PMR 5 - neuromuscular disorders Flashcards
Which of the following motor neuron diseases typically causes both upper and lower motor neuron signs?
a. Spinal muscle atrophy lI
b. Primary lateral sclerosis (PLS)
c. Amyotrophic lateral sclerosis (ALS)
d. Poliomyelitis
C) Weakness may be due to upper or lower motor neuron loss. Upper motor neuron (UMN) signs include weakness, spasticity, hyperreflexia, and upgoing plantar response.
Lower motor neuron (LMN) signs include weakness, atrophy, flaccidity, hyporeflexia, and fasciculations. ALS patients with UMN pathology will often have a loss of dexterity or feeling of stiffness in their limbs. Spasticity may further exacerbate weakness and loss of function. This is due to the involvement of the vestibulospinal and reticulospinal tracts. LMN symptoms in the ALS population include ( muscle weakness, with some muscle fasciculations, atrophy, and muscle cramping.
Cramping of abdominal or other trunk muscles should prompt a clinician to strongly consider ALS as a possible diagnosis.
Primary lateral sclerosis (PLS is classified as an UMN lesion. Spinal muscle atrophy II (SMA II) and poliomyelitis are classified as LMN lesions.
A 60-year-old man without any significant past medical history presents to vour outpatient office with asymmetric atrophy, weakness, and fasciculations.
He also complains of some difficulty swallowing his meals and complains of a strained and strangled quality in his speech. He describes normal bowel and bladder function. Which of the following is most likely his diagnosis?
a. Amyotrophic lateral sclerosis (ALS)
b. Spinal muscle atrophy III
c. Primary lateral sclerosis (PLS)
d. Poliomvelitis
A) ALS most commonly affects people in the age group of 40 to 60 years, and the mean age of onset is around 60 years. Onset is > usually insidious and painless. Asymmetric weakness is the most common presentation.
Dysphagia (oral, pharyngeal), dysarthria, drooling, and aspiration can occur and are signs and symptoms representing bulbar muscular weakness. Also, strained, strangled quality of speech, reduced rate, and low pitch indicate a spastic dysarthria. Bowel and bladder function is typically spared in ALS.
Which of the following is considered a poor prognostic factor in patients with amyotrophic lateral sclerosis (ALS)?
a. Predominance of upper motor neuron (UMN) findings at diagnosis
b. Long period from symptom onset to diagnosis
c. Younger age of onset
d. Pulmonary dysfunction early in the clinical course
D) Poor prognostic factors include predominance of lower motor neuron (LMN)
findings at diagnosis, short period from symptom onset to diagnosis, and older age at time of onset. Bulbar and pulmonary dysfunction early in the disease course is also a poor prognostic factor. Women typically present with bulbar symptoms, as compared with men. It is important to note that electrodiagnostic indicators of poor prognostic indicators include profuse spontaneous fibrillations, positive sharp waves, and low-amplitude compound muscle action potential.
What is the prognosis for patients with amyotrophic lateral sclerosis?
a. 50% die within 3 years
b. 100% die within 3 years
c. 50% live up to 7 years
d. 50% live up to 10 vears
A) The overall median 50% survival rate is
2.5 years after diagnosis. Survival rate is largely dependent on a patient’s decision to use mechanical ventilation and/or a feeding tube, but the 5-year survival rate is between 4% and 30%. Around 10% will live for 10 years.
Which of the following pharmacologic agents has been approved for patients with amyotrophic lateral sclerosis (ALS)
to slow the progression and improve survival?
a. Levodopa
b. Riluzole
c. Baclofen
d. Rebif
B) This is an antiglutamate agent that may be effective in slowing the disease, prolonging ventilator time, and may improve survival in patients with bulbar onset disease.
However, side effects can include asthenia, and the medication is expensive.
Nonpharmacological management of ALS includes rehabilitation, preventing contractures, submaximal exercise, tracheostomy, and respiratory therapy. Rebif is a beta interferon that is used to modify the course in multiple sclerosis patients. Baclofen is a derivative of gamma-aminobutyric acid (GABA) and is primarily used to treat spasticity. Levodopa is a medicine used to control symptoms of Parkinson’s disease.
Levodopa does not slow the disease process, but it improves muscle movement and delays severe disability.
Which of the following motor neuron diseases typically causes lower motor neuron signs and has the earliest disease onset?
a. Kugelberg-Welander disease
b. Primary lateral sclerosis (PLS)
c. Amyotrophic lateral sclerosis (ALS)
d. Werdnig-Hoffmann disease
D) Upper motor neuron signs include weakness, spasticity, hyperreflexia, and upgoing plantar response. Lower motor neuron signs include atrophy, flaccidity, hyporeflexia, and fasciculations. Werdnig-Hoffmann disease is also known as spinal muscular atrophy type I, or acute infantile-onset SMA. This severe disorder often results in death by the age of 2, and disease onset is 3 to 6 months. Recent studies have shown that there is a reported increase in longevity, most likely a result of better overall medical management. However, SMA type I carries the worst prognosis of all the forms of SMA, as patients may never be able to reach the childhood milestone of sitting independently.
The disease course is rapid and fatal secondary to respiratory failure. SMAll and III have later onset, and progression is generally slower. Kugelberg-Welander disease is also called SMA type III. All forms of spinal muscle atrophy are classified as lower motor diseases. PLS is an upper motor neuron disease, and ALS is classified as both upper and lower lesion motor disease.
A 16-year-old male presents to your office with concerns that recently he uses his hands and arms to “walk” up his own body from a squatting position.
He states that he was otherwise independent with standing and walking and has been doing well as a student and plans on attending college. Which lower motor neuron disease does he most likely have?
a. Spinal muscular atrophy (SMA) type I
b. SMA type lI
c. SMA type III
3d. Amyotrophic lateral sclerosis (ALS)
C) SMA type III (spinal muscular atrophy) is also known as Kugelberg-Welander disease.
The disease onset is later than that of type I and II, occurring between 2 and 15 years of age. Patients typically live a normal life expectancy. The progression is slower than the other two variants. Patients usually achieve independent standing/walking. This patient presents with Gower’s sign, which can be seen in SMA type III patients because proximal weakness is greater than distal weakness. These patients typically have normal intelligence. Complications in SMA III are less frequent, but may include hand tremor, tongue fasciculations (late onset), and areflexia. All forms of spinal muscle atrophy are classified as lower motor diseases, and ALS is classified as both upper and lower lesion motor disease.
A patient with spinal muscular atrophy
(SMA) type iI (chronic Werdnig-Hoffmann) can usually achieve which of the childhood milestone below?
a. Assisted sitting
b. Independent sitting
c. Independent standing
d. Independent ambulation
B) SMA type Il is also known as chronic Werdnig-Hoffmann. The disease onset is between 2 and 12 months, and death (often by respiratory failure) occurs by 10 years of age.
These patients can usually achieve.
milestones including independent sitting.
They may be able to stand or walk with an assistive device. Answer choice D is therefore incorrect and refers to someone with SMA type III. SMA type I patients never attain the ability to sit independently, and this severe disorder usually results in death by the age of 2.
Which of the following motor neuron diseases has the best prognosis?
a. Kugelberg-Welander disease
b. Chronic Werdnig-Hoffmann
c. Werdnig-Hoffmann disease
d. Both B and C, as their clinical course is similar
A) Spinal muscular atrophy (SMA) type lis also known as Werdnig-Hoffmann disease.
Death usually occurs by 2 to 3 years of age.
The progression is rapid and fatal. Patients with SMA type II, known as chronic Werdnig-Hoffmann, usually die by about 10 years of age. Again, the progression is fatal. Patients with SMA type IlI, known as Kugelberg-Welander disease, have a normal life expectancy with a slow progression.
Which of the following pharmacologic agents is a first-line treatment for spasticity in patients with amyotrophic lateral sclerosis (ALS)?
a. Tizanidine
b. Dantrolene
c. Benzodiazepine
d. Baclofen
D) Baclofen is a GABA analogue used to facilitate motor neuron inhibition at spinal levels and is the first-line treatment. Dosing can be started at 5 to 10 mg two to three times per day. It can be titrated up to 20 mg four times per day. Potential side effects include weakness, fatigue, and sedation. Patients must be informed that abrupt discontinuation of baclofen may cause withdrawal seizures. Tizanidine is an alpha-2 agonist.
Benzodiazepine can be helpful, but can cause respiratory depression and somnolence.
Dantrolene blocks calcium release in the sarcoplasmic reticulum and is ineffective at reducing muscle tone, but can cause generalized muscle weakness.
Which of the following is the most common presenting form of motor neuron disease in adults?
a. Amyotrophic lateral sclerosis (ALS)
b. Poliomyelitis
c. Spinal muscular atrophy (SMA)
d. Primary lateral sclerosis (PLS)
A) ALS is also called Lou Gehrig’s disease, as it was named after the New York Yankees’ first baseman who passed away from this disorder. This is unfortunately still the most widely known motor neuron disease and is the most common presenting form. The incidence of ALS is approximately 1.6 to 2.4 cases per 100,000 population.
Which of the following is not included in the Halstead and Rossi (1987) criteria in defining postpolio syndrome?
a. History of previous diagnosis of polio
b. Stability for approximately 5 years
c. Recovery of function
d. No other medical problem to explain new symptoms of weakness/atrophy
B) The answer choice would be correct if it was stability for approximately 15 years.
Postpolio syndrome is a diagnosis based on exclusion. It has been well defined by the Halstead and Rossi criteria (1987): 1.
Confirmed history of poliomyelitis 2. Partial to fairly complete neurologic and functional recovery 3. A period of neurologic and functional stability of at least 15 years in duration 4. Onset of two or more of the following health problems since achieving a period of stability: unaccustomed fatigue, muscle and/or joint pain, new weakness in muscles previously affected and/or unaffected, functional loss, cold intolerance, new atrophy 5. No other medical diagnosis to explain these health issues.
Which virus has been implicated in the development of poliomyelitis?
a. Herpes virus
b. Papillovirus
c. Picornavirus
d. Poxvirus
C) Acute poliomyelitis is a disease that causes degeneration of the anterior horn cell, and is caused by the polio virus. The polio virus is a small RNA virus belonging to the enterovirus group of the picornavirus family.
Picornavirus orally enters the body and spreads via lymphoid system leading to orphaned muscle fibers and potential central nervous system involvement. All other answer choices are DNA viruses.
Of the following, which is a disorder of neuromuscular transmission due to an autoimmune response against acetylcholine receptors on the postsynaptic membrane?
a. Myasthenia gravis.
b. Lambert-Eaton myasthenic syndrome (LEMS)
c. Botulism
d. Amvotrophic lateral sclerosis (ALS)
A) Neuromuscular junction disorders can be classified into two categories: presynaptic or postsynaptic. LEMS and botulism are presynaptic disorders, and myasthenia gravis is a postsynaptic disorder. Myasthenia gravis is a disorder resulting in a decreased quantal response because of an autoimmune response against acetylcholine receptors on the postsynaptic membrane. LEMS is a disorder of neuromuscular transmission due to an autoimmune response against the active sites on the presynaptic membrane. Botulism is a disorder of neuromuscular transmission caused by Clostridium botulinum toxins blocking exocytosis of acetylcholine from the nerve terminal. ALS is a motor neuron disease that presents with both upper and lower motor neuron lesions that is caused by degeneration of the anterior horn cell
What is the etiology of Lambert-Eaton myasthenic syndrome (LEMS)?
a. Disorder of neuromuscular transmission caused by
Clostridium botulinum toxins blocking exocytosis of acetvicholine from the nerve terminal
b.Disorder of neuromuscular transmission caused by C. botulinum toxins blocking endocytosis of acetylcholine from the nerve terminal
c. Disorder resulting in a decreased quantal response because of an autoimmune response against acetylcholine receptors on the postsynaptic membrane
d. Disorder of neuromuscular transmission due to an autoimmune response against the active sites on the presynaptic membrane
D) This decreases calcium entry into the cell, causing a decreased release of acetylcholine into the synaptic cleft. There is a strong association with malignancy, such as small cell (oat cell) carcinoma of the lung.
Answer choice A describes botulism, and answer choice C describes myasthenia gravis.
A 45-year-old man presents to your office with complaints of fatigue and weakness that are exacerbated with rest and often improved with exercise. He denies vision disturbances bilaterally.
On physical exam, there is notable weakness in bilateral quadriceps. Which neuromuscular junction disorder may he have, and which location is affected?
a. Myasthenia gravis (MG);
postsynaptic
b. Lambert-Eaton myasthenic syndrome (LEMS); presynaptic 3 c. Myasthenia gravis; presynaptic
d. LEMS; postsynaptic
B) LEMS is a disorder of neuromuscular transmission due to an autoimmune response against the active sites on the presynaptic membrane. Patients complain of proximal fatigue and weakness that affects mainly the lower limbs, such as the quadriceps.
Symptoms are exacerbated with rest and improved with exercise. Rarely are there neck, facial, or bulbar muscle involvements. It is important to note that there is sparing of ocular muscles. There is also often an association with malignancy, most commonly oat cell carcinoma of the lung. Onset occurs more in males than in females (2:1) and in those older than 40 years. Unlike MG, LEMS patients may experience an increase in strength after a series of muscle contractions.
A 49-year-old woman presents to your clinic with complaints of fluctuating double vision and droopy eyelids. The patient is sent for a test where edrophonium chloride is injected, and there is brief improvement in her symptoms. Which of the following does she most likely have?
a. Myasthenia gravis (MG)
b. Lambert-Eaton myasthenic syndrome (LEMS)
c. Botulism
d. Amyotrophic lateral sclerosis (ALS)
A) Myasthenia gravis patients may complain of proximal muscle fatigue and weakness exacerbated with exercise, heat, or time of day (evening). It is important to note that there can be facial or bulbar symptoms, including ptosis, diplopia, dysphagia, or dysarthria. This patient presents with ocular myasthenia gravis. Ocular involvement is an extremely common initial presentation in MG patients. Drooping of eyelids and intermittent diplopia result from levator palpebrae (extraocular muscles) involvement, which is seen in 90% of MG cases. The test here describes the edrophonium (Tensilon) test.
An intravenous solution of edrophonium chloride is injected into a patient. A total of 10 mg of the cholinergic drug is prepared, and a
2-mg dose is injected. If there is no reaction in
30 seconds, the remaining 8 mg is administered. A brief improvement in muscle activity is regarded as a positive result.
Edrophonium chloride is also used to distinguish between myasthenia gravis and a cholinergic crisis. Because edrophonium chloride can precipitate respiratory depression, the test should not be performed unless an anticholinergic antidote, such as atropine, and respiratory resuscitation equipment are available.
A 49-year-old female presents to your clinic with complaints of fluctuating double vision 18. and droopy eyelids.
The patient is sent for a test where edrophonium chloride is injected, and there is brief improvement in her symptoms. Which of the following treatments is most appropriate?
a. Trivalent ABE antitoxin
b. Guanidine
c. Treat the malignancy
d. Mestinon
D) Mestinon (pyridostigmine) reversibly binds to and inactivates acetylcholinesterase, which is a cholinesterase inhibitor. This patient has myasthenia gravis (MG). Mestinon 60 to 120 mg orally every 3 to 8 hours can be used to treat MG. Other treatment options for MG include thymectomy, corticosteroids, immunosuppressive agents, and plasmapheresis. Answer choice C is correct in Lambert-Eaton myasthenic syndrome (LEMS) patients with malignancy. Initial treatment should be aimed at the neoplasm because weakness frequentlv improves with effective cancer therapy. No further LEMS treatment may be necessary in some patients.
Answer choice A is used for patients with botulism.
Symptoms of botulism present how soon after spore ingestion?
a. 1 hour
b. 2 to 4 hours
c. 1 day
d. 1 month
C) Symptoms such as blurred vision and diplopia can occur, along with nausea and vomiting, between 12 and 36 hours after consuming raw meat, fish, canned vegetables, or honey, making answer choice C the best answer. Bulbar symptoms are noted first and include ptosis, dysphagia, or dysarthria.
Gastrointestinal symptoms include nausea and vomiting, and then there may be widespread paralysis or flaccidity. If severe, there may be respiratory dysfunction. Lab work may reveal botulinum toxin in the stool or blood serum. Recovery occurs from collateral sprouting of nerves.
A 4-year-old boy is brought into your office because his mother has noticed that he has difficulty getting up from a seated position on the floor while playing with his toys. On physical exam, there is increased gastrocnemius calf circumference bilaterally. You think the child may have dystrophic myopathy.
The maneuver the child performs to assist him in standing is caused by:
a. Proximal leg weakness
b. Distal leg weakness
c. Proximal arm weakness
d. Distal arm weakness
A) The maneuver noted here is Gower’s sign, which is the inability to rise from a seated position on the floor. The patient has to use his hands and knees for assistance in a fourpoint stance. He will bridge the knees into extension and leans the upper extremity forward. This will substitute hip extension weakness (proximal leg weakness) and lean the upper extremities forward. The patient then moves the upper extremities up the thigh, and a full hip extension is achieved in an upright stance. The Gower’s sign indicates proximal muscle weakness. Also, this patient has pseudohypertrophy, which is seen in patients with either Duchenne or Becker’s muscular dystrophy. The enlargement in the calf is not due to increased muscle. It is a result of increased fat and connective tissue.
Which myopathy is characterized by a steadily progressive, X-linked muscular dystrophy that is characterized by absent dystrophin or less than 3% that is normal?
a. Becker’s muscular dystrophy (BMD)
b. Duchenne muscular dystrophy (DMD)
c. Limb-girdle muscular dystrophy (LGMD)
d. Facioscapulohumeral dystrophy (FSHD)
B) DMD is an X-linked disorder with an abnormality in the Xp21 gene locus. There is dystrophin deficiency that disrupts the membrane cytoskeleton and leads to membrane instability. Chronically, this will lead to fibrotic replacement of muscle and failure of regeneration, with muscle fiber death. Absent dystrophin or less than 3% of normal is diagnostic of DMD. Becker’s is also an X-linked disorder, but quantitative dystrophin analysis shows either 20% to 80% dystrophin levels. Answer choice C and D are not X-linked disorders.
Becker’s muscular dystrophy is characterized by:
a. Autosomal dominant condition
b. Autosomal recessive condition
c. X-linked, absent dystrophin
d. X-linked, reduced dystrophin
D) Becker’s muscular dystrophy has an X-linked inheritance, but has a slower clinical progression than Duchenne. They both have the same gene location (Xp21), but patients with Becker’s muscular dystrophy have 20% to 80 %, or even normal quantities, of dystrophin.
Which of the following myopathies is not associated with cardiac abnormalities?
a. Becker’s muscular dystrophy (BMD)
b. Duchenne muscular dystrophy (DMD)
c. Facioscapulohumeral dystrophy (FSHD)
d. Limb-girdle muscular dystrophy (LGMD)
C) The presence of cardiac abnormalities in FSHD is rare. It is important to note that cardiomyopathy is seen prominently in Becker’s and Duchenne muscular dystrophy.
These patients have abnormalities in the dystrophin protein that is also present in myocardium and Purkinie fibers. ECG abnormalities can be seen, such as Q waves in lateral leads, elevated ST segments, poor R wave progression, and resting tachycardia.
Cardiomyopathy is seen in nearly all patients older than 18 years in Duchenne.
Cardiomyopathy may also be seen in Limb-girdle muscular dystrophy.
Cognition may be impaired in which of the following myopathies?
a. Becker’s muscular dystrophy (BMD)
b. Duchenne muscular dystrophy (DMD)
c. Facioscapulohumeral dystrophy (FSHD)
d. Limb-girdle muscular dystrophy (LGMD)
B) The dystrophin isomer is present in the brain. Since there is an absence of this dystrophin protein in DMD, there have been lower intelligence quotients seen in affected children. Mean IQ scores have been 1 to 1.5 standard deviations below the normal population. An increase in autism and obsessive-compulsive disorder is also seen in DMD patients.
- A patient with Duchenne muscular dystrophy (DMD) is at risk to have which of the following as his or her disease progresses?
a. Sudden cardiac death
b. Contractures
c. Scoliosis
d. All of the above
D) Patients with DMD often have contractures by 13 years of age. The lower limb contractures have been strongly associated with wheelchair reliance.
Contractures may mostly affect ankle plantar flexors, knee flexors, hip flexors, iliotibial
L band, elbow flexors, and wrist flexors.
Scoliosis is prevalent in 33% to 100% in DMD patients and is strongly related to age. Fifty percentage will acquire scoliosis by the age of 12 to 15 years. There is no causal relationship between wheelchair use and scoliosis.
Cardiac abnormalities happen in DMD patients because of absence of dystrophin, which is also present in myocardium and Purkinje fibers. ECG abnormalities can be seen, such as Q waves in lateral leads, elevated ST segments, poor R wave progression, and resting tachycardia. Cardiomyopathy is seen in nearly all DMD patients older than 18 years.
An 18-year-old boy with an X-linked genetic disease has a mild functional disability, proximal muscles weakness, prominent calves, lordosis, and a waddling gait. He is not wheelchair bound. Which of the following conditions is he most likely to have?
a. Becker’s muscular dystrophy (BMD)
b. Duchenne muscular dystrophy (DMD)
c. Facioscapulohumeral dystrophy
(FSHD)
d. Limb-girdle muscular dystrophy (LGMD)
A) BMD is an X-linked muscular dystrophy with similar clinical pattern and gene locus to Duchenne, but with mild and slower progression. The patient in this question is 18 years old and is still able to ambulate.
Patients with Duchenne are usually wheelchair bound by the age of 10, if not treated with corticosteroids. Ambulation past 14 years of age should raise suspicion for a milder muscular dystrophy such as Becker’s or LGMD. LGMD is an autosomal recessive condition.
A 19-year-old female presents to your outpatient office with complaints of not being able to 27. smile or close her eyes.
She is not able to whistle and has some hearing difficulties. On physical exam, scapula winging is present. Which of the following is she most likely to have?
a. Becker’s muscular dystrophy (BMD)
b. Duchenne muscular dystrophy (DMD)
c. Facioscapulohumeral dystrophy (FSHD)
d. Limb-girdle muscular dystrophy (LGMD)
C) FSHD is a slowly progressive muscular dystrophic myopathy and involves the facial and shoulder girdle muscles. It is an autosomal dominant condition. Presentation is usually before the age of 20 and usually presents with weakness of the facial (orbicularis oculi and orbicularis oris) or shoulder girdle muscles (scapular and humeral distribution). Prominent scapula winging and biceps/triceps weakness may be present. There is relative sparing of the deltoid. Patients can be described as having an expressionless face and have difficulty with pursing lips, smiling, drinking through a straw, or whistling. There is also asymmetry of muscle involvement, which is unlike most other muscular dystrophies. Patients with FSHD also have sensorineural hearing deficits, and therefore all should have screening audiometry.
A teenager presents with an elbow flexion contracture and mild weakness that has affected 28. his ability to walk.
On physical exam, you also notice a neck extension contracture. Which of the following is the most likely to have?
a. Becker’s muscular dystrophy (BMD)
b. Emery-Dreifuss muscular dystrophy (EMD)
c. Facioscapulohumeral dystrophy (FSHD)
d. Limb-girdle muscular dystrophy
(LGMD)
B) This is an X-linked and slowl progressive myopathy caused by an abnormality of the protein emerin with a gene locus identified at Xq28. Patients usually present in the teenage years, and early el bow flexion contractures are the hallmark of the disease. Ankle equinus, rigid spine, and neck extension contractures can also be seen and are often more limiting than the weakness.
This disease is also associated with cardiac arrhythmias and almost always present by the age of 40. 24-hour Holter monitoring is required, as arrhythmias may not be obvious clinically or on routine ECG. EMD is managed by promotion of ambulation, prevention of deformities or their progression, monitoring cardiac status, and assessment of respiratory function.
All of the following are clinical features of facioscapulohumeral dystrophy except:
a. Inability to extend the wrist
b. Inability to whistle a
c. Deltoid muscle weakness
d. Protruding shoulder blades
C) Although the term facioscapulohumeral dystrophy (FSHD) would imply that all the muscles of the shoulder and upper arm are atrophic, the deltoid is surprisingly well preserved in many cases. This can be overlooked since scapular fixation prevents the deltoid from exerting its maximal effect. It is best to have the patient lying down with the examiner’s hand pressing down on the thorax backward to prevent the scapula from moving. When examined in this manner, the deltoid is normal in strength or only slightly weak. The inability to extend the wrist is a characteristic posture adopted by these patients. Answer choice B and D are cardinal clinical signs. Other clinical presentations may include lordosis and pelvic girdle weakness, deafness, and fundal changes.
Some patients may benefit from surgery that fixes the scapula to facilitate abduction of the arms.
In central core disease, all of the following may be present except:
a. Floppy infant
b. Congenital hip dislocation
c. Mitochondria present on muscle biopsy
d. Association with malignant hyperthermia
C) Central core disease is an autosomal dominant congenital myopathy. Onset is shortly after birth, and the infant is noted to be floppy and attains milestones slowly.
Congenital hip dislocation is often noted, and as the child ages, he or she cannot run and jump like their peers. Weakness is more pronounced in the proximal muscles, and patients can show a Gower’s sign. It is important to note that there is an association with malignant hyperthermia when receiving general anesthesia. This is because central core disease’s gene locus is at 19q13.1, which is the same gene locus as the malignant hyperthermia gene. On light microscopy, the muscle cells have cores that lack mitochondria.
A judicious workup for carcinoma is recommended in adult patients with newly diagnosed:
a. Inclusion body myositis
b. Polymyositis
c. Steroid myopathy
d. Dermatomyositis
D) Dermatomyositis is an inflammatory myopathy that appears to have an association with occult carcinoma in adults. The true incidence may be as high as 10% to 20%. Because of this, it is important to search for carcinoma in adult patients, especially males 40 years of age and older. There is a higher correlation with dermatomyositis and carcinoma, than with poly myositis. Steroid myopathy is a toxic myopathy and is caused by long-standing administration of exogenous steroids.
The age of onset for idiopathic inflammatory myopathies is:
a. Bimodal
b. Early
c. Late
d. Not specific and can occur at any time
A) The three primary types of inflammatory myopathy are polymyositis, dermatomyositis, and inclusion body myositis (IBM). All are thought to involve immune-mediated processes, possibly triggered by environmental factors in genetically susceptible individuals. The age of onset for idiopathic inflammatory myopathies is bimodal. Peaks occur between 10 and 15 years of age in children and between 45 and 60 years of age in adults.
A patient presents to vour office with malaise, fever, weight loss, and proximal muscle weakness and tenderness. On physical examination, he is noted to have a heliotrope rash with periorbital edema. Which of the following does he most likely have?
a. Primary idiopathic polymyositis
b. Primary idiopathic dermatomyositis
c. Rheumatoid arthritis
d. Childhood dermatomyositis or polymyositis
B) Patients with primary idiopathic dermatomyositis typically present with proximal muscle weakness and a characteristic rash on the face (heliotrope rash). A rash may also be noted on the extensor surfaces of the knees, elbows, ankles, and the dorsum of the hands.
Which of the following inflammatory myopathies is not treated primarily with corticosteroids or other
immunosuppressive medications?
a. Childhood dermatomyositis
b. Adult dermatomyositis
c. Polymyositis
d. Inclusion body myositis (IBM)
D) IBM clinically presents with asymmetric, slowly progressive, painless weakness in proximal and distal muscles. It is associated with a polyneuropathy. It is not responsive to pharmacologic intervention, such as steroids and immunosuppressive agents. Treatment choices primarily involve appropriate rehabilitation interventions, which include provision of assistive devices.
Childhood dermatomyositis is treated with only corticosteroids and is effective in inducing a remission and preventing a recurrence. Also, treatment can be stopped over time. Adult dermatomyositis and polymyositis are treated with corticosteroids and supplemented by immunosuppressive medications. This is usually not discontinued.
Which of the following is an ergot derivative and stimulates D2 receptors in the treatment of Parkinson’s disease?
a. Pergolide
b. Bromocriptine
c. Ropinirole
d. Pramipexole
B) Medications used to treat Parkinson’s disease work by increasing dopamine action and/or decreasing the cholinergic effect. Bromocriptine is an ergot derivative that stimulates dopamine D2 receptors. Nonergot derivatives include ropinirole (Requip) and pramipexole (Mirapex).
Which of the following is not a sign/symptom of Parkinson’s disease?
a. Impaired vibration or position sense
b.Resting tremor
c. Slowing of movements
d. Tremor superimposed on muscular rigidity
A) Of the signs/symptoms of Parkinson’s disease, the ones that are most common are resting tremor, bradykinesia/hypokinesia, and
“cogwheel” rigidity. The resting tremor (sometimes referred to as pill rolling tremor) is 3 to 5 Hz and is the most common symptom, affecting about 65% of patients.
The tremor is suppressed by activity or sleep and worsened by fatigue or stress.
Bradykinesia is slowing of movements.
“Cogwheel rigidity” is tremor superimposed on muscular rigidity. Other symptoms include a shuffling gait, masked facies, and postural instability. Patients can have depression, dementia, and/or orthostatic hypotension.
The movement disorder that results from a decrease in dopamine input in the striatum and an increase in cholinergic input is:
a. Multiple sclerosis
b. Friedreich’s ataxia
c. Parkinson’s disease (PD)
d. Huntington’s disease
C) PD involves a pathologic degenerative process of the brainstem nuclei. This is especially true of dopaminergic cells of the substantia nigra. In addition, there is an excess of cholinergic neurons in the caudate nuclei. This causes an imbalance between cholinergic and dopaminergic input in the striatum and is responsible for the symptoms seen in PD.
A patient with advanced Parkinson’s disease comes to your clinic hoping to decrease his symptoms. He has tried antiparkinsonian drugs, but still has resting tremor, rigidity, and bradykinesia that interfere with his quality of life. What can you recommend that may help reduce his symptoms?
a. Subthalamic deep brain stimulation
b. Thalamotomy
c. Pallidotomy
d. There is nothing more you can offer
A) Subthalamic deep brain stimulation has been effective in reducing symptoms and has been shown to reduce the need for antiparkinsonian medications by at least half.
This is the most common surgical procedure used in Parkinson patients, although destructive surgery is another option.
U Thalamotomy is surgical destruction of cells in the thalamus and can alleviate tremor on the contralateral side. Pallidotomy is the permanent ablation of part of the globus pallidus. This can be used in alleviating dyskinesias, stiffness, and the inability to perform or restart certain tasks.
Parkinson’s disease can be effectively medically treated with all of the following except:
a. L-Dopa
b. Dopamine receptor agonist
c. Dopamine receptor antagonist
d. Anticholinergic agents
C) An example of a dopamine receptor antagonist is haloperidol. This medication is used in movement disorders such as Huntington’s disease, but has extrapyramidal and anticholinergic side effects. These side effects can mimic parkinsonian-like symptoms, making answer choice C incorrect.
All other answer choices can be effectively used in the treatment of Parkinson’s disease.
Other treatment options can also include amantadine and selective monoamine oxidase
B (MAO-B) inhibitors.
A common side effect of anti-Parkinson drugs (e.g., Sinemet, Requip) is:
a. Facial flushing
b. Erectile dysfunction
c. Tachycardia
d. Postural hypotension
D) Postural hypotension is a common problem in many anti-Parkinson drugs.
Postural hypotension can be treated with salt tablets or mineralocorticoids (such as fl udrocortisone or midodrine). Other side effects of these medications include confusion and hallucinations. L-dopa may cause nausea, abdominal cramping, and diarrhea.
Of the following, which does not cause drug-induced Parkinsonism?
a. Metoclopramide
b. Interferon beta-1a
c. Amiodarone
d. Haloperidol
B) Interferon beta-1a is used to treat the relapsing/remitting form of multiple sclerosis.
Answer choices A, C, and D all may cause drug-induced Parkinsonism.
A 32-year-old man presents to your office with hyperkinetic, involuntary, jerky movements. His sister states that she fears he also has dementia and that he is acting like her deceased father, uncle, and grandfather. They all passed away after having similar symptoms.
This patient most likely has:
a. Parkinson’s disease
b. Multiple sclerosis
c. Huntington’s disease
d. Friedreich’s ataxia
C) Huntington’s disease is a hereditary disease (autosomal dominant) that has been linked to a trinucleotide CAG repeat HD gene.
GABA has been found in decreased levels in the basal ganglia, as well as there is a decrease in substance P and enkephalins.
The onset is usually from the ages 30 to 50, although 10% have been found to have juvenile onset, which occurs before the age of
20. Unfortunately, many die from aspiration pneumonia about 15 to 20 years after the onset of symptoms. The classic symptoms are chorea or choreoathetosis, which are hyperkinetic, involuntary, jerky movements.
The other classic symptoms are dementia and personality disorder. A family history is usually noted.
Which of the following is false regarding multiple sclerosis (MS) and pregnancy?
a. Relapses decrease during pregnancy
b. Higher relapse rate in the first 3 months postpartum
c. Women should not worry about pregnancy worsening their disease process
d. Increased incidence of MS by over 50% among their offspring
D) The incidence of MS in the offspring of patients with MS is only slightly increased (3% for girls and 1% for boys). The net effect of pregnancy on the course of MS is neutral.
This is due to the fact that there is a decrease in relapse during pregnancy, but higher than normal relapse during the first 3 months postpartum. Therefore, women should not fear that pregnancy can worsen their MS.
Which of the following is true of multiple sclerosis (MS) and pregnancy?
a. Interferon beta is a safe treatment option during pregnancy
b. Glatiramer acetate is a safe treatment option during pregnancy
c. Breastfeeding increases relapse rate in the first 6 months postpartum
d. Restarting disease-modifying agents during breastfeeding is recommended
B) Interferon beta is FDA category C for pregnancy and is therefore stopped before a woman decides to try to have a child.
Interferon beta has been shown to increase the rate of miscarriage. The risk for relapse is lower overall during pregnancy, so the drug is discontinued before conceiving. Glatiramer acetate is FDA category B and may be a better option for those who want to continue medications during pregnancy. Breastfeeding is known to decrease relapse rate in the first few months postpartum, and it is recommended to restart medications when breastfeeding is stopped.
The etiology of which disease is thought to be an autoimmune response causing demyelination, axonal damage, and brain atrophy?
a. Parkinson’s disease
b. Huntington’s disease
c. Multiple sclerosis (MS)
d. Guillain-Barré syndrome
C) MS is considered an autoimmune disease. The disease affects the central nervous system most likely by causing demyelination, leading to plaque formation.
The plaque causes oligodendrocyte destruction, astrocyte proliferation, and glial scarring, making the propagation of action potential down a nerve impossible. Remission may occur during this disease process as remyelination occurs.
Which of the following is false regarding multiple sclerosis?
a. Affects males more frequently
than females
b. Affects Caucasians more frequently than African Americans
C. Increased incidence in higher socioeconomic class
d. There is no change in long-term relapses in pregnancy
A) Multiple sclerosis actually affects females more than males (2:1 female to male ratio). Answer choices B, C, and D are all true.
The net effect of pregnancy on the course of
MS is neutral. This is due to the fact that there is a decrease in relapse during pregnancy, but higher than normal relapse during the first 3 months postpartum. Therefore, women should not fear that pregnancy can worsen their MS.
Of the several patterns of multiple sclerosis, which is most common?
a. Secondary progressive
b. Progressive-relapsing
C. Relapsing-remitting
d. Primary progressive
C) There are six different subtypes of multiple sclerosis (MS). Eighty-five percentage of MS cases are the relapsing-remitting form of MS. This form is characterized by an acute exacerbation followed by a remission period. During the remission, patients can return to their baseline function or may have some form of disability after an exacerbation. The six subtypes of MS are as follows:
1. Relapsing-remitting
2. Secondary progressive
3. Benign
4. Progressive-relapsing
5. Primary progressive
6. Malignant
The following are all considered good prognostic factors in multiple sclerosis
(MS) except:
a. Age of onset greater than 35 vears
b. Optic neuritis at onset
c. Monosynaptic symptoms
d. Ataxia and tremor
D) Ataxia and tremor have a poorer prognosis for MS patients. All others choices are good prognostic factors. Optic neuritis is inflammation of the optic nerve. It may cause sudden, reduced vision in the affected eye and is considered a good prognostic factor when presenting at onset in MS patients.
The following are common symptoms in patients with multiple sclerosis (MS), except:
a. Bowel/bladder dysfunction
b. Decreased IQ
c. Pain
d. Fatigue
B) The classic symptoms of MS include bowel/bladder dysfunction, fatigue (which is central in nature), and pain. Other symptoms that patients may report are balance problems, weakness/paralysis, numbness/tingling, spasticity, cognitive problems, depression, emotional lability, and tremor. MS produces a wide variety of problems depending on the location of the lesion in the central nervous svstem.
However, IQ is not usually affected.
Of the following choices, which is not a major problem affecting activities of daily living (ADLs) reported by multiple sclerosis (MS) patients?
a. Sensory disturbance
b. Fatigue
c. Balance difficulties
d. Weakness
A) Fatigue is more problematic in patients in the afternoon and can be experienced in 77% of patients with MS. Energy conservation techniques can be used to treat fatigue, and medications such as methylphenidate and amantadine can also be used. Balance / difficulties and weakness can contribute to falls in this patient population.
Which of the following can be seen in patients with multiple sclerosis (MS)?
a. Pill rolling tremor
b. Lower motor neuron signs
c. Adson’s sign
d. Weakness and/or Lhermitte’s sign
D) Patients commonly present with upper motor neuron (UMN) signs. MS is an autoimmune disease of the central nervous system. UMN signs include hyperreflexia, Hoffmann’s and Babinski’s sign, and spasticity. Weakness and decreased sensation can also be noted. Lhermitte’s sign is a classic finding in MS. Patients complain of an electrical sensation that runs down the back and into the limbs (shoulders). It is elicited by bending the head forward (neck flexion); this is caused by involvement of the posterior columns. There is increased sensitivity of the myelin to stretch or traction.
A pill-rolling tremor is frequently seen in
Parkinson’s disease.
The pathognomonic test for multiple sclerosis (MS) includes:
a. Increased cerebrospinal fluid (CSF) protein, oligocional igG bands
b. Multifocal “bright” areas of hyperintensity on T2-weighted images
c. Both of the above
d. None of the above
D) Although both answer choices A and B may be seen in patients with MS, there is no pathognomonic test for MS. These tests are nonspecific and have to be interpreted with the entire clinical picture.
Corticosteroid use in multiple sclerosis
(MS) is considered:
a. Effective in long-term use
b. Most responsive in cerebellar and sensory symptoms
c. To speed recovery
d. To prevent further attacks
C) Corticosteroids (methylprednisolone)
are used in acute attacks in MS patients.
Corticosteroids have anti-inflammatory and antiedema properties. The dose that is given is 500 to 1,000 mg/day IV for 3 to 5 days and can be given with or without an oral taper.
Long-term use is not recommended, as hyperglycemia, hypertension, osteoporosis, and cataracts can occur with prolonged use.
Cerebellar and sensory symptoms are least responsive to corticosteroids. Steroids can hasten recovery, but do not prevent further attacks, or alter progression.
Which first-line treatment choice can reduce relapse in multiple sclerosis (MS) patients?
a. Corticosteroids
b. Immunomodulator agents
c. Intravenous immunoglobulin
d. Immunosuppressive agents
B) Immunomodulator agents include interferon beta-1a (Avonex and Rebif), interferon beta-1b (Betaseron), and glatiramer acetate (Copaxone). These have been shown to reduce relapse rate in MS patients.
Immunosuppressive agents include cyclosporin, azathioprine, methotrexate, and mitoxantrone and can reduce relapse rate, but have a greater side-effect profile and are therefore used as a second-line agent.
Intravenous immunoglobulin is also an immunosuppressive agent and is still being studied for use in this patient population.
Steroids can hasten recovery, but do not prevent further attacks, or alter progression.
A patient presents to the emergency department with ptosis, anhidrosis, and miosis on the left side of his face. He has difficulty walking and recently fell to his left side. On physical exam, there is decrease in pain and temperature sensation on the left side of his face and on the right side of his body. There is no muscle weakness. He most likely has:
a. Lateral medullary syndrome
b. Medial medullary syndrome
c. Benedikt syndrome
d. Weber syndrome
A) Lateral medullary syndrome, also known as Wallenberg syndrome, PICA syndrome, or vertebral artery syndrome, has a presentation that is very memorable. Signs and symptoms include the following: *
*Ipsilateral side findings: Horner’s syndrome, decrease in pain and temperature sensation on ipsilateral face, cerebellar signs (ataxia) that characteristically make the patient fall toward the side of the lesion. * Contralateral findings: Decreased pain and temperature sensation on the contralateral side of the body. * Dysphagia, dysarthria, hoarseness, paralysis of vocal cord, vertigo, hiccups, nystagmus, and diplopia can be seen. There is no facial or motor weakness in this syndrome.
In lateral medullary (Wallenberg)
syndrome, all of the following can be seen except:
a. Decrease in pain and temperature sensation on the ipsilateral side of the face
b. Decreased pain and temperature on the contralateral body
c. Decrease muscle strength on the contralateral side
d. Ptosis, anhidrosis, and miosis on the ipsilateral side
C) Lateral medullary syndrome, also known as Wallenberg syndrome, PICA syndrome, or vertebral artery syndrome, has a presentation that is very memorable. Signs and symptoms include the following: * Ipsilateral side findings: Horner’s syndrome, decrease in pain and temperature sensation on ipsilateral face, cerebellar signs (ataxia) that characteristically make the patient fall toward the side of the lesion. * Contralateral side findings: Decreased pain and temperature sensation on the contralateral side of the body. * Dysphagia, dysarthria, hoarseness, paralysis of vocal cord, vertigo hiccups, nystagmus, and diplopia can be seen. There is no facial or motor weakness in this syndrome.
A patient presents to the emergency department with loss of muscle strength in his right upper and lower extremities.
He has loss of proprioception and position sense on his right side and has left side tongue deviation. What does he most likely have?
a. Lateral medullary syndrome
b. Medial medullary syndrome
C. Benedikt syndrome
d. Weber syndrome
B) Medial medullary syndrome is caused by an infarction of the medial medulla secondary to occlusion of penetrating branches of vertebral arteries or anterior spinal artery. This syndrome is rare and happens far less than lateral medullary syndrome (1-2:10). Signs and symptoms can include ipsilateral hypoglossal palsy, contralateral hemiparesis, and contralateral lemniscal sensory loss.
Medial medullary syndrome characteristically presents with the following signs and symptoms except:
a. Ipsilateral tongue deviation
b. Contralateral hemiparesis
c. Contralateral proprioception and position sense loss
d. Contralateral decreased pain and temperature
D) Medial medullary syndrome is caused b an infarction of the medial medulla secondary to occlusion of penetrating branches of vertebral arteries or anterior spinal artery. This syndrome is rare and happens far less than lateral medullary syndrome (1-2:10). Signs and symptoms can include ipsilateral hypoglossal palsy, contralateral hemiparesis, and contralateral lemniscal sensory loss.
Neuroplasticity is a concept that refers to all of the following except:
a. The potential ability of the central nervous system (CNS) to modify its structural and functional organization
b. Partial recovery is possible long after sustaining a brain injury
c. The brain remains capable of changing in response to experience and injury
d. Insult or injury to the CNS is permanent and functional ability cannot be altered with any type of intervention
D) Insult or injury to the CNS is permanent and functional ability cannot be altered with any type of intervention. Neuroplasticity refers to the dynamic nature of the brain and CNS and its ability to change in response to experience and injury.
Which of the following statements regarding constraint-induced movement therapy (CIMT) is true?
a. It requires constraint of the affected extremity
b. It is based on principles of repeated practice and intense activity
c. It utilizes a passive non-intensive approach
d. It aims to increase the use of the unaffected extremity
B) CIMT is an intervention directed at improving the function of the affected upper extremity after a brain injury. It involves intensive motor training of up to 6 hours daily and motor restriction (constraint) of the unaffected extremity. CIMT is based on research findings that the affected limb is negatively impacted by learned nonuse because of increased dependence on the intact limb.
Neural strategies of functional ‘ improvement after central nervous system injury include all of the following except:
a. Restoration
b. Redacting
c. Recruitment
d. Retraining
B) Restoration focuses on reengaging residual brain areas that are initially dysfunctional after an injury. Recruitment involves engaging new residual areas of the brain. Retraining involves training the residual brain to perform new functions. Redacting refers to editing or drafting a document for publication.
Benefits of partial body weight supported gait training include:
a. Addresses ambulation issues for patients who have sufficient strength and balance
b. Enhances development of compensatory gait strategies
c. Provides earlier weight-bearing to increase strength and increase spasticity
d. Allows for the simulation of task-specific walking movements
D) Partial body weight supported gait training allows the simulation of task-specific walking movements and enables therapists to assist patients in the components of gait rather than bearing body weight. Gait training is necessary for the restoration of self-ambulation after brain injury. The patient works at improving coordination of movement and gradually increasing muscle strength.
The lack of sufficient strength and balance to maintain an erect posture typically prevents gait training. Partial body weight support gait training is postulated to result in earlier weight-bearing, increased strength, and reduced spasticity. It helps to prevent development of compensatory strategies for ambulation that may develop while using a cane or walker and creates undesirable motor habits. It also reduces the demands of muscles.
Neuroplasticity is 63. not positively influenced by:
a. Environment and stimulation
b. Repetition of tasks
c. Motivation
d. Compensation
D) Environmental manipulation might influence both morphological change and the L functional outcome after a cortical injury.
Research studies revealed that animals reared or housed as adults in complex environments led to enhanced dendritic growth that was correlated with enhanced behavioral abilities.
Patient motivation is an important factor in the success of his or her rehabilitation program. An important component of the rehabilitation process is to assist the patient in avoiding development of negative compensatory strategies.
Side effects from all of the following medications should be considered in the differential diagnosis of Parkinson’s disease except:
a. Metoclopramide (Reglan)
b. Lithium
c. Haloperidol
d. Amantadine
D) All the above medications can cause
Parkinson-like features through their effects on the dopamine neurotransmitter except for amantadine, which is actually used in the treatment of Parkinson’s. It has mild anticholinergic activity and dopamine reuptake inhibiting properties.
Huntington’s disease is characterized by all the features listed below except:
a. Evidence of chorea and dementia/personalitv disorders
b. Trinucleotide repeat sequence of
CAG in the DNA
c. Markedly decreased amount of
GABA in the basal ganglia
d. Microscopically noted to have intracytoplasmic eosinophilic inclusions called Lewy bodies in damaged cells
D) All the above are features of
Huntington’s disease except for choice D, which is seen in Parkinson’s disease.
Which of the following features is considered a good prognosis indicator in patients with multiple sclerosis?
a. Age at onset greater than 35 years
b. Rapidly progressive onset
c. Sensory findings/optic neuritis at onset
d. Male sex
C) All of the above features portend a poor prognosis except for C, sensory findings/optic neuritis at onset. Other good prognostic indicators include a sudden onset with a long remission, retained ability to ambulate, and low current disability.
All of the following symptoms are seen in multiple sclerosis (MS) except:
a. Impairment of deep sensation, proprioception-
b.Scanning speech
c. Impaired convergence
d. Bowel and bladder incontinence
C) All the above are symptoms of MS except for choice C. Choice A is due to demyelination of the dorsal column tracts.
Choice B is seen in “Charcot’s triad” or advance stages of the disease where scanning speech, intention tremor, and nystagmus can manifest themselves.
Scanning speech is characterized as being explosive speech that is broken into syllables.
Bowel and bladder incontinence are symptoms seen due to demvelination of the spinal cord. Convergence is one of the optical features not seen in MS, whereas nystagmus, optic neuritis, diplopia, and internuclear ophthalmoplegia (a disorder of lateral conjugate gaze in which the affected eve has impaired adduction, causing diplopia) may be noted. However, convergence is generally intact.
Lhermitte’s sign is produced by:
а. Passive neck flexion causing electrical shock-like sensation radiating to the spine, shoulders, and other areas
b. Axial load placed by pressing downward force on top of the patient’s head causing
reproducible numbness to one or both limbs
c. Rotating head to side with neck extended with ipsilateral shoulder abducted at 45 degrees and elbow extended with patient inhaling and holding inspiration
d. None of the above
A) Lhermitte’s sign is commonly seen in multiple sclerosis (MS), but is not universally seen in all cases. This test assesses for increased sensitivity of the myelin to traction and is similar to an upper motor neuron sign.
Choice B refers to Spurling’s test, which is done to test for radiculopathies. Choice Cis Adson’s maneuver, which is done to assess for neurogenic thoracic outlet syndrome by causing scalene compression of the brachial plexus.
Although a multitude of tests can be done to help diagnose multiple sclerosis (MS), which of the following is not suggestive of this diagnosis?
a. Multifocal bright T2-weighted periventricular images
b. Increased latency seen in somatosensory evoked potentials (SSEP)
c. Increased cerebrospinal fluid (CSF) protein with oligoclonal bands
d. Decreased amplitudes of sensory nerve action potentials (SNAPs) and compound motor action
(potentials (CMAPs) in nerve conduction studies (NCSs)
D) All the following are suggestive findings of MS except for choice D. Often, clinical evidence alone is diagnostic of MS if there is an apparent history of repeated attacks and signs of more than two lesions.
However, in other cases, magnetic resonance imaging (MRI) findings and spinal tap can help assist in the diagnosis. MRI has the greatest sensitivity, as lesions of white matter are seen in approximately 85% of the cases involving the optic nerves, spinal cord, and brain. Enhancement with gadolinium is a sensitive indicator of disease activity. CSF tap will show increased protein because of the lost myelin and increased amount of IgG.
SSEPs are frequently delayed, since MS is a central process and generally involves the cord. Since NCSs test peripheral nerves, they are generally not affected.
Which of the following is 70. not used in the treatment of multiple sclerosis (MS)?
a. Corticosteroids
b. Interferon beta
c. Glatiramer acetate
d. Rituximab
D) All the above are used in the treatment of MS except for choice D, which is used in Devic’s disease or neuromyelitis optica.
Corticosteroids are often used in acute attacks and are used in high doses and tapered down. Interferon beta and glatiramer acetate are immunomodulating agents that help in decreasing the progression of the disease. Rituximab is a monoclonal antibiotic against B-cell CD20 antigen used in hematological diseases (lymphomas) and many autoimmune diseases, but not used in MS.
What is Uhthoffs phenomenon?
a. Passive neck flexion causing shock-like symptoms radiating to the spine and shoulders /
b. Inability to adduct the left eye on right lateral gaze and inability to adduct the right eye on left lateral gaze with intact convergence
c. Worsening of neurological symptoms including visual problems seen with increased body temperature
d. None of the above
C) Choice A refers to Lhermitte’s sign, and choice B refers to internuclear ophthalmoplegia (INO) all seen in multiple sclerosis. Choice C describes Uhthoff’s phenomenon. This effect is thought to reflect areas of impaired but still functioning myelin that breaks down in transmitting electrical impulses when surrounding fluid is heated.
What are the typical features of amyotrophic lateral sclerosis (ALS)
associated with lower motor neuron disease?
a. Babinski sign
b. Increased tone
c. Spasticity
d. Fasciculations
D) Increased tone, Babinski sign, and spasticity are all signs of an upper motor neuron (UMN) syndrome, whereas fasciculations are a sign of lower motor neuron syndrome. ALS is a disease with progressive injury and death to both pyramidal (upper motor) neurons and anterior horn (lower motor) neurons.
Which of the following is not a characteristic of myasthenic syndrome or Lambert-Eaton syndrome (LES)?
a. Paraneoplastic syndrome associated with small cell lung cancer
b. Involves antibodies to presynaptic Ca+ ion channels
c. Proximal muscle weakness that improves with further exertion
d. Extraocular weakness
D) All the following are typical features of
LES except for D. Weakness involving the eye muscles is very uncommon in LES.
Which of the Parkinson plus syndromes is characterized by onset of 40 to 60 years of age, involving weakness in lower extremities (LE) with possible intention tremor of LE, and ataxia plus dysarthria?
a. Multiple system atrophy (Shy-Drager syndrome)
b. Supranuclear palsy
c. Olivopontocerebellar atrophy
d. Striatonigral degeneration
C) All the symptoms involved suggests cerebellar impairment, including the ataxia and dysarthria. Multiple system atrophy has more autonomic involvement, including orthostatic hypotension, thermoregulatory dysfunction, and impotence. Choice D is harder to differentiate from primary
Parkinson’s, but is noted to have dystonia, with general absence of tremor. Choice A is associated with Parkinson’s along with vertical gaze palsy.
Which of the following medications used for spasticity has the least amount of sedation and cognitive impairment?
a. Diazepam
b. Dantrolene sodium
c. Baclofen
d. Clonidine
B) Although seldom used for spasticity, dantrolene has the least amount of sedation and cognitive impairment of all the antispasticity medications. This is primarily because its mechanism of action takes place peripherally in the sarcoplasmic reticulum, decreasing calcium release. It is an agent that is considered in the treatment of spasticity for patients suffering from brain injury.
A1.2-year-old boy comes into your office complaining of progressive hearing deficits. He is having difficulty whistling a tune he is listening to on headphones on his good ear. On examination, he is noted to have some hyperlordosis of his spine. Which condition do you suspect the boy may be suffering from?
a. Duchenne muscular dystrophy
(DMDY
b. Emery-Dreifuss muscular dystrophy (EMD)
C. Facioscapulohumeral dystrophy
(FSHD)
d. Limb-girdle syndromes
C) Features in this vignette are suggestive of the diagnosis of facioscapulohumeral dystrophy. Initial weakness affects facial muscles, especially the orbicularis oculi. zygomaticus, and the orbicularis oris. Clinical features include facial weakness, scapular winging, shoulder girdle weakness, and lordosis due to pelvic girdle weakness.
Choice A is a syndrome that includes hypotonia, early contractures, equinovarus deformities, knee flexion contractures, and delayed motor milestones. A child of 12 would already have symptoms. Choice Bis a dystrophy marked by the presence of early contractures of the elbow flexors (limited extension) and heel cord tightness with ankle dorsifl exion weakness (toewalking may be present). Choice D refers to syndromes that are similar to Becker’s or Duchenne muscular dystrophy but predominantly affect shoulder and girdle muscles, causing weakness.
Arnold-Chiari malformation type II (the downward displacement of the medulla and brainstem through the foramen magnum causing kinking of the brainstem) is associated with which condition?
a. Spina bifida occulta
b. Meningocele
c. Myelomeningocele
d. All the above
C) In spina bifida, a congenital malformation of the vertebral columns and spinal cord exists. Only in myelomeningocele, where the protruding sac contains meninges, spinal cord, and spinal fluid, is there an associated finding of Arnold-Chiari malformation, which presents in approximately 80% to 90% of patients.
Which of the following is not true regarding spina bifida?
a. Complicated by hydrocephalus in 90% of cases
b. Of those with Arnold-Chiari malformation. more than 80% of children will require ventriculoperitone al shunting
C. Three-fold increase in the incidence of patients suffering from lower IQ than the normal population
d. Most common cause of death is cardiovascular complications
D) All of the above statements are correct except for D. The number one cause of death in spina bifida is central respiratory dysfunction.
Which option describes the pulmonary dysfunction seen in patients suffering from Duchenne muscular dystrophy
(DMD)?
a. Decreased lung compliance and increased atelectasis secondary to loss of surfactant
b. Restrictive lung disease due to weakness of the diaphragm, chest, and abdominal walls
C.Hyperventilation with signs of respiratory alkalosis due to hyperreactive diaphragm
d. Impaired innervation of the phrenic nerve
B) In DMD, restrictive pulmonary disease is manifested by exertion and fatigue. This causes hypoventilation with elevation of CO2 levels, which can result in daytime somnolence and headache. Noninvasive devices are the preferred form of pulmonary management.
Which of the following statements regarding Duchenne muscular dystrophy is true?
a. Usually diagnosed by age 5
b. X-linked recessive condition
c. Patients generally lose the ability to ambulate at 8 to 12 years of age
d. All of the above
D) All of the listed statements above are true regarding Duchenne muscular dystrophy.
A patient seen in the traumatic brain injury (TBI) unit is noted to have a constricted pupil on the left side that is nonresponsive to light. Also he is noted to not appreciate pinprick sensation on the left side of his face and right side of his body. What condition does this patient suffer from?
a. Benedict syndrome
b. Lateral medullary syndrome
c. Weber syndrome
d. Millard-Gubler syndrome
B) This vignette is classical presentation for Wallenberg syndrome, otherwise noted as lateral medullary syndrome. Usually due to occlusion of the vertebral artery or posterior inferior cerebellar artery (PICA), this syndrome causes ipsilateral Horner’s syndrome, decrease in pain and temperature of face, and cerebellar signs of ataxia (ipsilateral) with decrease in pain and temperature on contralateral side of body.
A patient is noted to have ptosis of his right eyelid. When the eyes are opened, his pupil is noted to be dilated and faced downward and out. He is also noted to have weakness of his left side with signs of ataxia. He is likely to be suffering from?
a. Weber syndrome
b. Millard-Gubler syndrome
c. Wallenberg syndrome
d. Medial medullary syndrome
A) Weber syndrome is due to obstruction of the paramedian branches of the posterior cerebral artery. It causes ipsilateral cranial nerve three paralysis (hence the ptosis, and dilated, downward, and out pupil) and contralateral hemiplegia. Millard-Gubler syndrome is caused by lesions to the basilar artery and results in ipsilateral cranial nerve (CN) VI and CN VII palsies with contralateral hemiplegia (lateral rectus and facial muscles).
Medial medullary syndrome is caused by medial medulla infarction usually by atherosclerosis to the branches of the vertebral arteries or anterior spinal artery. It results in CN XII palsy (with tongue deviated toward side of lesion) and contralateral weakness and sensory loss.
A patient seen in the stroke recreational unit is told to draw a clock. After examining his illustration, you note that all the numbers of the clock are written and squeezed to the right side. Where do you suspect his lesion?
a. Left middle cerebral artery (MCA)
b. Right MCA
c. Left anterior cerebral artery (ACA)
d. Right ACA
B) This question describes findings of classical left-sided neglect. This feature is commonly seen in a right MCA lesion (non-dominant parietal lobe). With a lesion in the right MCA, the patient may present with intact speech but hemiparesis with focal weakness more on the upper extremity than lower extremity. There may be signs of impulsiveness and deficits in spatial perception as well as constructional apraxia.
A lesion in the left MCA would involve the patient’s speech and right-sided hemiparesis.
Which of the following is considered to be a lacunar syndrome?
a. Pure motor hemiplegia
b. Pure sensory stroke
c. Clumsy hand syndrome
d. All of the above
D) All of the above are considered lacunar syndromes, along with sensorimotor stroke, ataxia, and leg paralysis. Lacunar strokes comprise 20% of all strokes and are seen often in the putamen, pons, thalamus, internal capsule, and caudate. They are due to small occlusive arteriolar disease and are often associated with hypertension.
Locked-in syndrome (tetraparesis in a completely conscious patient with only the ability to move eyes vertically and blink) is suggestive of an occlusion in which artery(ies)?
a. Vertebral artery
b. Posterior inferior cerebellar artery
c. Posterior cerebral artery
d. Bilateral basilar arteries
D) Locked-in syndrome is caused by lesion to the ventral pons with an intact reticular activating system. This can be seen with bilateral basilar artery lesions. Choices A and B are often seen in Wallenberg syndrome, whereas choice C is seen in Benedikt or Weber syndrome.
In the Miller Fischer variant (MFV) of
Guillain-Barré syndrome (GBS), what are the classical findings?
a. Ophthalmoplegia, ataxia, and areflexia
b. Dysrhythmias, impaired diaphoresis, photophobia
c. Dysphagia, nausea, diarrhea
d. All of the above
A) The classic findings in the MFV of GBS are ophthalm oplegia, ataxia, and areflexia.
MFV represents only 5% of GBS cases and presents in descending fashion as opposed to the conventional ascending paralysis seen in conventional GBS forms. Thus, the eye is usually affected first. Gait and trunk muscles are often affected with general sparing of the limb muscles. The other choices B and C are seen in another variant of GBS, acute pan-autonomic neuropathy (which is the most rare form and quite fatal).
Which of the following complications listed below is the most common risk factor cerebral palsy (CP)?
a. TORCH congenital infections
b. History of maternal seizures
c. Maternal bleeding
d. Premature birth Cerebral palsy
(CP) is associated with non-progressive lesions in the immature brain
D) Prematurity is the most common antecedent of CP. This is due to immaturity, fragile brain vasculature, and the physical stresses of immaturity, which predispose to compromised blood flow. Infants born between 32 and 42 weeks gestation with a low birth weight (below the 10th percentile) had four to six times higher risk of CP.
One of the more common pathognomonic lesions seen in CP is:
a. Hydrocephalus
b. Periventricular leukomalacia (PVL)
c. Arnold-Chiari malformation
d. Central pontine myelinolvsis
B) PVL is highly predictive of cerebral palsy. It is seen in hemorrhagic infarction and is due to hemorrhagic lesions adjacent to the lateral ventricle. As this bleeding resolves, symmetric necrosis of the white matter bordering the external angle of the lateral ventricles can develop. Choice C is often seen in syringomyelia, and choice D is seen after rapid treatment of hypernatremia.
C) Friedreich’s ataxia is a type of spinocerebellar degeneration disease. It has an autosomal recessive genetic
predisposition. All the features listed above are associated with cerebellar injury. GBS is generally preceded by a viral etiology and then develops a spontaneous ascending paralysis that usually resolves without any of the cerebellar symptoms. In SMA, there is generalized proximal muscle weakness and wasting of upper and lower extremities, with signs of upper and lower motor neurons (degeneration of spinal cord and anterior horn cells).
In myasthenia gravis (MG), early monitoring of which of the following can help 90. prognosticate?
a. Exertion related fatigue
b. Spirometry
c. Response to edrophonium
d. Onset of diplopia
B) It is vital to do pulmonary function tests (PFTs) in patients diagnosed with MG. The forced vital capacity is probably the most important PFT, as it correlates to the function of the pulmonary muscles, including the diaphragm. Severe myasthenia may cause respiratory failure due to exhaustion of the respiratory muscles. Choice C is one of the tests done to diagnose MS. In the Tensilon test, edrophonium orneostigmine is administered (acetylcholinesterase inhibitors), which temporarily relieves symptoms of MG. Choice A and D are common symptoms of MG and provide little prognostic value.
Which type of aphasia would you expect to see in a patient who is noted to have fluent speech, with signs of comprehension, but unable to repeat?
a. Anomic aphasia
b. Transcortical sensory aphasia
c. Conduction aphasia
d. Transcortical motor aphasia
C) In conduction aphasia, there is a normal rate of speech, preserved comprehension, but impaired repetition. The lesion is noted to be in the arcuate fasciculus, a band of white matter that joins the Broca’s and Wernicke’s areas. Choice A describes patients who have fluent speech, good comprehension, but signs of difficulty finding words, along with alexia and agraphia. Choice B describes patients with fluent speech, without comprehension but preserved repetition. Choice D describes patients with nonfluent speech but good comprehension and preserved repetition.
Which of the following is a postsynaptic neuromuscular junction disorder?
a. Myasthenia gravis
b. Botulism
C. Lambert-Eaton mvasthenic syndrome
d. None of the above
A) Myasthenia gravis is a postsynaptic disorder. The other disorders are presynaptic.
In myasthenia gravis, there is an autoimmune response against:
a. Calcium channels
b. Acetylcholine receptors
c. Sodium channels
d. Sodium potassium pump
B) There is an autoimmune response to acetylcholine receptors in myasthenia gravis.
Botulism is caused by:
a. Clostridium botulinum toxin
b. Clostridium botulinum colonies
c. Staphylococcus aureus
d. Campylobacter jejuni
A) Botulism is caused by Clostridium botulinum toxin. The toxin blocks release of acetylcholine.
Botulism in an infant is associated with ingestion of:
a. Mayonnaise
b. Pasta
c. Honey
d. Strawberries
C) Infants should never be given honey.
Honey ingestion can lead to hypotonia (“floppy baby”) syndrome in an infant because of botulinum toxins in the honey.
Which of the following is associated with small cell (oat cell) carcinoma of the lung?
a. Lambert-Eaton myasthenic syndrome
b. Botulism
c. Myasthenia gravis
d. None of the above
A) Lambert-Eaton myasthenic syndrome is associated with small cell lung tumor.
Myasthenia gravis is associated with thymic tumor. Botulism is associated with ingestion of contaminated raw meat, canned vegetables, honey, or fish.
What is a requirement for the diagnosis of botulism?
a. Muscle biopsy
b. Botulinum toxin found in stool or blood
c. Chest x-ray
d. All of the above
B) The toxin is usually found in stool or blood. Myasthenia gravis and Lambert-Eaton myasthenic syndrome would require a muscle biopsy.
Edrophonium or (Tension) test is used to help diagnose:
a. Myasthenia gravis
b. Botulism
c. Lambert-Eaton myasthenic syndrome
d. None of the above
A) The above mentioned test will show improvement in myasthenia gravis
Edrophonium is a reversible acetylcholine sterase inhibitor.
Becker’s muscular dystrophy may present with:
a. Weakness in the first few days of life
b. Calf pseudohypertrophy
c. Rapid progression to death by age four
d. Costochondritis
B) Becker’s muscular dystrophy is an X-linked muscular dystrophy that has a slower progression and milder symptoms than
Duchenne muscular dystrophy. Calf pseudohypertrophy can be seen in both Duchenne and Becker’s muscular dystrophy and reflects destruction of the gastrocnemius muscle tissue by connective and fat tissue.
Amyotrophic lateral sclerosis (ALS) is a lesion of:
a. Upper motor neurons
b. Lower motor neurons
c. Upper and lower motor neuron
d. None of the above
C) In ALS, there is weakness and muscle atrophy caused by degeneration of upper and lower motor neurons.
Lower motor neuron (LMN) signs include all of the following except:
a. Spasticity
b. Atrophy
c. Hyporeflexia
d. Fasciculations
A) LMN lesions can present with flaccidity, atrophy, and fasciculations. Spasticity is a sign of an upper motor neuron lesion.
In a patient with multiple sclerosis
(MS), pregnancy usually results in:
a. Death
b. Symptom relapse
c. Complete recovery
d. Decreased relapses
D) Pregnancy in MS decreases relapses.
However, relapses may increase after the delivery.
Lhermitte’s sign is classically seen, but is not pathognomonic, for this disease:
a. Multiple sclerosis (MS)
b. Amyotrophic lateral sclerosis {
(ALS)
c. Duchenne muscular dystrophy
d. Poliomyelitis
A) Lhermitte’s sign is most commonly seen in MS. The patient may experience an electric shock-like sensation radiating to the spine and extremities when the neck is flexed.
This is thought to be due to increased myelin sensitivity to traction.
Fatigue in a patient with multiple sclerosis (MS) will increase with:
a. Heating
b. Cooling
c. Wetness
d. Dryness
A) Heat can worsen symptoms in patients with MS. They should be encouraged to use air conditioning. If pool therapy is used, the water should be below 84 °F (29°C). When exercising, these patients must avoid raising their body core temperature.
Children with congenital muscular dystrophy (CMD) are at an increased risk for developing:
a. Hip dislocations
b. Scoliosis
c. Hydrocephalus
d. All of the above
D) All of the above are associated features of CMD
Patients with facioscapulohumeral dystrophy (FSHD) may exhibit which of the following signs on physical examination?
a. Inability to whistle
b. Scapular winging
c. Shoulder girdle weakness
d. All of the above
D) This type of dystrophy primarily affects the face and shoulder girdle muscles.
A baby with spinal muscular atrophy
(SMA) type I (Werdnig-Hoffmann disease) may present with:
a. Weak cry
b. Dysphagia
c. Weak suck
d. All of the above
D) SMA is an autosomal recessive disorder of infancy that presents within the first 2 months of life with hypotonia and symmetric weakness of the lower extremities more than the upper extremities. This is due to degeneration of the anterior horn cell of the spinal cord and brainstem. All of the above are presenting symptoms of SMA type I, which is the most severe. Death usually occurs by age 3.
Which of the following is 108. not a symptom of Friedreich’s ataxia?
a. Absent deep tendon reflexes (DTRs)
b. Scoliosis
c. Seizures
d. Nystagmus
C) Friedreich’s ataxia is a type of spinal cerebellar degeneration syndrome that usually starts with gait ataxia and progresses to the rest of the body from the lower extremities upward. Symptoms may include weakness and muscle atrophy, nystagmus, dysarthria, fatigue, scoliosis, absent DTRs, and gradual loss of proprioception and vibratory sense.
What is the leading cause of mortality in children with neuromuscular diseases?
a. Neurologic complications
b. Renal complications
c. Pulmonary complications
d. Cardiac complications
C) Pulmonary complications are the number one cause of mortality. This is due to respiratory muscle weakness and fatigue along with impaired central control of respiration.
Duchenne muscular dystrophy (DMD)
is a disorder of:
a. Dystrophin
b. Axon
c. Myelin
d. Schwann cells
A) Patients with DMD have an absence of dystrophin, which leads to progressive muscle weakness and fatigability. Most DMD patients become wheelchair bound early in life. When dystrophin is partially functioning, the disorder is known as Becker’s muscular dystrophy (BMD).
Which of the following is true about children with neuromuscular scoliosis?
a. It is common in children with neuromuscular disorders who are able to walk
b. In Duchenne muscular dystrophy, scoliosis is unusual until the child becomes wheelchair bound
c. In cerebral palsy, scoliosis is usually seen in patients who are able to stand and walk
d. None of the above
- B) In neuromuscular disorders, scoliosis is uncommon in children who are able to stand and walk. Prevention of scoliosis is
(
usually accomplished by early bracing.
Surgical intervention is indicated prior to a patient’s vital capacity falling below 35% and prior to a spinal curvature of 35 degrees.
Which of the following disorders gives a patient an “inverted champagne bottle” or “stork leg” appearance?
a. Duchenne muscular dystrophy
(DMDIE
b. Charcot-Marie-Tooth (CMT)
c. Myasthenia gravis
d. Spinal muscular atrophy
B) This is usually present in patients with
CMT type lI because of muscle wasting of the anterior leg compartment and the calf.
Which of the following is the overall leading cause of cerebral palsy (CP)?
a. Prematurity
b. Iodine deficiency
c. Child abuse
d. Tetralogy of Fallot
A) Cerebral blood flow may be compromised in premature babies because of fragile brain vasculature.
Which of the following disorders is the leading cause of childhood disability?
a. Muscular dystrophy
b. Cerebral palsy (CP)
c. Osgood-Schlatter disease
d. Charcot-Marie-Tooth
B) CP is the leading cause of childhood disability with 2 to 3 cases per 1,000 births.
What is the most common type of cerebral palsy (СР)?
a. Mixed type
b. Dyskinetic
c. Flaccid
d. Spastic
D) Spastic (pyramidal) CP comprises 75% of all CP cases.
Pompe’s disease presents with all of the following except:
a. Dermatomyositis
b. Respiratory insufficiency
c. Hypotonia
d. Cardiomegaly
A) Pompe’s disease is an acid maltase deficiency. The resultant accumulation of glycogen leads to irreversible damage of skeletal, respiratory, and cardiac muscle tissue resulting in permanent disability and death.
Which of the following can trigger
Guillain-Barré syndrome (GBS)?
a. Respiratory viral infection
b. Gastrointestinal viral infection
c. Vaccinations
d. All of the above
D) GBS is believed to be caused by Campylobacter jejuni or a viral attack on the myelin and Schwann cells. Initial symptoms will include weakness and tingling sensation in the legs and can progress to almost total paralysis.
Guillain-Barré syndrome (GBS) may be treated with all of the following except:
a. Rehabilitation
b. Plasmapheresis
c. Steroids
d. IV immunoglobulins (IVIgs)
C) Steroids have not proven to be an effective treatment for GBS. IVIg is usually started first owing to the ease of administration and safety profile.
Plasmapheresis hastens recovery when used in the first 4 weeks of symptom onset.
Which of the following disorders is exacerbated with rest?
a. Lambert-Eaton myasthenic syndrome (LEMS)
b. Botulism
c. Myasthenia gravis (MG)
d. None of the above
A) The symptoms of LEMS are the result of an insufficient release of neurotransmitter by nerve cells. Continued use of the muscles may lead to a buildup of the neurotransmitter to normal levels, so symptoms of LEMS can often be lessened or alleviated. Symptoms of myasthenia gravis do not improve with continued muscle use.
Parkinson’s disease is characterized by which of the following tremors?
a. Intention tremor
b. Resting tremor
c. Essential tremor
d. None of the above
B) Parkinson’s disease results from the death of dopamine-generating cells in the substantia nigra. The resting tremor, which occurs only at rest, is characteristic of Parkinson’s. Intention tremor occurs during voluntary movement, and essential tremor occurs during sustained muscle contraction.
Patients with this particular syndrome report a strong, sometimes irresistible urge to move their legs:
a. Restless leg syndrome (RLS)
b. Cerebral palsy (CP)
c. Amyotrophic lateral sclerosis (ALS)
d. Spinal muscular atrophy (SMA)
A) RLS sensations are sometimes compared to an itching or tickling in the muscles, which temporarily subside with movement of the affected extremities.
Which of the following is considered an inflammatory myopathy?
a. Cerebral palsy (CP)
b. Inclusion body myositis (IBM)
c. Meralgia paresthetica
d. Charcot-Marie-Tooth
B) The other choices are not myopathies and not inflammatory.
