Neurology clinical exam Flashcards
1
Q
Differentials for upper motor neurone weakness?
A
(HIDICOT) Ischemia - stroke, spinal cord infarct Haemorrhage - subarachnoid, intracerebral Traumatic brain injury Tumor - astrocytoma, meningioma, brain metastases, spinal cord neoplasia Infection - encephalitis, PML, brain abscess Demyelination - ADEM, multiple sclerosis Hereditary spastic paraplegia Idiopathic transverse myelitis CNS vasculitis Sarcoidosis Syringomyelia Prion disease
2
Q
Signs of upper motor neurone lesion
A
Reduced power Minimal muscle wasting, Spasticity - velocity dependent increase in tone - scissor gait Clonus - more than 3 beats Hyper reflexia Upgoing plantars
3
Q
Signs of lower motor neurone lesion
A
Reduced power Muscle wasting Reduced tone Fasiculations Hypo reflexia Downgoing plantars (normal)
4
Q
Signs of myopathy
A
Reduced power Muscle wasting Normal reflexes Normal tone Downgoing plantars (normal)
5
Q
Causes of lower motor neurone weakness affecting single myotome?
A
Likely due to spinal nerve root pathology - Spinal trauma, radiculopathy or tumor
6
Q
Causes of lower motor neurone weakness affecting single peripheral nerve distribution?
A
Likely due to focal peripheral nerve pathology - Trauma, nerve entrapment, focal ischemia, peripheral nerve tumor or sarcoidosis
7
Q
Causes of lower motor neurone weakness affecting multiple peripheral nerve distributions?
A
Due to a brachial plexus lesion or mononeuritis multiplex Brachial plexus lesion - Trauma, brachial neuritis, radiation injury, tumor Mononeuritis multiplex - Vasculitis Diabetes. infection , Malignancy, Amyloidosis, sarcoidosis
8
Q
Which vasculitides can cause mononeuritis multiplex?
A
Polyateritis nodosa, EGPA, GPA, cryoglobulinemia, SLE, rheumatoid arthritis, Sjrogrens syndrome, Scleroderma, Behcet’s disease.
9
Q
Which infections can cause mononeuritis multiplex?
A
HIV, hepatitis B and C, Leprosy, Lyme disease.
10
Q
Causes of generalised lower motor neurone weakness?
A
Suggests a polyneuropathy, neuromuscular pathology or myopathy Peripheral polyneuropathy - Endocrine/nutritional, Demyelination, Vasculitis, Infection, Paraneoplastic syndrome, Multifocal motor neuropathy with conduction block, Motor neurone disease, Charcot Marie tooth, Sarcoidosis, Drugs, toxins Myopathy -
11
Q
Causes of co-existant upper and lower motor neurone weakness
A
Quite rare - main differential would be 2 seperate pathologies, also consider amyotrophic lateral sclerosis (variant of motor neurone disease affecting UMN and LMN), Cervical myelopathy, Syringomyelia
12
Q
Causes of proximal muscle weakness
A
Tends to be a muscular pathology rather than neurological in cause. Differentials: Proximal myopathy!! Neuromuscular disorder Neurological disorder
13
Q
Signs of proximal myopathy
A
Proximal muscle wasting Symmetrical proximal weakness (shoulders/hips) Trendelenberg gait Positive trendelenberg sign Poor sit to stand
14
Q
Extra signs to look for in proximal myopathy that may point to cause?
A
Heliotrope rash and gottrons papules in dermatomyositis Surgical scars (ie in chest) for paraneoplastic syndrome
15
Q
What are the causes of proximal myopathy - the most likely differential for proximal muscle weakness?
A
Congenital: Muscular dystrophy - Duchenne’s, Beckers, Emery Dreyfuss, Limb girdle, Fascioscapulohumeral dystrophy Metabolic myopathies - glycogen and lipid storage disorders Acquired: Inflammatory myositis - polymyositis, dermatomyositis, inclusion body myositis Paraneoplastic Infection - HIV, infectious pyomyositis, trichinosis, cysticerosis, coxsackie virus, lyme disease. Endocrine - thyroid disease, Cushings, acromegaly, hypopituitarism, Metabolic - periodic paralysis Toxins - alcohol, steroids, statins, cocaine. Sarcoidosis
16
Q
Causes of distal muscle weakness?
A
Tend to be neurological in cause rather than a muscle problem. Unilateral - Radiculopathy (C8-T1), Bracial plexopathy, peripheral nerve lesion. Bilateral: Guillian barre syndrome Chronic inflammatory demyelinating polyneuropathy Multifocal motor neuropathy with conduction block Motor neurone disease Inclusion body myositis (hands and forearms) Myotonic dystrophy Congenital distal myopathies
17
Q
How does distal weakness present on exam?
A
wasting of the small muscles of the hand Foot drop Distal reduction in power Distal functional impairment - difficulty opening jars, turning a key, buttoning a shirt.
18
Q
What would you expect to find in exam for multiple sclerosis?
A
Optic neuritis Internuclear ophthalmoplegia Lhermitte’s sign Upper motor neurone weakness Dorsal column (vibration/proprioception) sensory loss Cerebellar involvement - ataxia, dysarthria, dysmetria, dydiadochokinesis, nystagmus
19
Q
What are the signs of optic neuritis (seen in MS?)
A
Reduced visual acuity, central visual loss, reduced colour perception, optic disc atrophy.
20
Q
What is internuclear ophthalmoplegia (seen in MS?)
A
Inability to adduct one eye, with nystagmus in the other eye.
21
Q
What is lhermitte’s sign?
A
Seen in MS - electric sensation down the spine and in the limbs on neck flexion
22
Q
What is chronic inflammatory demyelinating polyneuropathy?
A
Like the chronic form of Guillain Barre, need symptoms for at least 8 weeks, presumed autoimmune but antibody not identified, responds somewhat to prednisone, IVIG and plasmapheresis but not really reversible. EMG and nerve conduction consistent with demyelinating neuropathy.
23
Q
What examination findings would you expect in CIDP?
A
Symmetrical lower motor neurone weakness Distal > proximal (foot drop) Upper limb > lower limb Glove and stocking distribution of sensory loss
24
Q
What is myasthenia gravis?
A
Autoimmune condition with antibodies against the acetyl choline receptor. Causes fatiguability of muscles - particularly involving eye movement, eye lid opening and shoulder abduction. Improves with the cold (ice test). Treated with pyridostigmine. Often associated with a thymoma.
25
What examination findings would you expect in myasthenia gravis?
Skeletal muscle fatiguability: Simpson's test - ptosis on sustained upward gaze. Proximal muscle fatiguability - compare shoulder abduction power - exercise one side with 20 chicken wing movements - then compare power with other side. Bulbar fatiguability - development of nasal speech as paragraph is read Thymectomy scar in neck
26
What are some bedside tests, blood tests and imaging that you could order in myasthenia gravis?
Bedside - ice test Blood test - acetyl choline receptor antibodies, other antibodies (LEMs etc) Imaging - CT chest looking for thymoma
27
What are the Neurological examination findings in myotonic dystrophy?
Myopathic facies - temporalis wasting, mandibular wasting, frontal baldness Flaccid dysarthria - nasal speech, breathiness, monotony, impaired articulation. Warm up phenomenon - grip myotonia, repeated eye closure Percussion myotonia - Muscle contraction with percussion of thenar eminence. Wasting of the small muscles of the hand and forearm. Distal muscle weakness Hyporeflexia
28
What are all the ways in which myotonic dystrophy affects the body?
Myotonia Cognitive impairment Cataracts Hearing impairment Endocrine - diabetes, hypogonadism, secondary hyperparathyroidism Cardiovascular - arrhythmia, cardiomyopathy, sudden cardiac death Respiratory - obstructive sleep apnoea Gastrointestinal - transaminase elevation, constipation/diarrhoea. Hypogammaglobulinemia
29
What is myotonic dystrophy?
Most common form of muscular dsytrophy, classically presenting in 30s, characterised by progressive muscle weakness and myotonia (ie, abnormally slow or delayed muscle relaxation following a normal muscle contraction). Lots of associated abnormalities (cardiac, diabetes, infertility). Main types are DM1 and DM2. Autosomal dominant.
30
How are the 2 main types of myotonic dystrophy (DM1 and DM2) different?
DM1 more severe than DM2. Life expectancy reduced in DM1 but not DM2. Different pattern of weakness - DM1 affects facial muscle, bulbar muscles and distal muscles primarily whereas DM2 affects proximal muscle (hip girdle) mainly. Clinical myotonia is less common in DM2 but present in most cases of DM1
31
What is the diagnostic test for myotonic dystrophy?
Genetic testing for an expanded CTG repeat in the DMPK gene is the gold standard for confirming the diagnosis of DM1. Electromyography (EMG) will usually demonstrate the presence of myotonia if this has not been found clinically or if uncertainty persists regarding its presence or absence on examination
32
What would be included in the work up for myotonic dystrophy once diagnosis confirmed?
Depending to some degree upon the phenotype, most patients with DM1 and DM2 may need cardiac evaluations for arrhythmia and cardiomyopathy; forced vital capacity (FVC) for respiratory muscle weakness; polysomnography for sleep disorders; ophthalmologic examination for cataracts; swallowing assessment for dysphagia; cognitive and psychosocial assessments for intellectual, attentional, and psychiatric disorders; and endocrine testing for diabetes and hypothyroidism.
33
Are there any medications you can give for myotonic dystrophy?
Not to change prognosis - however: or occasional adult patients who have severe myotonia that interferes with function, we suggest initial therapy with mexiletine 450 or 600 mg daily in three divided doses. For adult patients with DM1 and severe (excessive daytime sleepiness) EDS, we suggest a trial of modafinil (200 mg twice daily
34
What is mmn with cb?
Multifocal motor neuropathy with conduction block. Very rare disease. autoimmune attack on peripheral motor nerves. antibodies to GM1 and evidence of demyelination with conduction block in peripheral motor nerves. Distal to proximal. Asymmetric in nature (as opposed to GBS or CIPD). No sensory involvement! Some response to IVIG (pred and plasma exchange worsen). Presents with difficulty using hands, keys, dropping things.
35
What is charcot marie tooth disease
refers to multiple genetic conditions causing demyelination or axonal damage of peripheral nerves. some forms x linked. Weakness, wasting of muscles in hands and feet. Pes cavus (high arch), hammer toes. sensory involvement- progressive, no cure. physio, pain relief. most patients remain ambulatory.
36
What is charcot marie tooth disease
refers to multiple genetic conditions causing demyelination or axonal damage of peripheral nerves. some forms x linked. Weakness, wasting of muscles in hands and feet. Pes cavus (high arch), hammer toes. sensory involvement- progressive, no cure. physio, pain relief. most patients remain ambulatory.
37
What are the features of motor neurone disease on examination?
Can be upper motor neurone, lower motor neurone or both. But only affects motor nerves - no sensory involvement. As can be either upper or lower motor neurone, can therefore get bulbar and/or pseudo bulbar palsy.
38
What is the difference between bulbar and pseudo bulbar palsy?
Bulbar palsy (LMN - think B for bottom) - nasal speech (as cant exclude air from nasal cavity when talking due to muscle palsy), absent gag reflex, tongue wasting and fasiculations, absent palate rise, absent (ie normal) jaw jerk. Pseudobulbar palsy (UMN) - dysarthria, increased/normal gag reflex, tongue spasticity, absent palate rise, increased jaw jerk.
39
What is NOT involved in motor neurone disease?
No sensory involvement or ocular palsies
40
What are the features of amyotrophic lateral sclerosis?
Type of motor neurone disease in which there is mixed upper and lower motor neurone involvement.
41
What are the features of primary lateral sclerosis?
Type of motor neurone disease in which there is mainly upper motor neurone involvement. Loss of upper motor neurons results in slowness of movement, incoordination, and stiffness with relatively little overt weakness. Arm or hand upper motor neuron symptoms include poor dexterity with resulting difficulty performing activities of daily living. Leg upper motor neuron symptoms manifest as a spastic gait with poor balance and may include spontaneous leg flexor spasms and ankle clonus
42
What are the features of progressive muscular atrophy?
Type of motor neurone disease in which the is mainly lower motor neurone involvement. Loss of lower motor neurones results in weakness, usually accompanied by atrophy and fasciculations. Muscle cramps are also common. Hand weakness causes difficulty manipulating small objects (buttons, zippers, coins) and using writing instruments. Proximal arm weakness results in difficulty elevating the arm to the level of the mouth or above the head. This can produce difficulty with bathing, dressing, grooming, and eating. Foot and ankle weakness results in tripping, a slapping gait, and falling. Proximal leg weakness results in difficulty arising from chairs, climbing stairs, and getting off of the floor. Balance may also be adversely affected. Lower motor neurone weakness affecting the trunk and spine may produce difficulty holding up the head and difficulty maintaining an erect posture as well as abdominal protuberance
43
What are the features of progressive bulbar palsy?
Type of motor neurone disease in which there is mainly bulbar involvement. Dysarthria and dysphagia are the most common bulbar upper motor neuron symptoms (table 2). Upper motor neuron or spastic dysarthria produces a characteristically strained vocal quality with slow speech. Upper motor neuron dysphagia results from slow and discoordinated contraction of the swallowing muscles, which may lead to coughing and choking. Another frequent bulbar upper motor neuron symptom is the syndrome of the pseudobulbar affect [36,37]. This is manifested as inappropriate laughing, crying, or yawning. This may occur as an early manifestation of ALS or may develop during the disease course
44
What is motor neurone disease?
Progressive neurodegenerative disorder affecting motor neurones leading to muscle weakness and eventually death. Usually sporadic rather than familial (10% only). ALS is the most common form.
45
What are the features of flail arm and flail leg syndrome?
Variants of motor neurone disease where there is asymmetrical lower motor neurone involvement of a single limb - weakness of proximal arm or leg that slowly progresses distally. Better prognosis, slower progression than other types of motor neurone disease.
46
How does ALS (most common form of motor neurone disease) typically present.
Weakness starting in asymmetrical nature in hand or foot, proximal start less common. Can be upper or lower motor neurone. Look for foot drop and split hand syndrome.
47
What is split hand syndrome?
Wasting of the hand in ALS in a way that affects the thenar muscles more than the hypothenar. Quite specific for ALS.
48
What are the patterns of weakness in the different types of myositis?
Polymyositis and dermatomyositis usually present with proximal weakness including neck extensor weakness. Inclusion body myopathy often presents with weakness in the quadriceps and weakness in the finger flexors that is out of proportion to intrinsic hand muscle weakness.
49
What signs point to cerebellar pathology on examination?
Wide based, ataxic gait Dysarthria Intention tremor Dysmetria - can't judge distance - over or undershoot Disdiadochokinesis Muscle wasting Nystagmus
50
What is a list of differentials for cerebellar pathology?
Trauma Vascular - ischemia, haemorrhage Malignancy Demyelination Drugs and toxins such as alcohol, lithium, phenytoin, chemo. Inherited causes - friedreich ataxia, spinocerebellar ataxia Paraneoplastic Hypothyroidism
51
What is friedreich ataxia?
Friedreich ataxia, a neurodegenerative disorder that is the most common of the hereditary ataxias, autosomal recessive. Result of mitochondrial accumulation of iron, which may promote injury caused by oxidative stress due to genetic defect (loss of function mutations in the frataxin (FXN) gene). The major clinical manifestations of Friedreich ataxia are neurologic dysfunction, cardiomyopathy, and diabetes mellitus. Reduced life expectancy, usually due to heart problems.
52
What is spinocerebellar ataxia?
Term used to describe the autosomal dominant inherited ataxias of which there are many. Do genetic testing then MRI if unrevealing .
53
What are the neurological features of friedreich's ataxia?
Progressive ataxia of limbs and gait Loss of reflexes (later). Motor weakness - lower limbs first then upper. Can get pes cavus and hammer toes. Cerebellar dysarthria Sensory loss in the distal limbs (proprioception and vibration sense) - pain and temp preserved. Dysphagia Reduced visual acuity, eye movement problems. Hearing loss eventually Bladder dysfunction (urgency - incontinence.) OSA
54
Differentials for bulbar palsy?
Due to cranial nerve dysfunction (9, 10, 12) Motor neurone disease Guillian Barre syndrome Polio Neurosyphillus Brainstem stroke
55
Differentials for pseudo bulbar palsy?
Upper motor neurone pathology of CN 9,10,12 Internal capsule stroke Multiple sclerosis Motor neurone disease Head injury
56
What are the findings in cerebellopontine angle syndrome?
Trigeminal (V) nerve palsy - reduced facial sensation Facial (VII) nerve palsy - facial droop / weakness Vestibulocochlear (VIII) nerve palsy - unilateral sensorineural hearing loss, (bruns) nystagmus, ataxia
57
What are the differentials for cerebellopontine angle sydrome?
caused by a malignancy affecting the cerebellopontine angle: Vestibular schwannoma Meningioma Cerebellar astrocytoma Brain metastasis
58
What will a complete transection of the spinal cord cause?
Segmental syndrome - sensory loss and upper motor neurone weakness below the affected level with bladder and bowel dysfunction.
59
What are the findings in a central cord syndrome - usually caused by C spine trauma or hyperextension of the cervical spine?
Bilateral upper motor neurone weakness affecting the upper limbs more than the lower limbs and loss of proprioception and vibration.
60
Proprioception and vibration are carried by?
the dorsal column (posterior aspect of cord)
61
What are the findings in a ventral cord syndrome - caused by anterior compression of the spinal cord or anterior spinal artery pathology?
Upper motor neurone weakness and loss of pain and temperature sensation, but preservation of proprioception and vibration sensation.
62
Pain and temperature are carried by?
the spinothalamic tract (anterio-lateral aspect of cord)
63
What are the findings in posterior compression of the spinal cord, or posterior spinal artery pathology (dorsal cord syndrome?)
Loss of proprioception and vibration sense (dorsal column) but preservation of motor function (corticospinal tract) and preservation of spinothalamic tract (pain and temp)
64
What is brown sequard syndrome and what are the examination findings?
Hemitransection of the spinal cord - ipsilateral upper motor neurone weakness and ipsilateral loss of proprioception and vibration (dorsal column), with contralateral loss of pain and temperature sensation (spinothalamic tract).
65
What is conus medullaris syndrome and what are the examination findings?
Distal upper and lower motor neurone weakness with perineal loss of sensation (saddle anaesthesia), urinary retention and faecal incontinence.
66
What is the difference between conus medullaris and cauda equina syndromes?
Conus medullaris is a squeeze at L1-L2 (the bulbous end of the spinal cord as the cauda equina comes out. Cauda equina is a squeeze lower down L2-L5 where there are only lower motor neurones. Both present with: Motor or sensory deficits in the legs – usually bilateral Lower motor neuron signs in the legs – areflexia, hypotonia Saddle anaesthesia Absent or decreased rectal tone Absent or decreased bulbocavernosus reflex Palpable bladder indicating urinary retention However It is important to note that in the case of isolated conus medullaris syndrome, deficits of the lower extremities are more often bilateral and symmetric. Also, upper motor neuron signs can be present, such as spasticity and hyperreflexia
67
L2, L3, L4 radiculopathy?
L2, L3, and L4 radiculopathies are most often seen in older patients with spinal stenosis. They are generally considered as a group because of marked overlap of innervation of the anterior thigh muscles. Acute back pain is the most common presenting complaint, often radiating around the anterior aspect of the thigh down into the knee.
68
L5 radiculopathy?
L5 radiculopathy is the most common radiculopathy affecting the lumbosacral spine. It often presents with back pain that radiates down the lateral aspect of the leg into the foot. On examination, strength can be reduced in foot dorsiflexion, toe extension, foot inversion, and foot eversion. Reflexes are generally normal.
69
L5 radiculopathy?
L5 radiculopathy is the most common radiculopathy affecting the lumbosacral spine. It often presents with back pain that radiates down the lateral aspect of the leg into the foot. On examination, strength can be reduced in foot dorsiflexion, toe extension, foot inversion, and foot eversion. Reflexes are generally normal.
70
S1 radiculopathy?
In S1 radiculopathy, pain radiates down the posterior aspect of the leg into the foot from the back. On examination, strength may be reduced in leg extension (gluteus maximus) and plantar flexion. Sensation is generally reduced on the posterior aspect of the leg and the lateral foot. Ankle reflex loss is typical.
71
What are the differentials for lumbrosacral radiculopathy?
In addition to a herniated disc, the differential diagnosis of lumbosacral radiculopathy includes lumbar spinal stenosis, cauda equina syndrome, diabetic amyotrophy, lumbosacral plexopathy, and mononeuropathies of the leg, such as femoral, sciatic, peroneal, and tibial nerve lesions.
72
Common peroneal nerve pathology
Damaged at the fibular neck, just below the knee. Usually caused by prolonged lying, leg crossing, squatting, leg cast or fracture of fibular neck. Symptoms: Foot drop, paresthesias and/or sensory loss over dorsum of foot and lateral shin. Signs: Weakness on foot dorsiflexion and eversion; sensory loss on dorsum of foot; reflexes normal. (Remember pEroneal = weak Eversion of ankle, Lfive = weak Inversion of ankle)
73
Common peroneal nerve pathology?
Damaged at the fibular neck, just below the knee. Usually caused by prolonged lying, leg crossing, squatting, leg cast or fracture of fibular neck. Symptoms: Foot drop, paresthesias and/or sensory loss over dorsum of foot and lateral shin. Signs: Weakness on foot dorsiflexion and eversion; sensory loss on dorsum of foot; reflexes normal. (Remember pEroneal = weak Eversion of ankle, Lfive = weak Inversion of ankle)
74
Deep peroneal nerve pathology?
Usually injured at the ankle by a tight fitting shoe or strap. Symptoms: Ankle pain, foot drop and sensory loss over web space between digits 1 and 2.
75
Posterior tibial nerve pathology?
Usually damaged in the tarsal tunnel of the ankle by fracture or dislocation of talus, calcaneus, medial malleolus, rheumatoid arthritis or a tumor. Symptoms: Aching, burning, numbness, tingling on sole of foot, distal foot, toes, and occasionally heel. Signs: Positive Tinel's sign over nerve posterior to medial malleolus; sensory loss on sole of foot; atrophy of foot muscles if severe
76
Sciatic nerve pathology?
If damaged at the sciatic notch (gluteal region) - most commonly by trauma (hip dislocation, fracture, or replacement), prolonged bed rest, deep-seated pelvic mass, piriformis syndrome there will be leg pain and weakness affecting most lower leg muscles. If damaged mid thigh by a femur fracture, mass, ischemic nerve infarction the weakness will spare the hamstrings. Signs: Sensory loss in peroneal, tibial, and sural territories; may spare medial calf and arch of foot; normal knee jerk; absent ankle jerk
77
Femoral nerve pathology?
Normally damaged in the pelvis or anterior thigh by hip or pelvic fracture, hip replacement, lithotomy position, diabetes mellitus. Symptoms: Quadriceps weakness and sensory loss over anterior thigh. Signs: Quadriceps weakness; sensory loss over anterior and medial thigh extending down medial shin to arch of foot; reduced or unobtainable knee jerk.
78
Lateral cutaneous nerve of thigh pathology?
Normally damaged at the inguinal ligament (meralgia paresthetica) by obesity, tight fitting belts, idiopathic, pregnancy. Symptoms: Paresthesias and pain radiating down the lateral thigh to knee. Signs: Sensory loss on lateral thigh.
79
Pathology of obturator nerve?
Rare, potentially caused by pelvic tumor such as TCC of the bladder resulting in compression. Results in pain, weakness in leg adduction, and sensory loss over a small area in the medial thigh.
80
unilateral foot drop with ankle jerk preserved, ankle inversion power preserved and sensation loss over lateral foot and leg?
Common peroneal nerve injury at knee
81
unilateral foot drop with ankle jerk preserved, ankle inversion power preserved and sensation loss between 1st and 2nd toe?
Deep peroneal branch of common peroneal nerve as it passes through ankle.
82
Unilateral foot drop with loss of ankle jerk and complete loss of sensation and power below the knee?
Sciatic nerve lesion
83
Unilateral foot drop with loss of ankle jerk and loss of sensation in dermatomal distribution?
Cauda equina syndrome
84
Bilateral foot drop with normal reflexes?
Distal neuropathy (LMN), myopathy
85
Bilateral foot drop with increased reflexes?
Conus medullaris or other spinal cord pathology Upper motor neurone lesion
86
unilateral foot drop with ankle jerk preserved, ankle inversion power reduced and additional weakness of hip abduction and knee flexion.
L5 nerve root lesion
87
In an ataxic gait due to a cerebellar lesion the person will fall towards or away from the side of the lesion?
Will fall towards the side of the lesion
88
What are the examination findings in fascioscapulohumeral dystrophy?
Facial weakness - particularly obicularis occuli Winging of the scapular preventing full shoulder abduction - may have scar from scapular fixation to increase ROM Bicep and tricep atrophy Foot drop High frequency hearing loss Retinal telangectasia
89
What is fascioscapulohumeral dystrophy?
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy. It is a complex genetic disorder characterised in most cases by slowly progressive muscle weakness involving the facial, scapular, upper arm, lower leg, and hip girdle muscles, usually with asymmetric involvement. Caused by inappropriate expression of the DUX4 gene. Other manifestations of FSHD may include pain, retinal vasculopathy, hearing loss, cardiac arrhythmia, cognitive impairment, and epilepsy. The management of FSHD is primarily supportive, as no disease-modifying therapy is available.
90
what are the findings in an isolated 4th nerve (trochlear) palsy?
when eye on affected side tries to move towards the nose it drifts upwards due to paralysis of superior oblique muscle which is responsible for pulling eye down and torsional movements. patients get double vision as a result and end up walking with head tilted away from affected side to compensate. difficulty walking down stairs and reading a book many causes of trochlear nerve palsy as long and tortuous nerve.
91
What are the findings in an isolated 3rd nerve (occulomotor) palsy?
pupil down and out on affected side, ptosis, possibly pupil dilated. if surgical cause, ie external compression, then pupil will be dilated. important example includes posterior inferior communicating artery aneurysm. if medical cause, ie nerve problem from inside out then pupil constriction will be conserved until very severe.
92
what are the findings in an isolated 6th nerve (abducens) palsy?
double vision in horizontal gaze to side of lesion. lateral rectus muscle palsy. unable to abduct affected eye causes include stroke but also a finding in benign intercranial hypertension (in which there would also papillo oedema on fundoscopy)
93
Pattern 1: Symmetric proximal and distal weakness with sensory loss
Consider: inflammatory demyelinating polyneuropathy (GBS and CIDP)
94
Pattern 2: Symmetric distal sensory loss with or without distal weakness
Consider: cryptogenic sensory polyneuropathy (CSPN) metabolic disorders drugs, toxins hereditary (Charcot-Marie-Tooth, amyloidosis and others)
95
Pattern 3: Asymmetric distal weakness with sensory loss
Multiple nerves, consider: vasculitis hereditary neuropathy with liability to pressure palsies (HNPP) multifocal acquired demyelinating sensory and motor (MADSAM) neuropathy infectious (leprosy, lyme, sarcoid, HIV) Single nerves/regions, consider: compressive mononeuropathy and radiculopathy
96
Pattern 4: Asymmetric proximal and distal weakness with sensory loss
Consider: polyradiculopathy or plexopathy due to diabetes mellitus, meningeal carcinomatosis or lymphomatosis, sarcoidosis, amyloidosis, Lyme, idiopathic, hereditary (HNPP, familial)
