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Neuromuscular diseases Flashcards

1
Q

What symptoms do UMN diseases produce?

A
  • Spastic tone,
    • hyperactive tendon reflexes,
    • pathological reflexes (babinski)
    • Emotional lability (inappropriate laughing and crying)
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2
Q

What symptoms do the damage of sensory and autonomic nerves produce?

A
  • Numbness,
    • abnormal painful sensations
    • Bowel and bladder disturbance
    • Alterations in sensation, sweating, heart rate and blood pressure
    • (think of all the ANS tissue targets and what might happen if they were not innervated with proper tone)
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3
Q

What symptoms do LMN diseases produce?

A

• Muscle atrophy, fasciculations, diminished tone and reduced or absent reflexes

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4
Q

If there are no sensory problems associated with weakness found by exam, what does that suggest?

A
  • NMJ problem
    • Motor neuron problem
    • Muscle disease
    • (if there are sensory problems as well that suggests an entire nerve problem)
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5
Q

What goes on your differential if there is a rapid progression of symptoms? (hours to days)

A
  • NMJ disorders like MG, botulism and organophosphate poisoning
    • Acute demyelination in Guillan Barre syndrome
    • Electrolyte disturbance
    • Toxic myopathies
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6
Q

What are the three distribution patterns of weakness?

A
  • Proximal, distal and cranial
    • Proximal is weakness in posture and walking (climbing stairs, getting out of a chair)
    • Distal weakness, indicative of neuropathy, is in the hands and feet (foot drop, trouble holding things or turnig a key)
    • Cranial is seen in MG, droopy eyelids (ptosis), double vision and speaking/swallowing abnormalities
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7
Q

The symptom “stiffness” can reflect what problem?

A
  • Myotonia, delayed relaxation of muscle following voluntary contraction
    • A problem either with excitation machinery being overactive OR the membrane can’t regain the hyperpolarized potential
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8
Q

What enzyme studies can you request for NMJ disorders?

A
  • Muscle necrosis results in elevated levels of serum creatinine kinase (CK)
    • Highest levels of CK occur with myoglobinuria
    • Muscular dystrophies and inflammatory myopathies have moderate elevations
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9
Q

What are some signs to look for in infants with NMJ disorders?

A
  • Decreased tone (floppy baby)

* Delay in motor milestones

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10
Q

What are some electrodiagnostic studies you can request if you are suspecting a neuromuscular disease?

A

• Want to distinguish neuropathic from myopathic
• NCS - nerve conduction studies
○ Give you a baseline and numbers to follow for the course of the disease
○ Broadly differentiate between primary demyelinating (super slow conduction) and axonal neuropathies
• Needle EMG
○ Often complement to NCS and helps differentiate myopathic from neuropathic
○ If a nerve problem, the whole motor unit fails
○ If muscle problem, individual fibers of the motor unit fail
• Repetitive nerve stimulation
○ Allows you to look at a muscle in the context of extreme work, and in MG you see depletion take its toll

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11
Q

What should go on your differential of “myopathies”?

A

• Muscular dystrophies
○ Duchenn/becker, limb girdle, FSH
• Myotonic disorders
○ Myotonia congenital, myotonic dystrophy
• Inflammatory myopathies
○ Polymyositis, dermatomyositis, inclusion body myositis
• Endocrine myopathies
• Metabolic myopathies
○ Glycogen storage, lipid myopathy, mitochondrial myopathy
• Toxic myopathies
• Periodic paralysis

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12
Q

What does ALS stand for?

A
  • Amyotrophic lateral sclerosis
    • Characterized by progressive weakness and wasting from degeneration of brainstem and spinal cord lower motor neurons
    • Coexisting spasticity and hyperreflexia b/c of UMN syndrome
    • Most cases are sporatdic, though less than 10% are familial
    • Initial clinical symptoms may be limited to asymmetric limb weakness in the presence of fasciculations
    • Foot drop or marked hand deformity resulting from interosseus wasting may be seen
    • Pathological reflexes can be seen
    • Sensory exam is normal, but speech may develop a slurred or spastic quality
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13
Q

What initial signs and symptoms point to ALS?

A
  • Initial clinical symptoms may be limited to asymmetric limb weakness in the presence of fasciculations
    • Foot drop or marked hand deformity resulting from interosseus wasting may be seen
    • Pathological reflexes can be seen
    • Sensory exam is normal, but speech may develop a slurred or spastic quality
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14
Q

What is the average survival of ALS after ddx?

A
  • 3-4 years, but 10% survive 10 years or longer
    • Fatal aspiration pneumonia is common from defects in swallowing
    • Also diaphragm weakness is a problem
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15
Q

What is the average survival of ALS after ddx?

A
  • 3-4 years, but 10% survive 10 years or longer
    • Fatal aspiration pneumonia is common from defects in swallowing
    • Also diaphragm weakness is a problem
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16
Q

What are the treatments for ALS?

A
  • Primarily symptomatic
    • Medications for cramps, spasticity, excess saliva and inappropriate laughing or crying
    • Riluzole has been shown to slow progression slightly (extend life 3 mo)
    • Braces and durable medical equipment for mobility
    • Alternative communication devices
    • Feeding tube and ventilation
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17
Q

Many different inherited neuropathies are often lumped into what disease name?

A
  • CMT - Charcot Marie Tooth
    • Autosomal dominant forms are CMT1 and CMT2
    • CMT1 is slow nerve conduction and hypertrophic demyelinating neuropathy
    • CMT2 is normal nerve conduction velocities and axonal degeneration
    • There are many new genes being liked to the disease, and the only one we talked about in detail is CMT1A
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18
Q

What do most patients with CMT present with?

A

• One of three phenotypes based on the age at symptom onset
• Most common - distal hand and foot weakness and sensory loss develops slowly in the first two decades of life
○ Patients don’t need much more than walking aides
• Second phenotype - already impaired as infants and experience delayed walking
○ Many are later confined to wheelchair
• Third phenotype - adult onset that appears at 40ish years

19
Q

If the same gene that CMT1A has duplicated is instead deleted, what’s the result?

A
  • Gene is PMP22

* If this gene is deleted, it results in HNPP, hereditary neuropathy with liability to pressure palsies

20
Q

What’s up with CMT1A?

A
  • Duplication of the DNA containing the peripheral myeling protein gene PMP22
    • If this gene is deleted, it results in HNPP, hereditary neuropathy with liability to pressure palsies
21
Q

What electricity test is used most in diferentiating CMT disease?

A
  • NCVs - nerve conduction velocities
    • Cutoff for demyelinating and axonal forms are 38m/sec
    • There are some intermediate forms though 35-45m/sec
    • This test and family history guides you in asking for certain genetic tests
22
Q

What is the treatment regime for CMT?

A
  • PT to maintain muscle strength and ROM
    • OT to improve hand function and provide tools to aid activities of daily living
    • Orthotics for ambulation aid and reduce falls
    • Treat neuropathic pain
23
Q

What is the most common type of diabetic neuropathy?

A
  • Distal sensory or sensorimotor polyneuropathy
    • Initially complain of numbness and burning dysesthesias in their feet
    • Spreads to legs and eventually hands
    • Weakness of foot dorsiflexor muscles results in a slapping foot drop gait
    • Grip strength and fine hand dexterity may be diminished as well
24
Q

What ANS problems can happen in diabetic neuropathy

A
  • These can occur with or without other evidence of neuropathy
    • Postural hypotension
    • Diarrhea
    • Impotence
    • Urinary retention
    • Increased sweating
25
Q

On examination what does one see in diabetic neuropathy?

A
  • Pin sensasion loss in a stocking glove distribution but the distribution is often somewhat asymmetric
    • Loss of position, vibration, light touch
    • Decreased reflexes in a large fiber pattern
    • Great loss of pain and temperature sensation - indicates predominantly small fiber injury
    • Pain may have a dull aching quality in the limbs and also a distal, burning discomfort most prominent at night
26
Q

What’s up with lumbosacral plexopathy?

A

• A complication in diabetic neuropathy
• Characterized by acute onset of asymmetrical proximal weakness and pain of the legs
• Frequently occurs at the onset of diabetes and may be associated with weight loss
• Mononeuropathies can affect almost any peripheral nerve as wella s cranial nerves, particularly the extraocular muscles
○ 3rd and 6th nerve palsies

27
Q

What’s up with 3rd and 6th nerve palsies?

A

• Mononeuropathies can affect almost any peripheral nerve as wella s cranial nerves, particularly the extraocular muscles

28
Q

What are the treatments for diabetic neuropathy?

A
  • Metabolic control is likely helpful
    • Medications for pain like anticonvulsants, antidepressants and narcotic analgesics
    • Foot hygiene is imperitive to avoid trophic ulcers of the feet
    • Codeine and diphenoxylate for diarrhea
    • Support stockings and fluorocortisone or midodrine for postural hypotension
29
Q

What drugs make you think diabetic neuropathy treatment?

A
  • fluorocortisone or midodrine for postural hypotension
    • Codeine and diphenoxylate for diarrhea
    • Medications for pain like anticonvulsants, antidepressants and narcotic analgesics
30
Q

Patients with MG often have what other (gland) signs?

A
  • 85% have thymic enlargement

* 10% have a thymoma

31
Q

How do you confirm dx of MG?

A
  • Presence of achr antibodies in serum
    • Some have MUSK antibody which binds portion of the postsynaptic membrane
    • Intravenous injection of edrophonium, an ache inhibitor, temporarily improves strength and corrects the depletion after repetitive nerve stimulation
32
Q

What are the signs and symptoms of MG?

A
  • Often family history of autoimmune disorders
    • Thymic enlargement is common
    • Fluctuating weakness and fatigue in cranial, limb or trunk musculature are characteristic
    • Ocular symptoms lik eptosis, diplopia and blurred vision
    • Facial muscles are weak and speech may become slurred, nasal and hoarse
    • Progressive trouble chewing and swallowing and eventual choking and aspiration of food and saliva
    • Neck muscle weakness
    • Respirator muscle weakness
    • Limb muscle weakness is usually not AS big of an issue
33
Q

What is the treatment for MG?

A

*great management can lead to a great quality of life, which I found surprising
• Symptomatic relief with oral ache inhibitors like pyridostigmine
• Corticosteroids (prednisone) and other immunosuppressive agents (azathioprine, mycophenolate mofitil) are used
• Temporary (2-3 weeks) dramatic improvemtn is seen following plasma exchange or IV IG infusion
• Thymectomy is recommended for all patients with generalized MG except super young and old

34
Q

Why is thymectomy recommended inmost MG patients?

A

• Thymectomized patients need less immunosuppressive medications and experience fewer medication side-effects

35
Q

What kind of inherited disorders are duchenne and becker dystropy?

A
  • X-linked recessive disorders

* Variety of deletions, duplications and point mutations in the area of the X chromosome coding for dystrophin

36
Q

What are the molecular genetic ideas for treatment?

A
  • Upreguatin utrophin, a shorter isoform of dystrophin
    • Admin gentamycin that helps read through stop codons
    • Gene therapy by introduction of healthy gene in stem cells
37
Q

Are there drug treatmetns for DUD/BD?

A
  • Controversial
    • Immunosuppressive medications slow progression slightly
    • Use can have complications with growth, weight gain and behavioral problems
38
Q

How can you determine a carrier status or test the fetus for muscular dystrophy?

A
  • Amniocentesis
    • Chorionic villi biopsy
    • Peripheral blood of the mother
39
Q

How can you confirm DUD/BD diagnosis?

A
  • Elevated CK (20-100 fold increase)

* Muscle biopsy shoes characteristic features but aren’t so used b/c less invasiv DNA tests

40
Q

DUD kills people by what final pathway?

A

• Weakness of respiratory muscles and heart failure in late teens or early 20s

41
Q

What do you worry about in boys with DUD that are wheelchair confined?

A

• Kyphoscoliosis, contractures of all joints, equinovarus deformities of the feet

42
Q

What does DUD look like?

A
  • Boys have a clumsy waddling gait from the time they first walk
    • Proteuberant abdomen results from an accentuation of the lumbar lordosis
    • Enlargement of the calves (pseudohypertrophy)
    • Tight heel cords with a tendency to toe walk
    • Difficulty in rising from the floor (Gower’s maneuver)
    • Subnormal intelligence is common
    • Eye movements, swallowing and sensation are unaffected
    • 9-12 years old, walking is probably unsafe
43
Q

How does BD differ from DUD?

A 
• Duchenne = DUD
	• BD = becker
		○ Onset is usually later and course is more benign
		○ Shorter protein, not fully absent
		○ Less mental impairment

Neuro (59 decks)

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