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BPT Neurology > Myopathy and Myasthenia > Flashcards

Myopathy and Myasthenia Flashcards

1
Q

What are the hereditary causes of muscle disease?

A 
muscular dystrophies
congenital myopathies
myotonias
channelopathies
metabolic myopathies
mitochnodrial myopathies
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2
Q

What are the acquired causes of muscle disease?

A

inflammatory/immune myopathies
myopathies associated with systemic illness
endocrine myopathies
drug induced/toxic myopathies

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3
Q

What is the most common pattern of myopathy?

A

proximal ‘limb girdle’ weakness

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4
Q

What is the classic pattern of fascioscapulohumeral muscular dystrophy?

A

proximal arm/distal leg (scalpuloperoneal) weakness

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5
Q

What is the classic pattern of inclusion body myositis?

A

distal arm/proximal leg weakness

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6
Q

What does weakness of flexion of the distal thumb (weakness of flexor pollicis longus) usually indicate?

A

inclusion body myositis

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7
Q

What are the causes of the pattern ptosis with or without ophthalmoplegia?

A

mitochondrial myopathies (CPEO)
oculopharyngeal muscular dystrophy
cranial neuropathies
myasthenia gravis

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8
Q

What investigations should be ordered to investigate myopathy?

A 
CK, urine myoglobin
EMG
autoimmune tests
muscle imaging
muscle biopsy
genetic testing
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9
Q

What is the difference between myotonia and paramyotonia?

A

myotonia improves with exercise

paramyotonia worsens with exercise

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10
Q

What is the commonest inherited neuromuscular disease in adults?

A

myotonic dystrophy type 1

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11
Q

What is the inheritance pattern of myotonic dystrophy type 1?

A

autosomal dominant

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12
Q

A mutation in which gene causes myotonic dystrophy type 1?

A

myotonin protein kinase (DMPK)

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13
Q

What type of mutation causes myotonic dystrophy type 1?

A

CTG repeat

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14
Q

What is the characteristic weakness of myotonic dystrophy type 1?

A

distal > proximal

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15
Q

What are the clinical features of myotonic dystrophy type 1?

A 
myotonia
weakness
sternomastoid/temporalis wasting
frontal balding
diabetes/insulin resistance
hypogonadal, hypopituitary
cataracts
intellectual impairment
cardiac conduction defects
cardiomyopathy
respiratory and swallowing difficulties
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16
Q

What is the differential diagnosis for episodic recurrent weakness?

A

myasthenia
periodic paralysis
CIDP
porphyria

17
Q

What is the differential diagnosis for episodic recurrent myalgia?

A

myositis
connective tissue disease
CIDP
metabolic defects

18
Q

What is the differential diagnosis for recurrent rhabdomyolysis?

A

toxic
viral myositis
dystrophy
metabolic defects

19
Q

What are the two types of metabolic myopathies?

A

lipid storage myopathy

glycogen storage myopathy

20
Q

What type of exercise precipitates lipid storage myopathy?

A

prolonged moderate exercise

21
Q

What type of exercise precipitates glycogen storage myopathy?

A

brief high intensity exercise

22
Q

What is the commonest familial metabolic cause of rhabdomyolysis?

A

CPT II deficiency (lipid storage myopathy)

23
Q

What are the treatment options for myasthenia gravis?

A 
pyridostigmine
corticosteroids
IVIG
PLEX
oral immunosuppressants (e.g. azathioprine, mycophenolate)
24
Q

Is rituximab used in myasthenia gravis?

A

treatment of choice for MuSK + MG (IgG4 disease)

sometimes used for AChR + MG

25
Q

What is the mechanism of action of eculizumab?

A

complement inhibitor

26
Q

What did the MGTX study show?

A

thymectomy is effective compared to pred alone for treatment of MG

27
Q

Which patients have NT5C1a autoantibodies?

A

inclusion body myositis patients

28
Q

Does stopping the statin treat anti-HMGCoA reductase myopathy?

A

no

29
Q

Which particular antibodies are associated with cancer in dermatomyositis?

A

TIF gamma Ab
NXP2
anti p155

30
Q

What is eteplirsen?

A

an oligomer which triggers excision of exon 51 during pre-mRNA splicing of the dystrophin RNA transcript - used to treat DMD

BPT Neurology (11 decks)

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