Neuromuscular Disease Supplementary Flashcards

1
Q

What are 3 causes of presynaptic neuromuscular disorders?

A

abnormality of calcium, sodium or magnesium
botulism
lambert eaton myasthenic syndrome

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2
Q

What organism is present in soil & can infect through food, wounds or heroin use?

A

Clostridium botulinum

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3
Q

How does the botulinum toxin disrupt the NMJ and how does it present?

A

cleaves presynaptic proteins involved in vesicle formation & blocks vesicle docking
presents as rapid onset weakness without sensory loss

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4
Q

What is the treatment for botulism?

A

Supportive, will improve

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5
Q

Lambert Eaton Myasthenic Syndrome has a strong association with large cell carcinoma. True/false?

A

False - small cell carcinoma

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6
Q

How does Lambert Eaton Myasthenic Syndrome disrupt the NMJ?

A

antibodies to presynaptic calcium channels causes less vesicle release

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7
Q

What is the treatment for Lamber Eaton Myasthenic Syndrome?

A

3-4 diaminopyridine

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8
Q

What is the classic presentation of Myasthenia Gravis?

A

bilateral facial weakness
extraocular weakness, facial and bulbar weakness
limb weakness proximal
struggling to chew, hold head up

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9
Q

At what point do symptoms tend to start with myasthenia gravis?

A

When ACh receptors are reduced to about 30%

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10
Q

75% of Myasthenia Gravis patients have hyperplasia or thymoma. True/false?

A

True

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11
Q

What are the 2 peak ages of incidence for myasthenia gravis?

A

females in 3rd decase

males in 6th and 7th decades

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12
Q

How is diagnosis for myasthenia gravis made?

A

clinical: fatiguability doing task
diplopia, ptosis, head drop that comes and goes
Investigations: serum AChR antibodies and single fibre EMG & CT chest

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13
Q

What are the acute treatment options for myasthenia gravis?

A
acetylcholinesterase inhibitor (pyridosigmine) 
intravenous immunoglobulin
plasma exchange 
thymectomy
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14
Q

What is the long term treatment for myasthenia gravis?

A

immunomodulating with steroids, steroid sparing agents (azathiprine/mycophenolate)

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15
Q

What is the drug you MUST avoid in myasthenia gravis?

A

Gentamicin

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16
Q

____ surrounds a muscle fibre and ____ surrounds 20-80 muscle fibres as a fascile and ____ surrounds an individual muscle.

A

Endomysium
Perimysium
Epimysium

17
Q

What protein most commonly causes neuromuscular disease?

A

Dystrophin

18
Q

What are the 4 main symptoms of muscle disease?

A

myalgia
muscle weakness
wasting
hyporeflexia

19
Q

Fasciculations are usually a sign of disease of the muscle not the motor neurone. True/false?

A

False - usually sign of disease of motor neurone

20
Q

Myotonia is associated with disorders of what channel?

A

Chloride

21
Q

Give an example of disease for each pathology of muscle:

  • acute inflammation and fibre necrosis
  • genetically determine metabolic failure
  • infiltration by inflammatory tissue
  • immunological damage
  • ion channel disorders
A
  • acute inflammation and fibre necrosis: polymyositis
  • genetically determined metabolic failure: muscular dystrophies
  • infiltration by inflammatory tissue: sarcoidosis
  • immunological damage: myasthenia
  • ion channel disorders: hereditary myotonias
22
Q

What are investigations for muscle problems?

A
  • blood tests: CK, ALT, lactate indicates mitochondria problems, antibodies
  • biopsy
  • MRI
23
Q

What degenerative immune mediated muscle disease presents as slowly progressive weakness with characteristic thumb sparing?

A

Inclusion body myositis

24
Q

Myotonic dystrophy is autosomal dominant and is a trinucleotide repeat disorder with anticipation. True/false?

A

True

25
Q

Name four organisms that can cause muscle problems.

A

coxsacchie
trpanosomiasis
cistercercosis
borrelia

26
Q

What 2 common drugs can cause myopathies?

A

statins

steroids

27
Q

What are 4 main potential causes of rhabdomyolysis?

A

crush injuries
toxins
post convulsions
extreme exercise

28
Q

How do rhabdomyolysis patients present?

A

Triad of myalgia, muscle weakness and myoglobinuria