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AIP: Acute weakness > Motor Neurone Disease > Flashcards

Motor Neurone Disease Flashcards

1
Q

What is motor neurone disease?

A

describes a spectrum of heredo-degenerative diseases of the peripheral and central motor nerves

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2
Q

What is the lifetime risk of MND in the USA and Europe?

A

1/400

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3
Q

What is the gender ratio of MND?

A

2:1 male to female

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4
Q

What is the mean age of onset of MND for sporadic cases?

A

50-60 years; rare below age 40

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5
Q

What proportion of cases of MND are sporadic vs familial?

A

90% of cases sporadic, 10% familial

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6
Q

What are 3 examples of the genes that familial MND can be associated with?

A
  1. SOD1
  2. FUS
  3. C9ORF72
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7
Q

What is the classification of types of MND based upon?

A

distinguishing sporadic from familial and division into 4 clinical groups based on distribution of motor neurone involvement

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8
Q

What are the 4 clinical groups of MND?

A
  1. Spinal amyotrophic lateral sclerosis
  2. Bulbar amyotrophic lateral sclerosis
  3. Progressive muscular atrophy
  4. Primary lateral sclerosis
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9
Q

What is the most common variant of motor neuron disease?

A

amyotrophic lateral sclerosis

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10
Q

What is the presentation of amyotrophic lateral sclerosis (ALS)?

A

mixed clinical picture of upper and lower motor neuron signs

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11
Q

What symptoms are seen with bulbar ALS?

A
  • early tongue and bulbar involvement
  • palsy of tongue, muscles of chewing/swallowing and facial muscles due to loss of function of brainstem motor nuclei
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12
Q

What symptoms are seen with progressive muscular atrophy?

A

only lower motor neuron features; affects distal muscles before proximal

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13
Q

What type of symptoms are seen with primary lateral sclerosis?

A

only upper motor neurone features

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14
Q

What symptoms are seen with spinal ALS?

A

the classic MND syndrome - upper and lower motor neuron signs

typically LMN signs in arms and UMN signs in legs

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15
Q

What are 3 features of motor neuron disease which carry poorer prognosis?

A
  1. Early bulbar involvement
  2. Early respiratory muscle involvement
  3. Older age at onset
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16
Q

What feature of motor neurone disease is associated with more protracted survival?

A

more prominent lower motor neuron features

17
Q

Which 2 groups of muscles are usually spared until late in the disease course of MND?

A

eye and sphincter muscles

18
Q

What 2 neurological symptoms are not seen in MND ever and should prompt consideration of an alternative diagnosis?

A
  1. sensory disturbance
  2. cerebellar signs
19
Q

What are 8 aspects of the management of MND?

A
  1. Supportive treatment coordinated via MDT approach
  2. Non-invasive ventilation if T2RF
  3. Pain relief
  4. Treatment of spasticity and contractures
  5. Management of drooling with anticholinergics (including TCAs)
  6. Supportive feeding via NG/PEG eventually
  7. only 1 DMT: Riluzole
  8. Early discussion of advanced care planning
20
Q

What is the only disease modifying treatment available for MND?

A

Riluzole

21
Q

How effective is Riluzole? What effect does it have on prognosis?

A

results are modest at best; shown to prolong life by 3 months

22
Q

What is the mechanism of action of Riluzole?

A

antiglutamatergic drug which dampens motor nerve firing

23
Q

In which group of MND patients can non-invasive ventilatin be useful?

A

can prolong survival in patients with type 2 respiratory failure

24
Q

What are 2 things which can be used to treat spasticity and contractures in MND?

A
  1. Baclofen
  2. Botox injections
25
Q

What class of drug can be used to treat drooling in MND?

A

anticholinergics, including TCAs

26
Q

When may supportive feeding e.g. via NG or PEG be indicated?

A

as bulbar disease progresses

27
Q

How is a diagnosis of MND made?

A

clinical diagnosis

28
Q

What are 3 investigations which may be performed to aid the diagnosis of MND, although it is a clinical diagnosis?

A
  1. Nerve conduction studies
  2. Electromyography
  3. MRI
29
Q

What will nerve conduction studies show in MND?

A

normal motor conduction, can help exclude neuropathy

30
Q

What will EMG show in MND?

A

reduced number of action potentials with increased amplitude

31
Q

Why might MRI be performed in MND?

A

usually performed to exclude differential diagnosis of cervicla cord compression and myelopathy

32
Q

Does MND always fit into a single category?

A

no, in some patients there is a combination of clinical patterns

33
Q

What proportion of all patients with MND have ALS?

A

50%

34
Q

In familial cases of ALS where does the responsible gene lie and what does the gene code for?

A

chromosome 21, codes for superoxide dismutase

35
Q

Which type of MND carries the best prognosis?

A

progressive muscular atrophy

36
Q

Which type of MND carries the worst prognosis?

A

progressive bulbar palsy

37
Q

Which type of non-invasive ventilation is usually used for respiratory support in MND?

A

BiPAP

38
Q

What is the survival benefit of NIV respiratory support in MND?

A

survival benefit of around 7 months

39
Q

What is the overall prognosis of MND?

A

poor - 50% of patients die within 3 years

AIP: Acute weakness (18 decks)

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