Motor neuron disease Flashcards

1
Q

what is motor neuron disease

A

rapidly progressive and fatal disorder
progressive neurodegeneration of upper and lower motor neurons

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2
Q

what are the risk factors for MND

A

male
increasing age
hereditary disposition

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3
Q

what is the neuropathology of MND

A

gross atrophy of the primary motor cortex
thinning of atrophic anterior roots
degenerating anterior horn cell body containing eosinophilic (too many WBCs) ‘Bucina bodies’
abnormal TPD-43 protein
also affects corticospinal tract and motor neurons

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4
Q

what are the subtypes of MND

A

amyotrophic lateral sclerosis
progressive bulbar palsy
progressive muscular atrophy
primary lateral sclerosis
overlap with frontotemporal dementia

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5
Q

common MND symptoms

A

muscle masting and weakness
fasciculation (muscle twitching)
cramps
spasticity (stiffness)
breathing problems
speech and swallowing problems
problematic saliva
weight loss
fatigue
pain
cognitive behaviour change
oculomotor and sphincter function is relatively spared

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6
Q

autosomal inherited forms of MND

what gene is associated

A

expansions in C9orf72 protein and mutations in SOD1 enzyme account for the majority of inherited cases
large variation in clinical features between and within families
C9orf72 associated with frontotemporal dementia
predictive testing available for at-risk family members

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7
Q

what is the diagnosis of MND based on

A

symptoms
clinical examination findings
neurophysiological findings
neuroimaging
laboratory studies (exclusion of other diseases)

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8
Q

what are the findings in neuroimaging of suspected MND

A

frontotemporal atrophy
corticospinal tract change
exclusion of myelopathy (spinal cord compression in cervical or thoracic region

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9
Q

what are some mimic of MND

A

cervical radiculomyelopathy
concomitant cervircal and lumbar stenosis
benign fasciculation syndrome
multifactorial motor neuropathy with conduction block
inflammatory myopathies

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10
Q

treatment for MND

A

riluzole - glutamate antagonist which extends life by 2-3months
interdisciplinary management

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