Motor neuron disease Flashcards
what is motor neuron disease
rapidly progressive and fatal disorder
progressive neurodegeneration of upper and lower motor neurons
what are the risk factors for MND
male
increasing age
hereditary disposition
what is the neuropathology of MND
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
what are the subtypes of MND
amyotrophic lateral sclerosis
progressive bulbar palsy
progressive muscular atrophy
primary lateral sclerosis
overlap with frontotemporal dementia
common MND symptoms
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
autosomal inherited forms of MND
what gene is associated
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
what is the diagnosis of MND based on
symptoms
clinical examination findings
neurophysiological findings
neuroimaging
laboratory studies (exclusion of other diseases)
what are the findings in neuroimaging of suspected MND
frontotemporal atrophy
corticospinal tract change
exclusion of myelopathy (spinal cord compression in cervical or thoracic region
what are some mimic of MND
cervical radiculomyelopathy
concomitant cervircal and lumbar stenosis
benign fasciculation syndrome
multifactorial motor neuropathy with conduction block
inflammatory myopathies
treatment for MND
riluzole - glutamate antagonist which extends life by 2-3months
interdisciplinary management
