progressive lower motor neuron disease (PLMND)
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Pathology
Genetics
- autosomal dominant
- associated with defects in DCTN1
Clinical manifestations
- onset in early adulthood
- breathing difficulty due to vocal fold paralysis
- progressive facial weakness
- weakness & muscle atrophy in the hands
- weakness & muscle atrophy in the distal lower extremities developed later
- no sensory symptoms
More general terms
- genetic disease of muscle (inherited myopathy)
- genetic disease of the central nervous system
- motor neuron disease