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progressive lower motor neuron disease (PLMND)
Pathology:
- motor neuron disease
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
General
genetic disease of muscle (inherited myopathy)
genetic disease of the central nervous system
motor neuron disease
Database Correlations
OMIM 607641
References
OMIM :accession 607641