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Lower motor neuron syndrome with late-adult onset

ORPHA:276435· ICD-10 G12.1

Definition

A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Adult