Autosomal dominant adult-onset proximal spinal muscular atrophy
ORPHA:209335· ICD-10 G12.1
Definition
A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly