Distal myotilinopathy
ORPHA:98911· ICD-10 G71.8
Definition
A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly