Дистальна спадкова моторна нейропатія, тип 7
ORPHA:139589· ICD-10 G12.2· Distal hereditary motor neuropathy type 7
Визначення(English summary)
A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult, Childhood