Дистальна спадкова моторна нейропатія, тип 1
ORPHA:139518· ICD-10 G12.2· Distal hereditary motor neuropathy type 1
Визначення(English summary)
Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult, Childhood