Дистальна спадкова моторна нейропатія, тип 2
ORPHA:139525· ICD-10 G12.2· Distal hereditary motor neuropathy type 2
Визначення(English summary)
A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult