Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2J
ORPHA:99943· ICD-10 G60.0· Autosomal dominant Charcot-Marie-Tooth disease type 2J
Визначення(English summary)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.
- Успадкування
- Autosomal dominant
- Вік початку
- Adult