Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2М
ORPHA:228179· ICD-10 G60.0· Autosomal dominant Charcot-Marie-Tooth disease type 2M
Визначення(English summary)
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- All ages