Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2С
ORPHA:99937· ICD-10 G60.0· Autosomal dominant Charcot-Marie-Tooth disease type 2C
Визначення(English summary)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult, Childhood, Infancy