Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2D
ORPHA:99938· ICD-10 G60.0· Autosomal dominant Charcot-Marie-Tooth disease type 2D
Визначення(English summary)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult