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Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2G

ORPHA:99941· Autosomal dominant Charcot-Marie-Tooth disease type 2G

Визначення(English summary)

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course.