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Хвороба Шарко-Марі-Тута, тип 2B5

ORPHA:228374· ICD-10 G60.0· Charcot-Marie-Tooth disease type 2B5

Визначення(English summary)

A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Childhood, Infancy