Х-зчеплена хвороба Шарко-Марі-Тута, тип 5

Визначення(English summary)

A rare genetic peripheral sensorimotor neuropathy characterized by infancy-to childhood onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.