ММЕ-асоційована аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2

Визначення(English summary)

A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.