Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією DGAT2

Визначення(English summary)

A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.