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Синдром Мітчелла

ORPHA:631248· ICD-10 G60.8· Mitchell Syndrome

Визначення(English summary)

A rare genetic neurological disorder characterized by childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in a waxing and waning course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant