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