Синдром сенсорної атактичної нейропатії-дизартрії-офтальмопарезу
ORPHA:70595· ICD-10 G71.3· Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Визначення(English summary)
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Adult