Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

Orpha code: 70595OMIM code: 607459

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
SANDO
SANDO
Kod ORPHA
70595
Kod OMIM
607459
Kod ICD10
G71.3
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl