Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Orpha code: 284271OMIM code: 614229

Definicja

A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.

Disease data
Klasyfikacja

Disease

Synonimy
Autosomal recessive spinocerebellar ataxia type 11
Autosomalna recesywna ataksja rdzeniowo-móżdżkowa-11
SCAR11
SCAR11
Kod ORPHA
284271
Kod OMIM
614229
Kod ICD10
G11.1
Kod ICD11
-

No additional description.

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