Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Orpha code: 284271OMIM code: 614229

Definition

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
Classification

Disease

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

No additional description.

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