Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Synonyms: Autosomal recessive spinocerebellar ataxia type 11 | SCAR11
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Autosomal recessive cerebellar ataxia-psychomotor delay syndrome?
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