Spectrin-associated autosomal recessive cerebellar ataxia
Synonyms: Autosomal recessive spinocerebellar ataxia type 14 | Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome | SCAR14 | SPARCA | SPARCA1 | Spectrin-associated autosomal recessive cerebellar ataxia type 1
Spectrin-associated autosomal recessive cerebellar ataxia is a rare genetic neurological disease due to SPTBN2 mutations characterized by global development delay in infancy followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia mild to severe intellectual disability development of cerebellar atrophy and abnormal eye movements (including a convergent squint hypometric saccades jerky pursuit movements and incomplete range of movement).
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 September 2023.
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Spectrin-associated autosomal recessive cerebellar ataxia?
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