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Spectrin-associated autosomal recessive cerebellar ataxia
Disease definition
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).
ORPHA:352403
Classification level: Disorder- Synonym(s):
- Ataxie spinocérébelleuse à début infantile avec retard psychomoteur
- Autosomal recessive spinocerebellar ataxia type 14
- Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
- SCAR14
- SPARCA
- SPARCA1
- Spectrin-associated autosomal recessive cerebellar ataxia type 1
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy
- ICD-10: G11.1
- OMIM: 615386
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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