/autosomal recessive spinocerebellar ataxia 14

autosomal recessive spinocerebellar ataxia 14

Rare Disease

MONDO:0014159

Also Known As

Ataxie spinocérébelleuse à début infantile avec retard psychomoteurSCAR14SPARCASPARCA1SPTBN2 autosomal recessive cerebellar ataxiaautosomal recessive cerebellar ataxia caused by mutation in SPTBN2autosomal recessive cerebellar ataxia-cognitive defect syndromeautosomal recessive spinocerebellar ataxia type 14infantile-onset spinocerebellar ataxia-psychomotor delay syndromespectrin-associated autosomal recessive cerebellar ataxia type 1spinocerebellar ataxia, autosomal recessive type 14cerebellar ataxia, autosomal recessive, spectrin-associated, 1spectrin-associated autosomal recessive cerebellar ataxiaspinocerebellar ataxia, autosomal recessive 14

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).