Spectrin-associated autosomal recessive cerebellar ataxia

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Name:
Spectrin-associated autosomal recessive cerebellar ataxia
Description:
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).
ORPHAcode:
352403
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
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14