Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Synonyms: Autosomal recessive spinocerebellar ataxia type 6 | SCAR6
A rare genetic autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia with onset in infancy manifesting with delayed motor and speech development gait ataxia dysmetria hypotonia increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze mild spasticity intention tremor short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.
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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Infantile-onset autosomal recessive nonprogressive cerebellar ataxia?
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