Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome


Engelsk navn: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Engelske synonym: Autosomal recessive spinocerebellar ataxia type 3,Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome,SCABD,SCAR3


A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.

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Informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.

ORPHA: 95433
Klassifiseringsnivå: Disorder
ICD-10: G11.1



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