Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

Orpha code: 95433OMIM code: 271250

Definition

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.

Disease data
Classification

Disease

Synonyms
Autosomal recessive spinocerebellar ataxia type 3
SCAR3
Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
SCABD
SCAR3
ORPHA code
95433
OMIM code
271250
ICD10 code
G11.1
ICD11 code
-

No additional description.

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