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
Definisjon
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.
Fra Orphanet
ORPHA: 95433
Klassifiseringsnivå: Disorder
ICD-10: G11.1