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.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 95433
Klassifiseringsnivå: DisorderICD-10: G11.1