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Spinocerebellar Ataxia Type 1 (MONDO:0008119)

Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0008119

Internal:9434

Synonyms

ATXN1 autosomal dominant cerebellar ataxia type I

SCA1

Sca1

autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1

spinocerebellar ataxia type 1

Menzel type OPCA

OPCA 1

OPCA 4

OPCA1

OPCA4

Schut-haymaker type OPCA

cerebelloparenchymal disorder 1

olivopontocerebellar atrophy 1

olivopontocerebellar atrophy 4

spinocerebellar ataxia 1

spinocerebellar atrophy 1

Mapped terms

DOID:0050954

GARD:0004071

MEDGEN:155703

NANDO:1200045

NCIT:C129982

OMIM:164400

Orphanet:98755

SCTID:715748006

UMLS:C0752120

icd11.foundation:2071487961

Child terms

Unknown children.

Results

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