General Information of Disease (ID: DIS947AF)

Disease Name Autosomal dominant cerebellar ataxia type I
Synonyms ADCA1; autosomal dominant cerebellar ataxia type 1; cerebellar plus syndrome; ADCAI
Definition
Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.
Disease Hierarchy
DISYMHUK: Spinocerebellar ataxia
DIS947AF: Autosomal dominant cerebellar ataxia type I
Disease Identifiers
MONDO ID
MONDO_0019792
UMLS CUI
C5680259
MedGen ID
1842696
Orphanet ID
94145