You are using an outdated browser. Please upgrade your browser to improve your experience.

spinocerebellar ataxia type 2

Disease Summary
Associated Targets (34)
Tbio

24

Tchem

7

Tclin

2

Tdark

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
Uniprot Description Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs.
Disease Ontology Description An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene.
Mondo Term and Equivalent IDs
MONDO:0008458:  spinocerebellar ataxia type 2
GARD:0004072: 
NCIT:C148315: 
Orphanet:98756: 
SCTID:715751004: 
UMLS:C0752121: