spinocerebellar ataxia type 1

Term ID

DOID:0050954

Synonyms

Definition

An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1

References

• GARD:4071
• OMIM:164400

Ontology

Human Disease   ( DOID:0050954 )