Visualize Submit Comment
Metadata
ID DOID:0090044
Name dystonia 9
Definition A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.
https://www.ncbi.nlm.nih.gov/books/NBK1430/, https://www.ncbi.nlm.nih.gov/pubmed/30616884, https://www.omim.org/entry/601042
Xrefs

ICD10CM:G24.8

OMIM:601042

ORDO:53583

Parent Relationships

is_a dystonia

Add an item to the term tracker