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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

MIM:601042

ORDO:53583

UMLS_CUI:C1832855

Subsets

DO_rare_slim

Synonyms

paroxysmal choreoathetosis with spasticity [EXACT]

Parent Relationships

is_a dystonia

is_a glucose transporter type 1 deficiency syndrome

is_a autosomal dominant disease

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