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torsion dystonia 6

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.
Uniprot Description A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.
Disease Ontology Description A characterized by autosomal dominant inheritance of early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in heterozygous mutation in the THAP1 gene on chromosome 8p11.
Mondo Term and Equivalent IDs
MONDO:0011264:  torsion dystonia 6
GARD:0009630: 
MESH:C538003: 
Orphanet:98806: 
SCTID:702448007: 
UMLS:C1414216: