DYT6
MCID: DYS067
MIFTS: 37
|
Dystonia 6, Torsion (DYT6)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
|
|
MalaCards integrated aliases for Dystonia 6, Torsion:
Characteristics:Orphanet epidemiological data:58
primary dystonia, dyt6 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
variable distribution, may be focal, segmental, multifocal, or generalized average age at onset 19 years (range 5 to 38) often presents with cranial or cervical involvement reduced penetrance (about 60%) HPO:31
dystonia 6, torsion:
Inheritance autosomal dominant inheritance Onset and clinical course incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
32
33
Orphanet: 58
![]() |
UniProtKB/Swiss-Prot :
73
Dystonia 6, torsion: 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.
MalaCards based summary : Dystonia 6, Torsion, also known as torsion dystonia 6, is related to isolated dystonia and dystonia 3, torsion, x-linked, and has symptoms including torticollis and lingual dystonia. An important gene associated with Dystonia 6, Torsion is THAP1 (THAP Domain Containing 1). Affiliated tissues include tongue, and related phenotypes are generalized dystonia and dysarthria Disease Ontology : 12 A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has material basis in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. OMIM : 56 Dystonia-6 is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009). Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene. (602629) |
Human phenotypes related to Dystonia 6, Torsion:58 31 (show all 15)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:602629UMLS symptoms related to Dystonia 6, Torsion:torticollis, lingual dystonia |
Interventional clinical trials:
|
MalaCards organs/tissues related to Dystonia 6, Torsion:40
Tongue
|
Articles related to Dystonia 6, Torsion:(show all 16)
|
ClinVar genetic disease variations for Dystonia 6, Torsion:6 (show top 50) (show all 80)
UniProtKB/Swiss-Prot genetic disease variations for Dystonia 6, Torsion:73 (show all 45)
|
Search
GEO
for disease gene expression data for Dystonia 6, Torsion.
|
|
|