Primary dystonia, DYT6 type

General Information (adopted from Orphanet):

Synonyms, Signs: TORSION DYSTONIA, ADULT-ONSET, MIXED TYPE
DYT6
Idiopathic torsion dystonia of mixed type
Generalized cervical and upper-limb-onset dystonia
Number of Symptoms 18
OrphanetNr: 98806
OMIM Id: 602629
ICD-10: G24.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Generalized isolated dystonia
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000234) Abnormality of the head 4 / 7739
2
(HPO:0000473) Torticollis 42 / 7739
3
(HPO:0001304) Torsion dystonia 13 / 7739
4
(HPO:0002451) Limb dystonia 16 / 7739
5
(HPO:0001618) Dysphonia 28 / 7739
6
(HPO:0012048) Oromandibular dystonia 7 / 7739
7
(HPO:0002169) Clonus 37 / 7739
8
(HPO:0001260) Dysarthria 329 / 7739
9
(HPO:0001336) Myoclonus rare [HPO:skoehler] 115 / 7739
10
(HPO:0012049) Laryngeal dystonia 7 / 7739
11
(HPO:0002356) Writer's cramp 16 / 7739
12
(OMIM) Tongue dystonia 2 / 7739
13
(OMIM) Jaw dystonia 2 / 7739
14
(OMIM) Dystonia, upper and lower limbs 1 / 7739
15
(OMIM) Facial dystonia 6 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(OMIM) Dystonia, trunk and limbs (upper and lower) 1 / 7739
18
(HPO:0003829) Incomplete penetrance 60 % [HPO:skoehler] 85 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...

Clinical Description OMIM Almasy et al. (1997) performed clinical and genetic analyses of idiopathic torsion dystonia (ITD) in 2 Mennonite families that were not obviously related. Of 220 family members, a total of 15 definitely affected individuals were identified. Some affected ...
Molecular genetics OMIM In affected members of 3 Amish families with DYT6 (Almasy et al., 1997; Saunders-Pullman et al., 2007), Fuchs et al. (2009) identified a heterozygous truncating mutation in the THAP1 gene (609520.0001). An additional Amish family with the disorder ...