DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: EARLY-ONSET TORSION DYSTONIA
DYSTONIA MUSCULORUM DEFORMANS 1
DYT1
EOTD
Number of Symptoms 19
OrphanetNr:
OMIM Id: 128100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000473) Torticollis 42 / 7739
2
(HPO:0000643) Blepharospasm 20 / 7739
3
(HPO:0001337) Tremor 200 / 7739
4
(HPO:0001276) Hypertonia 317 / 7739
5
(HPO:0001260) Dysarthria 329 / 7739
6
(HPO:0000716) Depression 99 / 7739
7
(HPO:0004373) Focal dystonia 9 / 7739
8
(HPO:0002356) Writer's cramp 16 / 7739
9
(HPO:0001304) Torsion dystonia 13 / 7739
10
(HPO:0002808) Kyphosis 289 / 7739
11
(HPO:0003307) Hyperlordosis 122 / 7739
12
(HPO:0002650) Scoliosis 705 / 7739
13
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
14
(HPO:0001324) Muscle weakness 859 / 7739
15
(HPO:0010547) Muscle flaccidity 466 / 7739
16
(HPO:0001252) Muscular hypotonia 990 / 7739
17
(OMIM) Isolated focal dystonia may occur 1 / 7739
18
(OMIM) Begins in limbs, later generalized (childhood onset) 1 / 7739
19
(OMIM) Facial grimace 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia ...
Clinical Description OMIM Primary torsion dystonia (also known as 'idiopathic' torsion dystonia; ITD) usually begins in childhood or adolescence with involuntary posturing of the trunk, neck, or limbs (Marsden et al., 1976; Nemeth, 2002). Some patients have a myostatic picture, such ...
Genotype-Phenotype Correlations OMIM Among 147 DYT1 deletion (605204.0001) carriers and 113 blood-related noncarriers from 43 families, Bressman et al. (2002) assessed the validity of the diagnostic categories of 'definite,' 'probable,' and 'possible' dystonia often used in genetic research studies. The category ...
Molecular genetics OMIM Ozelius et al. (1997) identified a 3-bp deletion in the DYT1 gene (605204.0001) in all affected and obligate carrier individuals with chromosome 9-linked primary dystonia, regardless of ethnic background and surrounding haplotype.

- Modifier Alleles ...

Population genetics OMIM Zilber et al. (1984) found that the frequency of the disease in European Jews was about 1:23,000 live births or about 5 times greater than in Jews of Afro-Asian origin. Risch et al. (1989), (1990) reported a high ...