MCID: DYS068
MIFTS: 23

Dystonia 7, Torsion

Categories: Muscle diseases, Neuronal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Dystonia 7, Torsion

MalaCards integrated aliases for Dystonia 7, Torsion:

Name: Dystonia 7, Torsion 57 73
Torsion Dystonia, Focal Adult-Onset 57
Dystonia, Type 7, Torsion 40
Dystonia-7, Torsion 57
Torsion Dystonia 7 12
Dyt7 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
age of onset 28 to 70 years
symptoms remain focal


HPO:

32
dystonia 7, torsion:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 602124
Disease Ontology 12 DOID:0090040
MedGen 42 C1865818
UMLS 73 C1865818

Summaries for Dystonia 7, Torsion

OMIM : 57 Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneous group of movement disorders characterized by sustained dystonic muscle contractions causing involuntary twisting movements and/or postures, where causes such as cerebral lesions (especially of the basal ganglia), drugs, or other neurologic disorders have not been found. Adult-onset torsion dystonia usually remains focal and is localized in the upper part of the body (summary by Leube et al., 1996). (602124)

MalaCards based summary : Dystonia 7, Torsion, also known as torsion dystonia, focal adult-onset, is related to dystonia and cervical dystonia, and has symptoms including dystonia, torticollis and tremor. An important gene associated with Dystonia 7, Torsion is DYT7 (Dystonia 7, Torsion (Autosomal Dominant)). Affiliated tissues include skeletal muscle, and related phenotypes are torticollis and blepharospasm

Disease Ontology : 12 A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p.

Related Diseases for Dystonia 7, Torsion

Symptoms & Phenotypes for Dystonia 7, Torsion

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor
dysphonia
clumsiness
torsion dystonia
cranial dystonia
more
Head And Neck Mouth:
oromandibular dystonia

Muscle Soft Tissue:
hypertrophic muscles

Head And Neck Eyes:
blepharospasm

Head And Neck Neck:
torticollis


Clinical features from OMIM:

602124

Human phenotypes related to Dystonia 7, Torsion:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 torticollis 32 HP:0000473
2 blepharospasm 32 HP:0000643
3 torsion dystonia 32 HP:0001304
4 dysphonia 32 HP:0001618
5 clumsiness 32 HP:0002312
6 writer's cramp 32 HP:0002356
7 hand tremor 32 HP:0002378
8 skeletal muscle hypertrophy 32 HP:0003712
9 oromandibular dystonia 32 HP:0012048

UMLS symptoms related to Dystonia 7, Torsion:


dystonia, torticollis, tremor, clumsiness

Drugs & Therapeutics for Dystonia 7, Torsion

Search Clinical Trials , NIH Clinical Center for Dystonia 7, Torsion

Genetic Tests for Dystonia 7, Torsion

Anatomical Context for Dystonia 7, Torsion

MalaCards organs/tissues related to Dystonia 7, Torsion:

41
Skeletal Muscle

Publications for Dystonia 7, Torsion

Variations for Dystonia 7, Torsion

Expression for Dystonia 7, Torsion

Search GEO for disease gene expression data for Dystonia 7, Torsion.

Pathways for Dystonia 7, Torsion

GO Terms for Dystonia 7, Torsion

Sources for Dystonia 7, Torsion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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