DYT1
MCID: ERL030
MIFTS: 33

Early-Onset Generalized Limb-Onset Dystonia (DYT1)

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Early-Onset Generalized Limb-Onset Dystonia

MalaCards integrated aliases for Early-Onset Generalized Limb-Onset Dystonia:

Name: Early-Onset Generalized Limb-Onset Dystonia 59
Dystonia Musculorum Deformans 59 73
Early-Onset Generalized Torsion Dystonia 59
Dystonia 1, Torsion, Autosomal Dominant 73
Dystonia 3, Torsion, X-Linked 73
Early-Onset Torsion Dystonia 59
Early Onset Torsion Dystonia 73
Early-Onset Primary Dystonia 59
Idiopathic Torsion Dystonia 59
Idiopathic Dystonia 59
Oppenheim Dystonia 59
Dyt1 59
Eotd 59

Characteristics:

Orphanet epidemiological data:

59
early-onset generalized limb-onset dystonia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United States),1-9/1000000 (Europe),1-9/100000 (United States); Age of onset: Adolescent,Adult,Childhood; Age of death: any age;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA256
UMLS via Orphanet 74 C1851945 C3888090 C0013423
ICD10 via Orphanet 34 G24.1
SNOMED-CT via HPO 69 41581000 56731001 22325002

Summaries for Early-Onset Generalized Limb-Onset Dystonia

MalaCards based summary : Early-Onset Generalized Limb-Onset Dystonia, also known as dystonia musculorum deformans, is related to dyt1 early-onset isolated dystonia and dystonia 12, and has symptoms including tremor, myoclonus and dystonia. An important gene associated with Early-Onset Generalized Limb-Onset Dystonia is TOR1A (Torsin Family 1 Member A). Affiliated tissues include brain, skin and bone, and related phenotypes are gait disturbance and hypertonia

Related Diseases for Early-Onset Generalized Limb-Onset Dystonia

Diseases related to Early-Onset Generalized Limb-Onset Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 dyt1 early-onset isolated dystonia 12.2
2 dystonia 12 12.1
3 early-onset generalized dystonia 11.9
4 dystonia 1, torsion, autosomal dominant 11.8
5 dystonia 4, torsion, autosomal dominant 11.7
6 dystonia 2, torsion, autosomal recessive 11.7
7 dystonia 3, torsion, x-linked 11.6
8 adolescent-onset dystonia of mixed type 11.3
9 dystonia 7, torsion 11.3
10 dystonia 11.0
11 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
12 movement disease 10.3
13 piriformis syndrome 10.3
14 talipes equinovarus 10.3
15 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
16 focal dystonia 10.1
17 tremor 10.1
18 carpal tunnel syndrome 10.0
19 dyschromatosis symmetrica hereditaria 10.0
20 schizophrenia 10.0
21 mononeuropathy of the median nerve, mild 10.0
22 dyschromatosis universalis hereditaria 3 10.0
23 oromandibular dystonia 10.0
24 essential tremor 10.0
25 obsessive-compulsive disorder 9.9
26 parkinson disease, late-onset 9.9
27 torticollis 9.9
28 dystonia 6, torsion 9.9
29 muscle hypertrophy 9.9
30 cerebral palsy 9.9
31 cervical dystonia 9.9
32 focal hand dystonia 9.9
33 blepharospasm 9.9
34 muscular dystrophy 9.9
35 hereditary dystonia 9.9
36 depression 9.9
37 myoclonus 9.9
38 chorea, benign hereditary 9.8
39 choreatic disease 9.8

Comorbidity relations with Early-Onset Generalized Limb-Onset Dystonia via Phenotypic Disease Network (PDN):


Acute Cystitis Parkinson Disease, Late-Onset

Graphical network of the top 20 diseases related to Early-Onset Generalized Limb-Onset Dystonia:



Diseases related to Early-Onset Generalized Limb-Onset Dystonia

Symptoms & Phenotypes for Early-Onset Generalized Limb-Onset Dystonia

Human phenotypes related to Early-Onset Generalized Limb-Onset Dystonia:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
2 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
3 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
4 abnormality of movement 59 Very frequent (99-80%)
5 abnormality of the musculature 59 Very frequent (99-80%)

UMLS symptoms related to Early-Onset Generalized Limb-Onset Dystonia:


tremor, myoclonus, dystonia, torticollis, dystonia, paroxysmal, dystonia, limb

Drugs & Therapeutics for Early-Onset Generalized Limb-Onset Dystonia

Search Clinical Trials , NIH Clinical Center for Early-Onset Generalized Limb-Onset Dystonia

Genetic Tests for Early-Onset Generalized Limb-Onset Dystonia

Anatomical Context for Early-Onset Generalized Limb-Onset Dystonia

MalaCards organs/tissues related to Early-Onset Generalized Limb-Onset Dystonia:

41
Brain, Skin, Bone

Publications for Early-Onset Generalized Limb-Onset Dystonia

Articles related to Early-Onset Generalized Limb-Onset Dystonia:

(show top 50) (show all 64)
# Title Authors Year
1
Fat embolism syndrome in a child with dystonia musculorum deformans. ( 22604515 )
2012
2
Spinal lordosis with marked opisthotonus secondary to dystonia musculorum deformans: case report with surgical management. ( 11598522 )
2001
3
Simultaneous bilateral pallidoansotomy for idiopathic dystonia musculorum deformans. ( 8703227 )
1996
4
Relationship between acquired spastic talipes equinovarus and dystonia musculorum deformans. ( 8416347 )
1993
5
Bilateral piriformis syndrome associated with dystonia musculorum deformans. ( 2315224 )
1990
6
Dystonia musculorum deformans: a 'critical phenomenon' model involving nigral dopaminergic and caudate pathways. ( 2179685 )
1990
7
Dystonia musculorum deformans: three cases treated on a rehabilitation unit. ( 2966619 )
1988
8
Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (dystonia musculorum deformans). ( 2456673 )
1988
9
Orthotic technique for dystonia musculorum deformans. ( 3178457 )
1988
10
Rehabilitation of communication impairment in dystonia musculorum deformans. ( 2977281 )
1987
11
Dystonia musculorum deformans in pregnancy. ( 3468383 )
1986
12
Brain neurotransmitters in dystonia musculorum deformans. ( 2426591 )
1986
13
Characteristic alterations in responses to imposed wrist displacements in parkinsonian rigidity and dystonia musculorum deformans. ( 6234055 )
1984
14
Anesthetic management of a patient with dystonia musculorum deformans. ( 6731882 )
1984
15
Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans. ( 6470761 )
1984
16
Treatment of dystonia musculorum deformans. ( 6694320 )
1984
17
Polysomnographic findings in dystonia musculorum deformans. ( 6622883 )
1983
18
Dystonia musculorum deformans: implications of therapeutic response to levodopa and carbamazepine. ( 7092616 )
1982
19
Dystonia musculorum deformans with hyperuricaemia - study of a family. ( 6282513 )
1982
20
Catechol-O-methyltransferase activity in cultured human skin fibroblasts from controls and patients with dystonia musculorum deformans. ( 7299845 )
1981
21
MMPI characteristics associated with cerebral palsy and dystonia musculorum deformans. ( 482013 )
1979
22
Polygraphic analysis of sleep in dystonia musculorum deformans. ( 227178 )
1979
23
Long-term review of dentatectomy in dystonia musculorum deformans and cerebral palsy. ( 920302 )
1977
24
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of plaintiff's expert (a neurosurgeon)--part I. ( 916869 )
1977
25
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of defendant's expert (a neurosurgeon)--part II. ( 600061 )
1977
26
Dystonia musculorum deformans: a case study. ( 993556 )
1976
27
20-year followup study of the neurosurgical treatment of dystonia musculorum deformans. ( 941783 )
1976
28
Psychological studies in dystonia musculorum deformans. ( 941772 )
1976
29
Dystonia musculorum deformans--a status report. ( 23190 )
1976
30
Anesthetic management of a patient with dystonia musculorum deformans. ( 1130730 )
1975
31
Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. ( 4474046 )
1974
32
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. ( 4448193 )
1974
33
Levodopa in dystonia musculorum deformans. ( 4122025 )
1973
34
Apomorphine in dystonia musculorum deformans. ( 4119749 )
1973
35
Levodopa in dystonia musculorum deformans. ( 4119748 )
1973
36
Familial dystonia musculorum deformans and tremor. ( 5037440 )
1972
37
Dystonia musculorum deformans. Analysis with electromyography. ( 5566110 )
1971
38
Idiopathic dystonia musculorum deformans and paroxysmal nodal tachycardia. ( 5280884 )
1971
39
Increased intelligence in recessively inherited torsion dystonia (dystonia musculorum deformans). ( 5535063 )
1970
40
Pathology of the torsion dystonias (dystonia musculorum deformans). ( 5529477 )
1970
41
The hereditary torsion dystonias (dystonia musculorum deformans): Geographical distribution and IQ in dominant and recessive forms. ( 5374449 )
1969
42
Dystonia musculorum deformans: natural history and neurosurgical alleviation. ( 5767348 )
1969
43
Dystonia musculorum deformans: evidence for hereditary forms. ( 5690364 )
1968
44
Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies. ( 6050693 )
1967
45
Dystonia musculorum deformans. A genetic and clinical population study of 121 cases. ( 5939189 )
1966
46
A psychiatric study of two patients with dystonia musculorum deformans. ( 5910628 )
1966
47
A CASE OF DYSTONIA MUSCULORUM DEFORMANS. KINEMATOGRAPHIC DEMONSTRATION OF VARIOUS PHASES OF DEVELOPMENT SINCE 1928. ( 14059912 )
1963
48
DYSTONIA MUSCULORUM DEFORMANS PROGRESSIVA. EXPERIENCE WITH DIAZEPAM. ( 14070940 )
1963
49
Studies on dystonia musculorum deformans. ( 13957880 )
1962
50
Dystonia musculorum deformans. ( 14450922 )
1962

Variations for Early-Onset Generalized Limb-Onset Dystonia

Expression for Early-Onset Generalized Limb-Onset Dystonia

Search GEO for disease gene expression data for Early-Onset Generalized Limb-Onset Dystonia.

Pathways for Early-Onset Generalized Limb-Onset Dystonia

GO Terms for Early-Onset Generalized Limb-Onset Dystonia

Sources for Early-Onset Generalized Limb-Onset Dystonia

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
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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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