MCID: ERL030
MIFTS: 29

Early-Onset Generalized Limb-Onset Dystonia

Categories: Neuronal diseases, Rare diseases, Muscle 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 dystonia, myoclonus and torticollis. An important gene associated with Early-Onset Generalized Limb-Onset Dystonia is TOR1A (Torsin Family 1 Member A). The drug Mung bean has been mentioned in the context of this disorder. Affiliated tissues include brain and skin, and related phenotypes are hypertonia and gait disturbance

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 21)
# Related Disease Score Top Affiliating Genes
1 dyt1 early-onset isolated dystonia 12.1
2 dystonia 12 12.0
3 early-onset generalized dystonia 11.7
4 dystonia 1, torsion, autosomal dominant 11.6
5 dystonia 10.8
6 neuronitis 9.9
7 tremor 9.9
8 focal dystonia 9.9
9 cervicitis 9.8
10 cerebritis 9.8
11 blepharospasm 9.8
12 muscular dystrophy 9.8
13 hereditary dystonia 9.8
14 obsessive-compulsive disorder 9.8
15 parkinson disease, late-onset 9.8
16 depression 9.8
17 torticollis 9.8
18 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.8
19 cerebral palsy 9.8
20 cervical dystonia 9.8
21 focal hand dystonia 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 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
2 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
3 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
4 abnormality of the musculature 59 Very frequent (99-80%)
5 abnormality of movement 59 Very frequent (99-80%)

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


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

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

Drugs for Early-Onset Generalized Limb-Onset Dystonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mung bean Approved, Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
2 MINGO Supplemental Trial in X-linked Dystonia-Parkinsonism Patients Completed NCT03019458 Not Applicable

Search 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

Publications for Early-Onset Generalized Limb-Onset Dystonia

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

(show top 50) (show all 62)
# 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
Levodopa in dystonia musculorum deformans. ( 4122025 )
1973
33
Apomorphine in dystonia musculorum deformans. ( 4119749 )
1973
34
Familial dystonia musculorum deformans and tremor. ( 5037440 )
1972
35
Dystonia musculorum deformans. Analysis with electromyography. ( 5566110 )
1971
36
Idiopathic dystonia musculorum deformans and paroxysmal nodal tachycardia. ( 5280884 )
1971
37
Increased intelligence in recessively inherited torsion dystonia (dystonia musculorum deformans). ( 5535063 )
1970
38
Pathology of the torsion dystonias (dystonia musculorum deformans). ( 5529477 )
1970
39
The hereditary torsion dystonias (dystonia musculorum deformans): Geographical distribution and IQ in dominant and recessive forms. ( 5374449 )
1969
40
Dystonia musculorum deformans: natural history and neurosurgical alleviation. ( 5767348 )
1969
41
Dystonia musculorum deformans: evidence for hereditary forms. ( 5690364 )
1968
42
Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies. ( 6050693 )
1967
43
Dystonia musculorum deformans. A genetic and clinical population study of 121 cases. ( 5939189 )
1966
44
A psychiatric study of two patients with dystonia musculorum deformans. ( 5910628 )
1966
45
A CASE OF DYSTONIA MUSCULORUM DEFORMANS. KINEMATOGRAPHIC DEMONSTRATION OF VARIOUS PHASES OF DEVELOPMENT SINCE 1928. ( 14059912 )
1963
46
DYSTONIA MUSCULORUM DEFORMANS PROGRESSIVA. EXPERIENCE WITH DIAZEPAM. ( 14070940 )
1963
47
Studies on dystonia musculorum deformans. ( 13957880 )
1962
48
Dystonia musculorum deformans. ( 14450922 )
1962
49
Dystonia musculorum deformans: neurosurgical treatment, rehabilitation and follow-up. ( 14022841 )
1962
50
Treatment of dystonia musculorum deformans progressiva. ( 13735241 )
1961

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
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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