MCID: ERL030
MIFTS: 30

Early-Onset Generalized Limb-Onset Dystonia

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 60
Dystonia Musculorum Deformans 60 74
Early-Onset Generalized Torsion Dystonia 60
Dystonia 1, Torsion, Autosomal Dominant 74
Dystonia 3, Torsion, X-Linked 74
Early-Onset Torsion Dystonia 60
Early Onset Torsion Dystonia 74
Early-Onset Primary Dystonia 60
Idiopathic Torsion Dystonia 60
Idiopathic Dystonia 60
Oppenheim Dystonia 60
Dyt1 60
Eotd 60

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G24.1
UMLS via Orphanet 75 C0013423 C1851945 C3888090
Orphanet 60 ORPHA256
SNOMED-CT via HPO 70 22325002 41581000 56731001

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 dyt-tor1a, 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). The drug Mung bean has been mentioned in the context of this disorder. 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 46)
# Related Disease Score Top Affiliating Genes
1 dyt1 early-onset isolated dystonia 12.3
2 dyt-tor1a 12.2
3 dystonia 1, torsion, autosomal dominant 11.9
4 dystonia 2, torsion, autosomal recessive 11.7
5 dystonia 4, torsion, autosomal dominant 11.6
6 dystonia 3, torsion, x-linked 11.6
7 dyt-tubb4a 11.4
8 dyt-thap1 11.4
9 dystonia 7, torsion 11.4
10 dystonia 11.1
11 dystonia 6, torsion 10.3
12 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
13 basal ganglia calcification 10.3
14 movement disease 10.3
15 primary familial brain calcification 10.3
16 piriformis syndrome 10.3
17 talipes equinovarus 10.3
18 dystonia 12 10.3
19 tremor 10.2
20 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
21 focal dystonia 10.1
22 bowenoid papulosis 10.1
23 carpal tunnel syndrome 10.0
24 dyschromatosis symmetrica hereditaria 10.0
25 schizophrenia 10.0
26 graves disease 1 10.0
27 mononeuropathy of the median nerve, mild 10.0
28 dystonia 25 10.0
29 dyschromatosis universalis hereditaria 3 10.0
30 oromandibular dystonia 10.0
31 essential tremor 10.0
32 dystonia 11, myoclonic 10.0
33 obsessive-compulsive disorder 10.0
34 parkinson disease, late-onset 10.0
35 torticollis 10.0
36 muscle hypertrophy 10.0
37 cerebral palsy 10.0
38 cervical dystonia 10.0
39 focal hand dystonia 10.0
40 blepharospasm 10.0
41 muscular dystrophy 10.0
42 hereditary dystonia 10.0
43 depression 10.0
44 myoclonus 10.0
45 chorea, benign hereditary 9.8
46 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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
2 hypertonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001276
3 abnormality of the voice 60 33 frequent (33%) Frequent (79-30%) HP:0001608
4 abnormality of movement 60 Very frequent (99-80%)
5 abnormality of the musculature 60 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

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 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:

42
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
Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (dystonia musculorum deformans). ( 2456673 )
1988
8
Dystonia musculorum deformans: three cases treated on a rehabilitation unit. ( 2966619 )
1988
9
Orthotic technique for dystonia musculorum deformans. ( 3178457 )
1988
10
Rehabilitation of communication impairment in dystonia musculorum deformans. ( 2977281 )
1987
11
Brain neurotransmitters in dystonia musculorum deformans. ( 2426591 )
1986
12
Dystonia musculorum deformans in pregnancy. ( 3468383 )
1986
13
Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans. ( 6470761 )
1984
14
Anesthetic management of a patient with dystonia musculorum deformans. ( 6731882 )
1984
15
Characteristic alterations in responses to imposed wrist displacements in parkinsonian rigidity and dystonia musculorum deformans. ( 6234055 )
1984
16
Treatment of dystonia musculorum deformans. ( 6694320 )
1984
17
Polysomnographic findings in dystonia musculorum deformans. ( 6622883 )
1983
18
Dystonia musculorum deformans with hyperuricaemia - study of a family. ( 6282513 )
1982
19
Dystonia musculorum deformans: implications of therapeutic response to levodopa and carbamazepine. ( 7092616 )
1982
20
Catechol-O-methyltransferase activity in cultured human skin fibroblasts from controls and patients with dystonia musculorum deformans. ( 7299845 )
1981
21
Polygraphic analysis of sleep in dystonia musculorum deformans. ( 227178 )
1979
22
MMPI characteristics associated with cerebral palsy and dystonia musculorum deformans. ( 482013 )
1979
23
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of defendant's expert (a neurosurgeon)--part II. ( 600061 )
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
Long-term review of dentatectomy in dystonia musculorum deformans and cerebral palsy. ( 920302 )
1977
26
Dystonia musculorum deformans--a status report. ( 23190 )
1976
27
Psychological studies in dystonia musculorum deformans. ( 941772 )
1976
28
20-year followup study of the neurosurgical treatment of dystonia musculorum deformans. ( 941783 )
1976
29
Dystonia musculorum deformans: a case study. ( 993556 )
1976
30
Anesthetic management of a patient with dystonia musculorum deformans. ( 1130730 )
1975
31
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. ( 4448193 )
1974
32
Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. ( 4474046 )
1974
33
Levodopa in dystonia musculorum deformans. ( 4119748 )
1973
34
Apomorphine in dystonia musculorum deformans. ( 4119749 )
1973
35
Levodopa in dystonia musculorum deformans. ( 4122025 )
1973
36
Familial dystonia musculorum deformans and tremor. ( 5037440 )
1972
37
Idiopathic dystonia musculorum deformans and paroxysmal nodal tachycardia. ( 5280884 )
1971
38
Dystonia musculorum deformans. Analysis with electromyography. ( 5566110 )
1971
39
Pathology of the torsion dystonias (dystonia musculorum deformans). ( 5529477 )
1970
40
Increased intelligence in recessively inherited torsion dystonia (dystonia musculorum deformans). ( 5535063 )
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
A psychiatric study of two patients with dystonia musculorum deformans. ( 5910628 )
1966
46
Dystonia musculorum deformans. A genetic and clinical population study of 121 cases. ( 5939189 )
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: neurosurgical treatment, rehabilitation and follow-up. ( 14022841 )
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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