MCID: DYS019
MIFTS: 35

Dystonia Musculorum Deformans malady

Muscle diseases category

Summaries for Dystonia Musculorum Deformans

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32MalaCards
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MalaCards: Dystonia Musculorum Deformans, also known as dystonia lenticularis, is related to familial dystonia and torsion dystonia. An important gene associated with Dystonia Musculorum Deformans is THAP1 (THAP domain containing, apoptosis associated protein 1). The compounds l-amino acid and mptp have been mentioned in the context of this disorder. Affiliated tissues include brain and skin.

Aliases & Classifications for Dystonia Musculorum Deformans

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8Disease Ontology, 10DISEASES, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 27ICD9CM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle diseases


Aliases & Descriptions:

dystonia musculorum deformans 8 10 60
dystonia lenticularis 8 60
dystonia, deformans progressiva 8
dystonia deformans progressiva 8
idiopathic torsion dystonia 8


External Ids:

Disease Ontology8 DOID:11910
NCIt39 C34564
MeSH34 D004422
ICD9CM27 333.6

Related Diseases for Dystonia Musculorum Deformans

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Dystonia Musculorum Deformans:



Diseases related to dystonia musculorum deformans

Clinical Features for Dystonia Musculorum Deformans

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Drugs & Therapeutics for Dystonia Musculorum Deformans

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dystonia Musculorum Deformans

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Anatomical Context for Dystonia Musculorum Deformans

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32MalaCards
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MalaCards organs/tissues related to Dystonia Musculorum Deformans:

32
Brain, Skin

Animal Models for Dystonia Musculorum Deformans or affiliated genes

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Publications for Dystonia Musculorum Deformans

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50PubMed
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Articles related to Dystonia Musculorum Deformans:

(show top 50)    (show all 62)
idTitleAuthorsYear
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
Dystonia musculorum deformans: a 'critical phenomenon' model involving nigral dopaminergic and caudate pathways. (2179685)
1990
6
Bilateral piriformis syndrome associated with dystonia musculorum deformans. (2315224)
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
Dystonia musculorum deformans in pregnancy. (3468383)
1986
12
Brain neurotransmitters in dystonia musculorum deformans. (2426591)
1986
13
Anesthetic management of a patient with dystonia musculorum deformans. (6731882)
1984
14
Polysomnographic findings in dystonia musculorum deformans. (6622883)
1983
15
Dystonia musculorum deformans with hyperuricaemia - study of a family. (6282513)
1982
16
Dystonia musculorum deformans: implications of therapeutic response to levodopa and carbamazepine. (7092616)
1982
17
Catechol-O-methyltransferase activity in cultured human skin fibroblasts from controls and patients with dystonia musculorum deformans. (7299845)
1981
18
Polygraphic analysis of sleep in dystonia musculorum deformans. (227178)
1979
19
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of plaintiff's expert (a neurosurgeon)--part I. (916869)
1977
20
Long-term review of dentatectomy in dystonia musculorum deformans and cerebral palsy. (920302)
1977
21
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of defendant's expert (a neurosurgeon)--part II. (600061)
1977
22
Psychological studies in dystonia musculorum deformans. (941772)
1976
23
20-year followup study of the neurosurgical treatment of dystonia musculorum deformans. (941783)
1976
24
Dystonia musculorum deformans--a status report. (23190)
1976
25
Anesthetic management of a patient with dystonia musculorum deformans. (1130730)
1975
26
Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. (4474046)
1974
27
Apomorphine in dystonia musculorum deformans. (4119749)
1973
28
Idiopathic dystonia musculorum deformans and paroxysmal nodal tachycardia. (5280884)
1971
29
Dystonia musculorum deformans. Analysis with electromyography. (5566110)
1971
30
Pathology of the torsion dystonias (dystonia musculorum deformans). (5529477)
1970
31
Increased intelligence in recessively inherited torsion dystonia (dystonia musculorum deformans). (5535063)
1970
32
Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies. (6050693)
1967
33
A psychiatric study of two patients with dystonia musculorum deformans. (5910628)
1966
34
Dystonia musculorum deformans. A genetic and clinical population study of 121 cases. (5939189)
1966
35
DYSTONIA MUSCULORUM DEFORMANS PROGRESSIVA. EXPERIENCE WITH DIAZEPAM. (14070940)
1963
36
A CASE OF DYSTONIA MUSCULORUM DEFORMANS. KINEMATOGRAPHIC DEMONSTRATION OF VARIOUS PHASES OF DEVELOPMENT SINCE 1928. (14059912)
1963
37
Dystonia musculorum deformans: neurosurgical treatment, rehabilitation and follow-up. (14022841)
1962
38
Studies on dystonia musculorum deformans. (13957880)
1962
39
Dystonia musculorum deformans. (14450922)
1962
40
Treatment of dystonia musculorum deformans progressiva. (13735241)
1961
41
Dystonia musculorum deformans alleviated by chemopallidothalamectomy and substantia nigralysis. Case report. (13739435)
1960
42
Idiopathic dystonia musculorum deformans. II. The formes frustes. (13788192)
1960
43
Dystonia musculorum deformans presenting as spasmodic torticolis. (13697597)
1960
44
Alleviation of dystonia musculorum deformans and other involuntary movement disorders of childhood by chemopallidectomy and chemopallido-thalamectomy. (13597141)
1957-1958
45
Chemopallidectomy for dystonia musculorum deformans. (13385097)
1956
46
The surgical treatment of dystonia musculorum deformans. (13097210)
1953
47
Dystonia musculorum deformans. (12978961)
1952
48
Dystonia musculorum deformans in siblings; treated with artane (trihexyphenidyl). (14957878)
1952
49
Dystonia musculorum deformans, with report of a case in a child. (14779577)
1950
50
Dystonia musculorum deformans with another case in the same family. (20344681)
1947

Genetic Variations for Dystonia Musculorum Deformans

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Expression for genes affiliated with Dystonia Musculorum Deformans

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dystonia Musculorum Deformans

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Pathways for genes affiliated with Dystonia Musculorum Deformans

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Compounds for genes affiliated with Dystonia Musculorum Deformans

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Dystonia Musculorum Deformans according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-amino acid449.2GCH1, DBH
2mptp449.1DBH, GCH1
3levodopa44 1110.0DBH, GCH1
4gtp44 289.7GCH1, TOR1A, ASS1
5tetrahydrobiopterin44 11 2410.7GCH1, DBH, ASS1
6adenylate448.6DBH, ASS1, AK1
7nadph44 249.5ASS1, DBH, GCH1
8dopamine44 28 11 2411.5TOR1A, GCH1, DBH

GO Terms for genes affiliated with Dystonia Musculorum Deformans

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16Gene Ontology
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Biological processes related to Dystonia Musculorum Deformans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1visual learningGO:0085429.4DBH, ATP1A3
2memoryGO:0076139.2DBH, ATP1A3
3response to painGO:0482659.0GCH1, DBH
4small molecule metabolic processGO:0442818.1ASS1, AK1, GCH1, DBH

Products for genes affiliated with Dystonia Musculorum Deformans

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  • Antibodies
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Sources for Dystonia Musculorum Deformans

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet