MCID: DYS019
MIFTS: 32

Dystonia Musculorum Deformans malady

Summaries for Dystonia Musculorum Deformans

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33MalaCards
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MalaCards: Dystonia Musculorum Deformans, also known as dystonia lenticularis, is related to torsion dystonia and blepharospasm. 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.

Aliases & Classifications for Dystonia Musculorum Deformans

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 27ICD9CM
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Aliases & Descriptions:

dystonia musculorum deformans 8 10 61
dystonia lenticularis 8 61
dystonia, deformans progressiva 8
dystonia deformans progressiva 8
idiopathic torsion dystonia 8


External Ids:

Disease Ontology8 DOID:11910
NCIt40 C34564
MeSH35 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

Drugs & Therapeutics for Dystonia Musculorum Deformans

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5CenterWatch, 42NIH 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

Anatomical Context for Dystonia Musculorum Deformans

Animal Models for Dystonia Musculorum Deformans or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Dystonia Musculorum Deformans

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51PubMed
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Articles related to Dystonia Musculorum Deformans:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Fat embolism syndrome in a child with dystonia musculorum deformans. (22604515)
2012
2
Relationship between acquired spastic talipes equinovarus and dystonia musculorum deformans. (8416347)
1993
3
Dystonia musculorum deformans: a 'critical phenomenon' model involving nigral dopaminergic and caudate pathways. (2179685)
1990
4
Bilateral piriformis syndrome associated with dystonia musculorum deformans. (2315224)
1990
5
Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (dystonia musculorum deformans). (2456673)
1988
6
Dystonia musculorum deformans: three cases treated on a rehabilitation unit. (2966619)
1988
7
Orthotic technique for dystonia musculorum deformans. (3178457)
1988
8
Rehabilitation of communication impairment in dystonia musculorum deformans. (2977281)
1987
9
Dystonia musculorum deformans in pregnancy. (3468383)
1986
10
Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans. (6470761)
1984
11
Characteristic alterations in responses to imposed wrist displacements in parkinsonian rigidity and dystonia musculorum deformans. (6234055)
1984
12
Treatment of dystonia musculorum deformans. (6694320)
1984
13
Dystonia musculorum deformans: implications of therapeutic response to levodopa and carbamazepine. (7092616)
1982
14
MMPI characteristics associated with cerebral palsy and dystonia musculorum deformans. (482013)
1979
15
Polygraphic analysis of sleep in dystonia musculorum deformans. (227178)
1979
16
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of plaintiff's expert (a neurosurgeon)--part I. (916869)
1977
17
Long-term review of dentatectomy in dystonia musculorum deformans and cerebral palsy. (920302)
1977
18
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of defendant's expert (a neurosurgeon)--part II. (600061)
1977
19
Psychological studies in dystonia musculorum deformans. (941772)
1976
20
Dystonia musculorum deformans: a case study. (993556)
1976
21
20-year followup study of the neurosurgical treatment of dystonia musculorum deformans. (941783)
1976
22
Dystonia musculorum deformans--a status report. (23190)
1976
23
Anesthetic management of a patient with dystonia musculorum deformans. (1130730)
1975
24
Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. (4474046)
1974
25
Apomorphine in dystonia musculorum deformans. (4119749)
1973
26
Levodopa in dystonia musculorum deformans. (4122025)
1973
27
Familial dystonia musculorum deformans and tremor. (5037440)
1972
28
Dystonia musculorum deformans. Analysis with electromyography. (5566110)
1971
29
Pathology of the torsion dystonias (dystonia musculorum deformans). (5529477)
1970
30
Increased intelligence in recessively inherited torsion dystonia (dystonia musculorum deformans). (5535063)
1970
31
The hereditary torsion dystonias (dystonia musculorum deformans): Geographical distribution and IQ in dominant and recessive forms. (5374449)
1969
32
Dystonia musculorum deformans: natural history and neurosurgical alleviation. (5767348)
1969
33
Dystonia musculorum deformans: evidence for hereditary forms. (5690364)
1968
34
Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies. (6050693)
1967
35
A psychiatric study of two patients with dystonia musculorum deformans. (5910628)
1966
36
DYSTONIA MUSCULORUM DEFORMANS PROGRESSIVA. EXPERIENCE WITH DIAZEPAM. (14070940)
1963
37
A CASE OF DYSTONIA MUSCULORUM DEFORMANS. KINEMATOGRAPHIC DEMONSTRATION OF VARIOUS PHASES OF DEVELOPMENT SINCE 1928. (14059912)
1963
38
Dystonia musculorum deformans: neurosurgical treatment, rehabilitation and follow-up. (14022841)
1962
39
Studies on dystonia musculorum deformans. (13957880)
1962
40
Dystonia musculorum deformans. (14450922)
1962
41
Treatment of dystonia musculorum deformans progressiva. (13735241)
1961
42
Idiopathic dystonia musculorum deformans. II. The formes frustes. (13788192)
1960
43
Dystonia musculorum deformans presenting as spasmodic torticolis. (13697597)
1960
44
Idiopathic dystonia musculorum deformans. I. The hereditary pattern. (13661153)
1959
45
Dystonia musculorum deformans alleviated by chemopallidectomy and chemopallidothalamectomy. (13605317)
1959
46
Alleviation of dystonia musculorum deformans and other involuntary movement disorders of childhood by chemopallidectomy and chemopallido-thalamectomy. (13597141)
1957-1958
47
Chemopallidectomy for dystonia musculorum deformans. (13385097)
1956
48
The surgical treatment of dystonia musculorum deformans. (13097210)
1953
49
Dystonia musculorum deformans. (12978961)
1952
50
Dystonia musculorum deformans in siblings; treated with artane (trihexyphenidyl). (14957878)
1952

Genetic Variations for Dystonia Musculorum Deformans

Expression for genes affiliated with Dystonia Musculorum Deformans

Sources:
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

Compounds for genes affiliated with Dystonia Musculorum Deformans

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB
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Compounds related to Dystonia Musculorum Deformans according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-amino acid459.2DBH, GCH1
2mptp459.1GCH1, DBH
3levodopa45 1110.0DBH, GCH1
4gtp45 299.7ASS1, TOR1A, GCH1
5tetrahydrobiopterin45 11 2410.7ASS1, DBH, GCH1
6adenylate458.6ASS1, DBH, AK1
7nadph45 249.5GCH1, DBH, ASS1
8dopamine45 29 11 2411.5DBH, TOR1A, GCH1

GO Terms for genes affiliated with Dystonia Musculorum Deformans

Sources:
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:0076139.2ATP1A3, DBH
3response to painGO:0482659.0DBH, GCH1
4small molecule metabolic processGO:0442818.1ASS1, DBH, AK1, GCH1

Products for genes affiliated with Dystonia Musculorum Deformans

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Sources for Dystonia Musculorum Deformans

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet