DMD
MCID: DCH001
MIFTS: 78

Duchenne Muscular Dystrophy (DMD) malady

Neuronal diseases, Eye diseases, Muscle diseases categories

Summaries for Duchenne Muscular Dystrophy

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Duchenne muscular dystrophy (dmd) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. it is caused by a mutation in a gene, called the dmd gene, which encodes the muscle protein dystrophin. boys with duchenne muscular dystrophy do not make the dystrophin protein in their muscles. duchenne mucular dystrophy is inherited in an x-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. individuals who have dmd have progressive loss of muscle function and weakness, which begins in the lower limbs. in addition to the skeletal muscles used for movement, dmd may also affect the muscles of the heart.  there is no known cure for duchenne muscular dystrophy. treatment is aimed at control of symptoms to maximize the quality of life. last updated: 1/8/2009

MalaCards: Duchenne Muscular Dystrophy, also known as muscular dystrophy, duchenne, is related to muscular dystrophy and becker muscular dystrophy. An important gene associated with Duchenne Muscular Dystrophy is DMD (dystrophin), and among its related pathways are Collagen biosynthesis and modifying enzymes and Hypertrophic cardiomyopathy (HCM). The compounds urea and glycerol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and smooth muscle, and related mouse phenotypes are nervous system and behavior/neurological.

Disease Ontology:8 A muscular dystrophy that has material basis in x-linked disease caused by mutations in the dmd gene found on the x chromosome. it is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. it affects males whereas females can be carriers. the symptoms start before the age of six and may appear at infancy.

Wikipedia:63 Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, affecting around 1... more...

Description from OMIM:46 310200

Aliases & Classifications for Duchenne Muscular Dystrophy

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 48Orphanet, 30LifeMap Discovery™, 20GeneTests, 22GTR, 60UMLS, 44Novoseek, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
duchenne muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Young adult


Aliases & Descriptions:

duchenne muscular dystrophy 8 9 42 46 10 48 30
muscular dystrophy, duchenne 8 42 20 22 60
dmd 42 48
muscular dystrophy, pseudohypertrophic progressive, duchenne type 42
severe dystrophinopathy, duchenne type 48
muscular dystrophy duchenne 44


External Ids:

Disease Ontology8 DOID:11723
NCIt39 C75482
OMIM46 310200
MESH via Orphanet35 D020388
ICD10 via Orphanet26 G71.0
SNOMED-CT via Orphanet57 76670001
UMLS via Orphanet61 C0013264

Related Diseases for Duchenne Muscular Dystrophy

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17GeneCards, 18GeneDecks
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Diseases related to Duchenne Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 155)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.4GK, DMD, ITGA7, CHKB, DAG1, OTC
2becker muscular dystrophy31.1DMD, GK
3neuromuscular disease30.9MSTN, CHKB, DMD
4myopathy30.6GK, DMD, ITGA7, CHKB, DAG1, MSTN
5limb-girdle muscular dystrophy30.6CHKB, DMD
6aland island eye disease30.5GK
7neuropathy30.3DMD, DAG1, MSTN
8hyperglycerolemia30.3DMD, GK
9dystrophinopathies30.3DMD
10walker-warburg syndrome30.3DAG1, DMD
11intellectual disability30.2GK, DMD, DAG1
12distal muscular dystrophy30.2CHKB, DMD
13mental retardation30.1GK, DMD, OTC
14myopathy congenital29.9CHKB, ITGA7, DMD
15glycogen storage disease29.9OTC, DMD
16gas gangrene29.9DMD
17muscular dystrophy, duchenne and becker types10.7
18congenital muscular dystrophy10.6
19muscular atrophy10.6
20spinal muscular atrophy10.5
21ischemia10.5
22myotonic dystrophy10.5
23neuronitis10.4
24dilated cardiomyopathy10.4
25retinitis10.4
26lateral sclerosis10.3
27chronic granulomatous disease10.3
28cerebritis10.3
29congenital stationary night blindness10.3
30retinitis pigmentosa10.3
31nephrolithiasis10.3
32amyotrophic lateral sclerosis10.3
33eye disease10.3
34night blindness10.3
35rhabdomyosarcoma10.3
36sleep disorder10.3
37hemophilia10.3
38skeletal muscle regeneration10.3
39attention deficit hyperactivity disorder10.2
40cardiac tamponade10.2
41diamond-blackfan anemia10.2
42cystic fibrosis10.2
43ichthyosis vulgaris10.2
44wolff-parkinson-white syndrome10.2
45diabetic ketoacidosis10.2
46olivopontocerebellar atrophy10.2
47egg allergy10.2
48gastric dilatation10.2
49basilar artery occlusion10.2
50ocular albinism10.2

Graphical network of the top 20 diseases related to Duchenne Muscular Dystrophy:



Diseases related to duchenne muscular dystrophy

Clinical Features for Duchenne Muscular Dystrophy

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46OMIM
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Clinical features from OMIM:

310200

Clinical synopsis from OMIM:

310200

Drugs & Therapeutics for Duchenne Muscular Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Duchenne Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Duchenne Muscular Dystrophy

Search NIH Clinical Center for Duchenne Muscular Dystrophy

Search CenterWatch for Duchenne Muscular Dystrophy

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Duchenne Muscular Dystrophy cell therapies at LifeMap Discovery.

Genetic Tests for Duchenne Muscular Dystrophy

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20GeneTests, 22GTR
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Genetic tests related to Duchenne Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Duchenne Muscular Dystrophy20 22

Anatomical Context for Duchenne Muscular Dystrophy

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Duchenne Muscular Dystrophy:

32
Skeletal muscle, Heart, Smooth muscle, Testes, Bone, Brain, Eye, Lung, T cells, Skin, Liver, Bone marrow, Endothelial, Spinal cord, Retina, Cortex

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Duchenne Muscular Dystrophy:
id TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
2 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate
3 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Duchenne Muscular Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Duchenne Muscular Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.6GK, DRP2, DMD, SNTB2, ITGA7, CHKB
2MP:000538610.5MSTN, PVALB, GK, DMD, SNTB2, ITGA7
3MP:000536910.3PVALB, DMD, ITGA7, CHKB, LTBP4, DAG1

Publications for Duchenne Muscular Dystrophy

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50PubMed
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Articles related to Duchenne Muscular Dystrophy:

(show top 50)    (show all 1019)
idTitleAuthorsYear
1
CINRG Duchenne Natural History Study demonstrates insufficient diagnosis and treatment of cardiomyopathy in Duchenne muscular dystrophy. (24395289)
2014
2
Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa. (24300647)
2013
3
Unexpected tracheal narrowing during general anesthesia in the prone position of Duchenne muscular dystrophy patient -A report of two cases-. (23741571)
2013
4
Skeletal muscles of ambulant children with Duchenne muscular dystrophy: validation of multicenter study of evaluation with MR imaging and MR spectroscopy. (23696684)
2013
5
Quantitative phenotyping of Duchenne muscular dystrophy dogs by comprehensive gait analysis and overnight activity monitoring. (23544107)
2013
6
Progressive respiratory insufficiency in the absence of cardiac disease in late-stage Duchenne muscular dystrophy. (22781000)
2013
7
On the path to a duchenne muscular dystrophy therapy. (23641422)
2013
8
Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy. (23831727)
2013
9
Orthodontic treatment of a patient with Duchenne muscular dystrophy and macroglossia: how informed consent was critical to success. (24286912)
2013
10
Left ventricular noncompaction in Duchenne muscular dystrophy. (23914774)
2013
11
Decreased resting energy expenditure in patients with Duchenne muscular dystrophy. (21632191)
2012
12
Mental retardation in Duchenne muscular dystrophy. (22344614)
2012
13
Quantitative muscle ultrasound is a promising longitudinal follow-up tool in Duchenne muscular dystrophy. (22133654)
2012
14
Antisense oligo-mediated multiple exon skipping in a dog model of duchenne muscular dystrophy. (21194037)
2011
15
Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. (21969337)
2011
16
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. (21784508)
2011
17
Duchenne muscular dystrophy: quality of life among 95 patients evaluated using the Life Satisfaction Index for Adolescents. (21359417)
2011
18
Skipping along: an exon skipping therapy shows promise for Duchenne muscular dystrophy. (21883166)
2011
19
PRO-051, an antisense oligonucleotide for the potential treatment of Duchenne muscular dystrophy. (20677099)
2010
20
MicroRNAs involved in molecular circuitries relevant for the Duchenne muscular dystrophy pathogenesis are controlled by the dystrophin/nNOS pathway. (20727829)
2010
21
High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy. (19027585)
2008
22
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. (17259292)
2007
23
Fibre-related nitric oxide synthase (NOS) in Duchenne muscular dystrophy. (17313973)
2007
24
Altered extracellular matrix transcript expression and protein modulation in primary Duchenne muscular dystrophy myotubes. (17662584)
2007
25
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. (12206800)
2002
26
Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. (11087833)
2000
27
Genetic epidemiology of Duchenne and Becker muscular dystrophy in Slovenia. (9111995)
1997
28
Syndrome of contiguous gene deletions in Xp-21 (deficiency of the glycerol-kinase complex). The association of Duchenne muscular dystrophy, glycerol kinase deficiency and congenital suprarenal hypoplasia]. (9575126)
1997
29
Increase in fetal breech presentation in female carriers of Duchenne muscular dystrophy. (9415684)
1997
30
The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related. (9364465)
1997
31
Molecular deletion patterns in Turkish Duchenne and Becker muscular dystrophy patients. (8733896)
1996
32
Octreotide enhances positive calcium balance in Duchenne muscular dystrophy. (7668311)
1995
33
Dystrophin and dystrophin-related protein in the central nervous system of normal controls and Duchenne muscular dystrophy. (8171962)
1994
34
Abnormalities in the expression of beta-spectrin in Duchenne muscular dystrophy. (8208414)
1994
35
A case of Duchenne muscular dystrophy with truncated dystrophin. Significance of a cysteine-rich domain for functional expression of dystrophin protein. (8214349)
1993
36
Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. (8413368)
1993
37
Report on the 16th ENMC workshop--carrier diagnosis of Duchenne and Becker muscular dystrophy. (8400866)
1993
38
Deletion screening of Sri Lankan Duchenne muscular dystrophy patients using the polymerase chain reaction. (7681651)
1993
39
A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. (8401582)
1993
40
A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction. (1785656)
1991
41
Pathobiogenetic concept of Duchenne muscular dystrophy following the discovery of dystrophin as the deficient protein]. (1897290)
1991
42
Similar proportion of sporadic cases in cytochrome b558 negative chronic granulomatous disease and Duchenne muscular dystrophy. (1811095)
1991
43
Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA. (1704092)
1991
44
Is there a maturation defect related to calcium in muscle mitochondria from dystrophic mice and Duchenne and Becker muscular dystrophy patients. (2738610)
1989
45
Deletion analysis for Duchenne (and Becker) muscular dystrophy. (2590130)
1989
46
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy. (2688825)
1989
47
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. (2897793)
1988
48
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. (3607877)
1987
49
X;autosome translocations in females with Duchenne or Becker muscular dystrophy. (3461282)
1986
50
Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families. (2995231)
1985

Genetic Variations for Duchenne Muscular Dystrophy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Duchenne Muscular Dystrophy:

62
id Symbol AA change Variation ID SNP ID
1DMDp.Leu54ArgVAR_005147
2DMDp.Lys773GluVAR_005154
3DMDp.Asp645GlyVAR_023541
4DMDp.Asp3335HisVAR_023546
5DMDp.Cys3340TyrVAR_023547

Expression for genes affiliated with Duchenne Muscular Dystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Duchenne Muscular Dystrophy

Search GEO for disease gene expression data for Duchenne Muscular Dystrophy.

Pathways for genes affiliated with Duchenne Muscular Dystrophy

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN
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Compounds for genes affiliated with Duchenne Muscular Dystrophy

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1urea44 11 2412.8SERPINA7, OTC, MIP, CHKB, DMD
2glycerol44 11 2412.8GK, DMD, CHKB, MIP, OTC
3creatinine4410.8SERPINA7, OTC, CHKB, ITGA7, DMD, GK
4glucose4410.8GK, DMD, CHKB, MIP, OTC, MSTN
5ammonium4410.7PVALB, MIP, OTC
6sodium44 2411.7DMD, SNTB1, SNTB2, MIP, OTC
7polyacrylamide4410.7PVALB, DMD, CHKB, SERPINA7
8succinate4410.6CHKB, DMD, GK
9atp44 2811.6PVALB, GK, DMD, CHKB, MIP, OTC
10arginine4410.5SERPINA7, OTC, MIP, CHKB, DMD
11ornithine44 2411.5DMD, CHKB, OTC
12calcium44 49 11 2413.4C1QC, PVALB, DMD, SNTB1, SNTB2, CHKB
13hind iii4410.2DMD, OTC

GO Terms for genes affiliated with Duchenne Muscular Dystrophy

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16Gene Ontology
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Cellular components related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:01601010.6DAG1, SNTB2, SNTB1, DMD
2cytoplasmGO:00573710.6GK, DRP2, SNTG2, SNTB1, SNTB2, ITGA7
3sarcolemmaGO:04238310.5DMD, SNTG2, SNTB1, DAG1
4cytoskeletonGO:00585610.4SNTB1, SNTG2, DRP2
5syntrophin complexGO:01601310.2DMD, SNTG2

Biological processes related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00751710.5MSTN, ITGA7, DMD
2extracellular matrix organizationGO:03019810.2DAG1, LTBP4, ITGA7, DMD

Molecular functions related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00550910.5DAG1, LTBP4, DMD, DRP2, PVALB
2actin bindingGO:00377910.5DAG1, SNTB2, SNTB1, SNTG2, DMD
3vinculin bindingGO:01716610.4DAG1, DMD
4phospholipid bindingGO:00554310.2SNTG2, SNTB1, SNTB2, OTC

Products for genes affiliated with Duchenne Muscular Dystrophy

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Sources for Duchenne Muscular Dystrophy

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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