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
Symptomatic female carriers of Duchenne muscular dystrophy (DMD): Genetic and clinical characterization. (24135430)
2014
2
Correlates of care for young men with duchenne and becker muscular dystrophy. (23558904)
2014
3
Biogenesis and function of non-coding RNAs in muscle differentiation and in Duchenne muscular dystrophy. (23863142)
2013
4
Capillary electrophoresis for analysis of deletion and duplication in exon 44-55 of Duchenne muscular dystrophy gene. (23818053)
2013
5
Clinical trials using antisense oligonucleotides in duchenne muscular dystrophy. (23521559)
2013
6
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. (24225992)
2013
7
Use of ultrasound-guided intercostal nerve block as a sole anaesthetic technique in a high-risk patient with Duchenne muscular dystrophy. (24191530)
2013
8
Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy. (23438214)
2013
9
Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy. (22985905)
2013
10
Arginine butyrate: a therapeutic candidate for Duchenne muscular dystrophy. (23430975)
2013
11
Update on the treatment of Duchenne muscular dystrophy. (23328943)
2013
12
Vascular-targeted therapies for Duchenne muscular dystrophy. (23618411)
2013
13
Acute blood flow restricted exercise to treat Duchenne muscular dystrophy: would it be efficacious? (23720637)
2013
14
Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy. (23716304)
2013
15
Initial pulmonary respiration causes massive diaphragm damage and hyper-CKemia in Duchenne muscular dystrophy dog. (23851606)
2013
16
Cyclooxygenase-2 expression in skeletal muscle of knockout mice suffering Duchenne muscular dystrophy. (23188550)
2013
17
Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives. (22655510)
2012
18
Dystrophin deficiency compromises force production of the extensor carpi ulnaris muscle in the canine model of Duchenne muscular dystrophy. (22973449)
2012
19
Low abdominal contribution to breathing as daytime predictor of nocturnal desaturation in adolescents and young adults with Duchenne Muscular Dystrophy. (22083092)
2012
20
Exercise and Duchenne muscular dystrophy: where we have been and where we need to go. (22499105)
2012
21
Vascular endothelial dysfunction in Duchenne muscular dystrophy is restored by bradykinin through upregulation of eNOS and nNOS. (22193759)
2012
22
Melatonin treatment counteracts the hyperoxidative status in erythrocytes of patients suffering from Duchenne muscular dystrophy. (21515247)
2011
23
Evaluation of exon-skipping strategies for Duchenne muscular dystrophy utilizing dystrophin-deficient zebrafish. (21251213)
2011
24
Drug screening in a zebrafish model of Duchenne muscular dystrophy. (21402949)
2011
25
The neuropsychological profile of infantile Duchenne muscular dystrophy. (21999586)
2011
26
Exacerbation of pathology by oxidative stress in respiratory and locomotor muscles with Duchenne muscular dystrophy. (21486793)
2011
27
CPP-directed oligonucleotide exon skipping in animal models of Duchenne muscular dystrophy. (21053140)
2011
28
Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy. (21149430)
2011
29
Physical training in boys with Duchenne Muscular Dystrophy: the protocol of the No Use is Disuse study. (20691042)
2010
30
Sildenafil reverses cardiac dysfunction in the mdx mouse model of Duchenne muscular dystrophy. (20956307)
2010
31
Exon-skipped dystrophins for treatment of Duchenne muscular dystrophy: mass spectrometry mapping of most exons and cooperative domain designs based on single molecule mechanics. (20886611)
2010
32
Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis. (20847377)
2010
33
Allogeneic umbilical cord blood stem cell transplantation in Duchenne muscular dystrophy]. (15949330)
2005
34
A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy. (16122626)
2005
35
Early onset of inflammation and later involvement of TGFbeta in Duchenne muscular dystrophy. (16093456)
2005
36
Electrocardiographic findings in mdx mice: a cardiac phenotype of Duchenne muscular dystrophy. (12362417)
2002
37
Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis. (12132577)
2002
38
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. (11409421)
2001
39
Carrier detection of Duchenne/Becker muscular dystrophy by using fluorescent linkage analysis in Taiwan. (10927942)
2000
40
Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: the use of new designed primers for the analysis of the major deletion "hot spot" region. (9188659)
1997
41
Proportion and pattern of dystrophin gene deletions in north Indian Duchenne and Becker muscular dystrophy patients. (9048922)
1997
42
Duchenne/Becker muscular dystrophy: from molecular diagnosis to gene therapy. (8836495)
1996
43
More deletions in the 5' region than in the central region of the dystrophin gene were identified among Filipino Duchenne and Becker muscular dystrophy patients. (8588598)
1995
44
Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. (8199594)
1994
45
DNA analysis of Duchenne and Becker muscular dystrophy using pERT87 genomic probes and dystrophin cDNA probes--establishing the optimum strategy for carrier diagnosis in the Japanese population. (1684391)
1991
46
Evaluation of the activity of creatine phosphokinase for the detection of carriers of Duchenne-type muscular dystrophy in families in the city of Monterrey, Mexico]. (2236973)
1990
47
Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus. (2227948)
1990
48
Molecular genetics of Duchenne and Becker muscular dystrophy. (2196352)
1990
49
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. (2696500)
1989
50
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. (2491009)
1989

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