DMD
MCID: DCH001
MIFTS: 70

Duchenne Muscular Dystrophy (DMD) malady

Neuronal, Eye, Muscle categories

Summaries for Duchenne Muscular Dystrophy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 becker muscular dystrophy and mental retardation. 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 skin, liver and spinal cord, 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:64 Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, affecting around 1... more...

Description from OMIM:47 310200

Aliases & Classifications for Duchenne Muscular Dystrophy

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 49Orphanet, 31LifeMap Discovery™, 20GeneTests, 22GTR, 61UMLS, 45Novoseek, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 47 10 49 31
muscular dystrophy, duchenne 8 43 20 22 61
dmd 43 49
muscular dystrophy, pseudohypertrophic progressive, duchenne type 43
severe dystrophinopathy, duchenne type 49
muscular dystrophy duchenne 45


External Ids:

Disease Ontology8 DOID:11723
NCIt40 C75482
OMIM47 310200
MESH via Orphanet36 D020388
ICD10 via Orphanet26 G71.0
SNOMED-CT via Orphanet58 76670001
UMLS via Orphanet62 C0013264

Related Diseases for Duchenne Muscular Dystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1becker muscular dystrophy31.1DMD, GK
2mental retardation30.9OTC, GK, DMD
3limb-girdle muscular dystrophy30.7CHKB, DMD
4dystrophinopathies30.4DMD
5hyperglycerolemia30.3DMD, GK
6walker-warburg syndrome30.3DAG1, DMD
7aland island eye disease30.2GK
8distal muscular dystrophy30.2DMD, CHKB
9myopathy congenital30.0DMD, CHKB, ITGA7
10gas gangrene30.0DMD
11muscular dystrophy, duchenne and becker types10.8
12muscular atrophy10.6
13spinal muscular atrophy10.6
14dysphagia10.5
15pulmonary function10.5
16lateral sclerosis10.4
17chronic granulomatous disease10.4
18congenital stationary night blindness10.4
19retinitis pigmentosa10.4
20nephrolithiasis10.4
21amyotrophic lateral sclerosis10.4
22sleep disorder10.4
23hemophilia10.4
24skeletal muscle regeneration10.4
25macroglossia10.4
26blindness10.4
27attention deficit hyperactivity disorder10.2
28cardiac tamponade10.2
29diamond-blackfan anemia10.2
30cystic fibrosis10.2
31ichthyosis vulgaris10.2
32wolff-parkinson-white syndrome10.2
33diabetic ketoacidosis10.2
34olivopontocerebellar atrophy10.2
35gastric dilatation10.2
36basilar artery occlusion10.2
37ocular albinism10.2
38fatty liver disease10.2
39alveolar rhabdomyosarcoma10.2
40coats disease10.2
41mu chain disease10.2
42waardenburg's syndrome10.2
43protein s deficiency10.2
44polyhydramnios10.2
45peripartum cardiomyopathy10.2
46prader-willi syndrome10.2
47adenosine deaminase deficiency10.2
48postpoliomyelitis syndrome10.2
49n syndrome10.2
50protein c deficiency10.2

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



Diseases related to duchenne muscular dystrophy

Clinical Features for Duchenne Muscular Dystrophy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

310200

Clinical synopsis from OMIM:

310200

Drugs & Therapeutics for Duchenne Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Duchenne Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Duchenne Muscular Dystrophy20 22

Anatomical Context for Duchenne Muscular Dystrophy

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Duchenne Muscular Dystrophy:

33
Skin, Liver, Spinal cord, Brain, Lung, Bone marrow, Whole blood, Cortex, Retina, Heart, Smooth muscle, Skeletal muscle, T cells, B cells, Endothelial, Fetal brain, Prefrontal cortex, Cardiac myocytes, Fetal liver, Fetal lung, Adrenal 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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Duchenne Muscular Dystrophy:

37
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

Sources:
51PubMed
See all sources

Articles related to Duchenne Muscular Dystrophy:

(show top 50)    (show all 1027)
idTitleAuthorsYear
1
CINRG Duchenne Natural History Study demonstrates insufficient diagnosis and treatment of cardiomyopathy in Duchenne muscular dystrophy. (24395289)
2014
2
Cardiac phenotype of Duchenne Muscular Dystrophy: insights from cellular studies. (23261966)
2013
3
Neuropsychological Profile of Duchenne Muscular Dystrophy. (24279481)
2013
4
Novel mutation in exon 56 of the dystrophin gene in a child with Duchenne muscular dystrophy. (24065205)
2013
5
Unilateral spinal anesthesia in a pediatric patient with Duchenne muscular dystrophy: a case report. (24088204)
2013
6
Eteplirsen for the treatment of Duchenne muscular dystrophy. (23907995)
2013
7
Questions about efficacy of exon-skipping therapy for Duchenne muscular dystrophy. (24327535)
2013
8
Left ventricular noncompaction in Duchenne muscular dystrophy. (23914774)
2013
9
Assessment of sleep-related breathing disorders in patients with duchenne muscular dystrophy. (23024736)
2012
10
Interference with myostatin/ActRIIB signaling as a therapeutic strategy for Duchenne muscular dystrophy. (22554312)
2012
11
Assessment of cardiac abnormalities in Duchenne's muscular dystrophy by (99m)Tc-MIBI gated myocardial perfusion imaging. (22833857)
2012
12
High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation. (22335324)
2012
13
Mental retardation in Duchenne muscular dystrophy. (22344614)
2012
14
Dantrolene enhances antisense-mediated exon skipping in human and mouse models of Duchenne muscular dystrophy. (23241744)
2012
15
Quantitative muscle ultrasound is a promising longitudinal follow-up tool in Duchenne muscular dystrophy. (22133654)
2012
16
The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. (20978473)
2011
17
Evidence for impaired neurovascular transmission in a murine model of Duchenne muscular dystrophy. (21109597)
2011
18
Osteopontin-stimulated expression of matrix metalloproteinase-9 causes cardiomyopathy in the mdx model of Duchenne muscular dystrophy. (21810612)
2011
19
Antisense oligo-mediated multiple exon skipping in a dog model of duchenne muscular dystrophy. (21194037)
2011
20
Duchenne and Becker muscular dystrophy presenting as nonalcoholic fatty liver disease. (21970998)
2011
21
Activation of NF-kappaB pathway in Duchenne muscular dystrophy: relation to age. (21842588)
2011
22
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
23
Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy. (20207610)
2010
24
Duchenne muscular dystrophy in a female patient with a karyotype of 46,X,i(X)(q10). (20944443)
2010
25
Clinical use of immunosuppressants in Duchenne muscular dystrophy. (20808159)
2010
26
Stromal cell-derived factors in Duchenne muscular dystrophy. (21574524)
2010
27
MicroRNAs involved in molecular circuitries relevant for the Duchenne muscular dystrophy pathogenesis are controlled by the dystrophin/nNOS pathway. (20727829)
2010
28
Laminin-111: a potential therapeutic agent for Duchenne muscular dystrophy. (20683444)
2010
29
Immortalized skin fibroblasts expressing conditional MyoD as a renewable and reliable source of converted human muscle cells to assess therapeutic strategies for muscular dystrophies: validation of an exon-skipping approach to restore dystrophin in Duchenne muscular dystrophy cells. (19358679)
2009
30
Current understanding and management of dilated cardiomyopathy in Duchenne and Becker muscular dystrophy. (19432907)
2009
31
Myodys, a full-length dystrophin plasmid vector for Duchenne and Becker muscular dystrophy gene therapy. (18228186)
2008
32
Albuterol increases lean body mass in ambulatory boys with Duchenne or Becker muscular dystrophy. (17942817)
2008
33
Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy. (16627883)
2006
34
Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy. (11418728)
2001
35
Genetic polymorphism in muscle biopsies of Duchenne and Becker muscular dystrophy patients. (10514583)
1999
36
Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutants. (10068512)
1999
37
Detection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophy. (24283906)
1997
38
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
39
Increase in fetal breech presentation in female carriers of Duchenne muscular dystrophy. (9415684)
1997
40
High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patients. (9007319)
1996
41
Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy. (8190471)
1994
42
Deletion screening of Sri Lankan Duchenne muscular dystrophy patients using the polymerase chain reaction. (7681651)
1993
43
Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy. (8323331)
1993
44
Carrier detection of Duchenne and Becker muscular dystrophy using muscle dystrophin immunohistochemistry. (1309152)
1992
45
Modification of the calculation of risk factors in women, possible carriers of Duchenne muscular dystrophy, based on CPK levels]. (1443913)
1992
46
Similar proportion of sporadic cases in cytochrome b558 negative chronic granulomatous disease and Duchenne muscular dystrophy. (1811095)
1991
47
Improved diagnosis of Duchenne/Becker muscular dystrophy. (1968908)
1990
48
Deletion analysis for Duchenne (and Becker) muscular dystrophy. (2590130)
1989
49
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy. (2688825)
1989
50
Prenatal testing for Duchenne and Becker muscular dystrophy. (2893082)
1988

Genetic Variations for Duchenne Muscular Dystrophy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Duchenne Muscular Dystrophy:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN
See all sources

Compounds for genes affiliated with Duchenne Muscular Dystrophy

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1urea45 11 2412.8SERPINA7, OTC, MIP, CHKB, DMD
2glycerol45 11 2412.8GK, DMD, CHKB, MIP, OTC
3creatinine4510.8SERPINA7, OTC, CHKB, ITGA7, DMD, GK
4glucose4510.8GK, DMD, CHKB, MIP, OTC, MSTN
5ammonium4510.7PVALB, MIP, OTC
6sodium45 2411.7DMD, SNTB1, SNTB2, MIP, OTC
7polyacrylamide4510.7PVALB, DMD, CHKB, SERPINA7
8succinate4510.6CHKB, DMD, GK
9atp45 2911.6PVALB, GK, DMD, CHKB, MIP, OTC
10arginine4510.5SERPINA7, OTC, MIP, CHKB, DMD
11ornithine45 2411.5DMD, CHKB, OTC
12calcium45 50 11 2413.4C1QC, PVALB, DMD, SNTB1, SNTB2, CHKB
13hind iii4510.2DMD, OTC

GO Terms for genes affiliated with Duchenne Muscular Dystrophy

Sources:
16Gene Ontology
See all sources

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

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