BMD
MCID: BCK001
MIFTS: 61

Becker Muscular Dystrophy (BMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Becker Muscular Dystrophy

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Becker muscular dystrophy (bmd) is an inherited condition that primarily affects males and causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. the age of onset and rate of progression can vary among affected people. muscle weakness usually becomes apparent between the ages of 5 and 15. in some cases, heart involvement (cardiomyopathy) is the first sign. bmd is caused by a mutation in the dmd gene and is inherited in an x-linked recessive manner. bmd is very similar to duchenne muscular dystrophy, except that symptoms begin later and progress at a slower rate. there is no cure for this condition, and treatment aims to relieve symptoms to help quality of life. people with bmd may survive into their 40s or beyond. last updated: 3/5/2014

MalaCards: Becker Muscular Dystrophy, also known as muscular dystrophy, becker type, is related to muscular dystrophy and duchenne muscular dystrophy. An important gene associated with Becker Muscular Dystrophy is DMD (dystrophin). The compounds succinate and ornithine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related mouse phenotypes are vision/eye and muscle.

Description from OMIM:48 300376,159050

Aliases & Classifications for Becker Muscular Dystrophy

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 28ICD9CM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

50
becker muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

becker muscular dystrophy 9 10 44 48 11 50 63
muscular dystrophy, becker type 44 21 23
benign pseudohypertrophic muscular dystrophy 9 44
benign congenital myopathy 9 63
muscular dystrophy pseudohypertrophic progressive, becker type 44
becker's muscular dystrophy 44
muscular dystrophy becker 46
becker dystrophinopathy 50
bmd 50


External Ids:

Disease Ontology9 DOID:9883
ICD9CM28 359.0
MESH via Orphanet37 C537666
ICD10 via Orphanet27 G71.0
SNOMED-CT via Orphanet60 387732009
UMLS via Orphanet64 C0917713

Related Diseases for Becker Muscular Dystrophy

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18GeneCards, 19GeneDecks
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Diseases related to Becker Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.3FKRP, DMD, CHKB
2duchenne muscular dystrophy31.1DMD, CHKB
3myopathy31.0DMD, FKRP, CHKB
4myotonic dystrophy30.8DMD, CHKB
5dilated cardiomyopathy30.7DMD, FKRP, CHKB
6limb-girdle muscular dystrophy30.6DMD, FKRP
7myositis30.6CHKB, DMD
8neuromuscular disease30.4DMD, CHKB
9neuropathy30.4DMD, FKRP
10mental retardation30.4DMD, FKRP
11noonan syndrome30.3FKRP, CHKB, DMD
12muscular dystrophy, duchenne and becker types10.7
13muscular atrophy10.5
14spinal muscular atrophy10.5
15malignant hyperthermia10.5
16osteoporosis10.4
17klinefelter's syndrome10.4
18ischemia10.4
19myotonia10.4
20osteoporotic fracture10.3
21atrioventricular block10.2
22angelman syndrome10.2
23wolff-parkinson-white syndrome10.2
24fatty liver disease10.2
25neuronitis10.2
26celiac disease10.2
27facioscapulohumeral muscular dystrophy10.2
28cerebritis10.2
29bethlem myopathy10.2
30arthritis10.2
31hodgkin's lymphoma10.2
32liver disease10.2
33schizophrenia10.2
34sleep apnea10.2
35myotonic dystrophy type 110.2
36mitochondrial disorders10.2
37growth hormone deficiency10.2
38left ventricular noncompaction10.2
39nondystrophic myotonia10.2
40sarcoglycanopathies10.2
41pulmonary function10.2
42focal myositis10.2
43anorexia nervosa10.2
44bone fracture10.1
45obesity10.1
46gas gangrene10.1DMD
47centronuclear myopathy10.1DMD
48distal muscular dystrophy10.0DMD, CHKB
49myopathy congenital10.0DMD, CHKB
50turner syndrome10.0DMD, SHOX

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



Diseases related to becker muscular dystrophy

Symptoms for Becker Muscular Dystrophy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

159050

Clinical features from OMIM:

300376,159050

Drugs & Therapeutics for Becker Muscular Dystrophy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Becker Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Becker Muscular Dystrophy

Search NIH Clinical Center for Becker Muscular Dystrophy

Search CenterWatch for Becker Muscular Dystrophy

Genetic Tests for Becker Muscular Dystrophy

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21GeneTests, 23GTR
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Genetic tests related to Becker Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Becker Muscular Dystrophy21 23

Anatomical Context for Becker Muscular Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Becker Muscular Dystrophy:

34
Heart, Testes, Brain, Skeletal muscle, Liver, Bone, Colon

Animal Models for Becker Muscular Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Becker Muscular Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6FKRP, DMD, MYF6
2MP:00053698.1DMD, MYF6, FKRP, CHKB
3MP:00053908.0CHKB, FKRP, MYF6, DMD
4MP:00053767.8CHKB, DMD, MYF6, FKRP

Publications for Becker Muscular Dystrophy

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Sources:
53PubMed
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Articles related to Becker Muscular Dystrophy:

(show top 50)    (show all 445)
idTitleAuthorsYear
1
Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa. (24300647)
2013
2
Prognosis of Duchenne/Becker muscular dystrophy with noncompaction is worse than without noncompaction. (23639464)
2013
3
Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea. (22379338)
2012
4
Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy. (22453924)
2012
5
Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients. (20153965)
2010
6
The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations. (21038378)
2010
7
Commentary on 'Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center'. (20555341)
2010
8
Cardiac involvement in Becker muscular dystrophy. (18841259)
2008
9
Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland. (17932095)
2008
10
Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients. (18646563)
2007
11
Late gadolinium enhanced cardiovascular magnetic resonance in Becker muscular dystrophy. (15310728)
2004
12
Valley sign in Becker muscular dystrophy and outliers of Duchenne and Becker muscular dystrophy. (15269471)
2004
13
Electroretinographic findings in Duchenne/Becker muscular dystrophy and correlation with genotype. (12324874)
2002
14
Carrier detection of Duchenne/Becker muscular dystrophy by analysis of STRs loci linked to the gene of dystrophin in Venezuelan families]. (12520997)
2002
15
Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy. (11418728)
2001
16
Becker muscular dystrophy associated with focal myositis on bone scintigraphy. (11129135)
2000
17
Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy. (10093987)
1999
18
Statistically significant differences in the number of CD24 positive muscle fibers and satellite cells between sarcoglycanopathy and age-matched Becker muscular dystrophy patients. (10397078)
1999
19
Genetic polymorphism in muscle biopsies of Duchenne and Becker muscular dystrophy patients. (10514583)
1999
20
Manifestations of Duchenne and Becker muscular dystrophy among carriers. (10541963)
1999
21
Deletion patterns in Argentine patients with Duchenne and Becker muscular dystrophy. (9664586)
1998
22
Pilot study of myoblast transfer in the treatment of Becker muscular dystrophy. (9710042)
1998
23
Epilepsy in Duchenne and Becker muscular dystrophies. (10728205)
1997
24
Cardiac function, metabolism and perfusion in Duchenne and Becker muscular dystrophy. (8887952)
1996
25
PCR techniques for deletion, linkage, and mutation analysis in duchenne/becker muscular dystrophy. (21374510)
1996
26
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. (8818939)
1996
27
An unusual association: celiac disease and Becker muscular dystrophy. (8678019)
1996
28
In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy. (7794517)
1995
29
Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. (8329890)
1993
30
Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategies. (7510932)
1993
31
Effects of electrical stimulation on muscles of children with Duchenne and Becker muscular dystrophy. (8232775)
1993
32
Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum. (8284293)
1993
33
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin. (8328458)
1993
34
Carrier detection of Duchenne/Becker muscular dystrophy: computer-assisted direct quantitation of gene amplification products. (1621929)
1992
35
Delayed expression of dystrophin on regenerating muscle from two siblings with Becker muscular dystrophy. (1506856)
1992
36
Dystrophin in frameshift deletion patients with Becker muscular dystrophy. (1496988)
1992
37
Carrier detection of Duchenne and Becker muscular dystrophy using muscle dystrophin immunohistochemistry. (1309152)
1992
38
Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis. (1513470)
1992
39
Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot. (1944822)
1991
40
Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes. (2191136)
1990
41
Quadriceps myopathy: forme fruste of Becker muscular dystrophy. (2260849)
1990
42
An unusual variant of Becker muscular dystrophy. (2193611)
1990
43
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. (2261642)
1990
44
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. (2696500)
1989
45
Detection of Duchenne/Becker muscular dystrophy carriers by densitometric scanning. (2731350)
1989
46
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. (2491009)
1989
47
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. (2897793)
1988
48
The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy. (3572997)
1987
49
Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. (2993158)
1985
50
Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9). (2993155)
1985

Variations for Becker Muscular Dystrophy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Becker Muscular Dystrophy:

65
id Symbol AA change Variation ID SNP ID
1DMDp.Ala168AspVAR_005149
2DMDp.Tyr231AsnVAR_005150
3DMDp.His2921ArgVAR_005170rs1800279
4DMDp.Ala3421ValVAR_005172
5DMDp.Ala171ProVAR_023539

Clinvar genetic disease variations for Becker Muscular Dystrophy:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1DMDDMD, IVS19, A-C, +3single nucleotide variantPathogenic
2DMDDMD, IVS57, G-C, -1single nucleotide variantPathogenic
3DMDNM_004006.2(DMD): c.503C> A (p.Ala168Asp)single nucleotide variantPathogenicrs128626236GRCh37Chr X, 32834612: 32834612
4DMDDMD, IVS2, G-T, -1single nucleotide variantPathogenic
5DMDNM_004006.2(DMD): c.691T> A (p.Tyr231Asn)single nucleotide variantPathogenicrs128626237GRCh37Chr X, 32717369: 32717369
6DMDBMD, IVS13, G-T, -1single nucleotide variantPathogenic
7DMDNM_004006.2(DMD): c.8762A> G (p.His2921Arg)single nucleotide variantBenign, Pathogenicrs1800279GRCh37Chr X, 31496398: 31496398
8DMDNM_004006.2(DMD): c.10262C> T (p.Ala3421Val)single nucleotide variantPathogenicrs104894791GRCh37Chr X, 31196049: 31196049
9DMDDMD, 1-BP DEL, 10683CdeletionPathogenic
10DMDNM_004006.2(DMD): c.3631G> T (p.Glu1211Ter)single nucleotide variantPathogenicrs267606771GRCh37Chr X, 32466728: 32466728
11DMDNM_004006.2(DMD): c.3940C> T (p.Arg1314Ter)single nucleotide variantPathogenicrs5030730GRCh37Chr X, 32456489: 32456489
12DMDNM_004006.2(DMD): c.9225-285A> Gsingle nucleotide variantPathogenicGRCh37Chr X, 31279418: 31279418
13DMDDMD, IVS25, A-G, +2036single nucleotide variantPathogenic
14DMDNM_004006.2(DMD): c.9G> A (p.Trp3Ter)single nucleotide variantPathogenicrs398122853GRCh37Chr X, 33229421: 33229421

Expression for genes affiliated with Becker Muscular Dystrophy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Becker Muscular Dystrophy

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

Pathways for genes affiliated with Becker Muscular Dystrophy

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Compounds for genes affiliated with Becker Muscular Dystrophy

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Sources:
46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank, 52PharmGKB
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Compounds related to Becker Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1succinate469.7DMD, CHKB
2ornithine46 2510.6CHKB, DMD
3prednisolone46 30 1211.6CHKB, DMD
4urea46 25 1211.6DMD, CHKB
5agarose469.5DMD, CHKB
6polyacrylamide469.5DMD, CHKB
7glycerol46 25 1211.4CHKB, DMD
8tacrolimus46 52 1211.2DMD, CHKB
9creatinine468.3CHKB, FKRP, MYF6, DMD

GO Terms for genes affiliated with Becker Muscular Dystrophy

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17Gene Ontology
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Cellular components related to Becker Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:0423839.4FKRP, DMD
2dystrophin-associated glycoprotein complexGO:0160109.1FKRP, DMD

Products for genes affiliated with Becker Muscular Dystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Becker Muscular Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet