BMD
MCID: BCK001
MIFTS: 61

Becker Muscular Dystrophy (BMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Becker Muscular Dystrophy

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NIH Rare Diseases:42 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 based summary: Becker Muscular Dystrophy, also known as benign pseudohypertrophic muscular dystrophy, is related to muscular dystrophy and duchenne muscular dystrophy, and has symptoms including 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.

Descriptions from OMIM:46 300376,159050

Aliases & Classifications for Becker Muscular Dystrophy

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 20GeneTests, 22GTR, 44Novoseek, 27ICD9CM, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Becker Muscular Dystrophy, Aliases & Descriptions:

Name: Becker Muscular Dystrophy 30 8 9 42 46 10 48 62
Benign Pseudohypertrophic Muscular Dystrophy 8 42 62
Muscular Dystrophy, Becker Type 42 20 22
Benign Congenital Myopathy 8 62
Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type 42
 
Becker's Muscular Dystrophy 42
Muscular Dystrophy Becker 44
Becker Dystrophinopathy 48
Bmd 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
becker muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Any age


External Ids:

Disease Ontology8 DOID:9883
ICD9CM27 359.0
MESH via Orphanet35 C537666
ICD10 via Orphanet26 G71.0
UMLS via Orphanet63 C0917713

Related Diseases for Becker Muscular Dystrophy

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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 88)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.3FKRP, DMD, CHKB
2duchenne muscular dystrophy31.3DMD, CHKB
3myopathy30.9DMD, FKRP, CHKB
4limb-girdle muscular dystrophy30.9DMD, FKRP
5myotonic dystrophy30.9DMD, CHKB
6dilated cardiomyopathy30.8DMD, FKRP, CHKB
7myositis30.7CHKB, DMD
8neuromuscular disease30.6DMD, CHKB
9neuropathy30.4DMD, FKRP
10mental retardation30.4DMD, FKRP
11noonan syndrome30.3FKRP, CHKB, DMD
12muscular dystrophy, duchenne and becker types10.7
13spinal muscular atrophy10.6
14muscular atrophy10.6
15malignant hyperthermia10.5
16osteoporosis10.5
17gas gangrene10.4DMD
18klinefelter's syndrome10.4
19ischemia10.4
20myotonia10.4
21centronuclear myopathy10.4DMD
22osteoporotic fracture10.3
23arthritis10.3
24celiac disease10.3
25facioscapulohumeral muscular dystrophy10.3
26hodgkin's lymphoma10.3
27liver disease10.3
28schizophrenia10.3
29angelman syndrome10.3
30wolff-parkinson-white syndrome10.3
31fatty liver disease10.3
32myotonic dystrophy type 110.3
33bethlem myopathy10.3
34neuronitis10.3
35cerebritis10.3
36atrioventricular block10.3
37sleep apnea10.3
38mitochondrial disorders10.3
39growth hormone deficiency10.3
40left ventricular noncompaction10.3
41nondystrophic myotonia10.3
42sarcoglycanopathies10.3
43pulmonary function10.3
44focal myositis10.3
45anorexia nervosa10.2
46distal muscular dystrophy10.2DMD, CHKB
47myopathy congenital10.2DMD, CHKB
48turner syndrome10.2DMD, SHOX
49limb-girdle muscular dystrophy, type 2g10.2FKRP, DMD
50muscular dystrophy-dystroglycanopathy , type a, 110.2FKRP, DMD

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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Symptoms by clinical synopsis from OMIM:

159050

Clinical features from OMIM:

300376,159050

HPO human phenotypes related to Becker Muscular Dystrophy:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 muscle weakness HP:0001324
3 abnormality of metabolism/homeostasis HP:0001939
4 muscular dystrophy HP:0003560
5 hyporeflexia HP:0001265
6 muscle weakness HP:0001324
7 x-linked recessive inheritance HP:0001419
8 cardiomyopathy HP:0001638
9 elevated serum creatine phosphokinase HP:0003236
10 myalgia HP:0003326
11 adult onset HP:0003581
12 calf muscle pseudohypertrophy HP:0003707
13 arrhythmia HP:0011675

Drugs & Therapeutics for Becker Muscular Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Becker Muscular Dystrophy

Search NIH Clinical Center for Becker Muscular Dystrophy

Genetic Tests for Becker Muscular Dystrophy

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Genetic tests related to Becker Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Becker Muscular Dystrophy20 22

Anatomical Context for Becker Muscular Dystrophy

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MalaCards organs/tissues related to Becker Muscular Dystrophy:

32
Heart, Testes, Brain, Skeletal muscle, Bone, Colon, Liver

Animal Models for Becker Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Becker Muscular Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6FKRP, MYF6, DMD
2MP:00053698.1CHKB, FKRP, MYF6, DMD
3MP:00053908.0DMD, MYF6, FKRP, CHKB
4MP:00053767.8CHKB, FKRP, MYF6, DMD

Publications for Becker Muscular Dystrophy

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Articles related to Becker Muscular Dystrophy:

(show top 50)    (show all 459)
idTitleAuthorsYear
1
Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India. (25221400)
2014
2
Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa. (24300647)
2013
3
Prognosis of Duchenne/Becker muscular dystrophy with noncompaction is worse than without noncompaction. (23639464)
2013
4
Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea. (22379338)
2012
5
Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy. (22453924)
2012
6
Prenatal diagnosis of Duchenne/Becker muscular dystrophy by short tandem repeat segregation analysis in Argentine families. (21305566)
2011
7
Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients. (20153965)
2010
8
The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations. (21038378)
2010
9
Commentary on 'Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center'. (20555341)
2010
10
Cardiac involvement in Becker muscular dystrophy. (18841259)
2008
11
Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland. (17932095)
2008
12
Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients. (18646563)
2007
13
Valley sign in Becker muscular dystrophy and outliers of Duchenne and Becker muscular dystrophy. (15269471)
2004
14
Electroretinographic findings in Duchenne/Becker muscular dystrophy and correlation with genotype. (12324874)
2002
15
Carrier detection of Duchenne/Becker muscular dystrophy by analysis of STRs loci linked to the gene of dystrophin in Venezuelan families]. (12520997)
2002
16
Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy. (11418728)
2001
17
Becker muscular dystrophy associated with focal myositis on bone scintigraphy. (11129135)
2000
18
Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy. (10093987)
1999
19
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
20
Genetic polymorphism in muscle biopsies of Duchenne and Becker muscular dystrophy patients. (10514583)
1999
21
Manifestations of Duchenne and Becker muscular dystrophy among carriers. (10541963)
1999
22
Deletion patterns in Argentine patients with Duchenne and Becker muscular dystrophy. (9664586)
1998
23
Pilot study of myoblast transfer in the treatment of Becker muscular dystrophy. (9710042)
1998
24
Epilepsy in Duchenne and Becker muscular dystrophies. (10728205)
1997
25
Cardiac function, metabolism and perfusion in Duchenne and Becker muscular dystrophy. (8887952)
1996
26
PCR techniques for deletion, linkage, and mutation analysis in duchenne/becker muscular dystrophy. (21374510)
1996
27
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. (8818939)
1996
28
An unusual association: celiac disease and Becker muscular dystrophy. (8678019)
1996
29
In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy. (7794517)
1995
30
Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. (8329890)
1993
31
Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategies. (7510932)
1993
32
Effects of electrical stimulation on muscles of children with Duchenne and Becker muscular dystrophy. (8232775)
1993
33
Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum. (8284293)
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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UniProtKB/Swiss-Prot genetic disease variations for Becker Muscular Dystrophy:

64
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:

6 (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 variantPathogenicrs1800279GRCh37Chr 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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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:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 50PharmGKB
See all sources

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

idCompoundScoreTop Affiliating Genes
1succinate449.7DMD, CHKB
2ornithine44 2410.6CHKB, DMD
3prednisolone44 28 1111.6CHKB, DMD
4urea44 24 1111.6DMD, CHKB
5agarose449.5CHKB, DMD
6polyacrylamide449.5CHKB, DMD
7glycerol44 24 1111.4CHKB, DMD
8tacrolimus44 50 1111.2CHKB, DMD
9creatinine448.3CHKB, FKRP, MYF6, DMD

GO Terms for genes affiliated with Becker Muscular Dystrophy

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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
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Sources for Becker 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet