BMD
MCID: BCK001
MIFTS: 69

Becker Muscular Dystrophy (BMD) malady

Neuronal diseases, Muscle diseases categories

Summaries for Becker Muscular Dystrophy

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: 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), and among its related pathways are Striated Muscle Contraction and Cytoskeleton remodeling Neurofilaments. The compounds alpha-bungarotoxin and succinate have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related mouse phenotypes are growth/size and muscle.

Description from OMIM:46 300376,159050

Aliases & Classifications for Becker Muscular Dystrophy

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 27ICD9CM, 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, 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


Aliases & Descriptions:

becker muscular dystrophy 8 9 42 46 10 48 60
muscular dystrophy, becker type 42 20 22
benign pseudohypertrophic muscular dystrophy 8 42
benign congenital myopathy 8 60
muscular dystrophy pseudohypertrophic progressive, becker type 42
becker's muscular dystrophy 42
muscular dystrophy becker 44
becker dystrophinopathy 48
bmd 48


External Ids:

Disease Ontology8 DOID:9883
ICD9CM27 359.0
MESH via Orphanet35 C537666
ICD10 via Orphanet26 G71.0
SNOMED-CT via Orphanet57 387732009
UMLS via Orphanet61 C0917713

Related Diseases for Becker Muscular Dystrophy

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17GeneCards, 18GeneDecks
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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 95)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.2DMD, UTRN, NOS1, FKRP, CHKB, GK
2duchenne muscular dystrophy32.1GK, DMD, SNTB1, SNTA1
3myopathy30.9NCAM1, UTRN, GK, DMD, DES, CHKB
4dilated cardiomyopathy30.6FKRP, VCL, CHKB, UTRN, DES, DMD
5limb-girdle muscular dystrophy30.5FKRP, DMD
6myositis30.5CHKB, NCAM1, DMD, UTRN
7ischemia30.5DMD, NOS1, CHKB, VCL, NCAM1, NES
8neuropathy30.3DMD, FKRP, UTRN
9neuromuscular disease30.3NCAM1, DES, DMD, UTRN, VCL, CHKB
10noonan syndrome30.2MYOZ2, NOS1, UTRN, VCL, FKRP, CHKB
11muscular dystrophy, duchenne and becker types10.7
12muscular atrophy10.5
13myotonic dystrophy10.5
14spinal muscular atrophy10.5
15malignant hyperthermia10.4
16osteoporosis10.4
17klinefelter's syndrome10.4
18bone fracture10.3
19osteoporotic fracture10.3
20atrioventricular block10.2
21colon lymphoma10.2
22wolff-parkinson-white syndrome10.2
23angelman syndrome10.2
24cerebritis10.2
25fatty liver disease10.2
26neuronitis10.2
27celiac disease10.2
28facioscapulohumeral muscular dystrophy10.2
29bethlem myopathy10.2
30arthritis10.2
31hodgkin's lymphoma10.2
32liver disease10.2
33myotonic disease10.2
34schizophrenia10.2
35myotonic dystrophy type 110.2
36mitochondrial disorders10.2
37anorexia nervosa10.1
38obesity10.1
39dystrophinopathies10.0DMD
40hypertrophic cardiomyopathy10.0MYOZ2
41hemangioblastoma10.0NES
42myofibrillar myopathy10.0DES
43myasthenia gravis10.0DMD, UTRN
44aland island eye disease10.0GK
45hyperglycerolemia10.0GK, DMD
46x-linked adrenal hypoplasia congenita10.0DMD, GK
47rhabdoid tumor10.0DES
48limb-girdle muscular dystrophy, type 2g10.0DMD, FKRP
49muscular dystrophy-dystroglycanopathy , type a, 1410.0FKRP, DMD
50muscular dystrophy-dystroglycanopathy , type c, 510.0FKRP, CHKB

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



Diseases related to becker muscular dystrophy

Clinical Features for Becker Muscular Dystrophy

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46OMIM
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Clinical features from OMIM:

300376,159050

Clinical synopsis from OMIM:

159050

Drugs & Therapeutics for Becker Muscular Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Becker Muscular Dystrophy:

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

Animal Models for Becker Muscular Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Becker Muscular Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.6UTRN, NOS1, MYF6, FKRP, NCAM1, DMD
2MP:00053698.5SNTA1, DMD, VCL, NOS1, UTRN, MYF6
3MP:00053768.2CHKB, GK, DMD, SNTA1, DES, FKRP
4MP:00053868.1NOS1, FKRP, CHKB, NCAM1, DES, NES
5MP:00036318.0UTRN, GK, DMD, SNTB2, SNTA1, NES
6MP:00107688.0GK, FKRP, VCL, UTRN, NOS1, MYF6

Publications for Becker Muscular Dystrophy

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50PubMed
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Articles related to Becker Muscular Dystrophy:

(show top 50)    (show all 461)
idTitleAuthorsYear
1
CMR detects subclinical cardiomyopathy in mother-carriers of Duchenne and Becker muscular dystrophy. (23579015)
2013
2
Correlation of knee strength to functional outcomes in Becker muscular dystrophy. (23460325)
2013
3
Prognostic impact of left ventricular noncompaction in patients with Duchenne/Becker muscular dystrophy--prospective multicenter cohort study. (23333368)
2013
4
Expectations and experiences of investigators and parents involved in a clinical trial for Duchenne/Becker muscular dystrophy. (24311736)
2013
5
Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies. (23251671)
2012
6
A case of Becker muscular dystrophy with early manifestation of cardiomyopathy. (23049593)
2012
7
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy. (19475718)
2009
8
Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007. (19834452)
2009
9
Myodys, a full-length dystrophin plasmid vector for Duchenne and Becker muscular dystrophy gene therapy. (18228186)
2008
10
Electromyographic pattern in Duchenne and Becker muscular dystrophy. Part II. Electromyographic pattern in Becker muscular dystrophy in comparison with Duchenne muscular dystrophy. (18837193)
2008
11
Body composition and resting energy expenditure of individuals with Duchenne and Becker muscular dystrophy. (19063812)
2008
12
MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients. (18653336)
2008
13
Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients. (18646563)
2007
14
Treatment of psychiatric comorbidities in a patient with becker muscular dystrophy. (17329612)
2007
15
Identify female carriers and de novo mutations in deletional Duchenne/Becker muscular dystrophy families. (16553208)
2006
16
A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy. (16834926)
2006
17
Clinical relevance of plasma brain natriuretic peptide in patients with Duchenne and Becker muscular dystrophy. (15936194)
2005
18
Evolution of gastric electrical features and gastric emptying in children with Duchenne and Becker muscular dystrophy. (15743370)
2005
19
Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy. (14652441)
2003
20
Carrier detection of Duchenne/Becker muscular dystrophy by analysis of STRs loci linked to the gene of dystrophin in Venezuelan families]. (12520997)
2002
21
Becker muscular dystrophy associated with focal myositis on bone scintigraphy. (11129135)
2000
22
Detection of gene deletions in Chinese patients with Duchenne/Becker muscular dystrophy using CDNA probes and the polymerase chain reaction method. (10465346)
1999
23
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. (10407858)
1999
24
A case of Becker muscular dystrophy and massive myoglobinuria with minimal renal manifestations. (9550662)
1998
25
The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy. (9425255)
1997
26
The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related. (9364465)
1997
27
A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation. (8863344)
1996
28
Dystrophin, utrophin and beta-dystroglycan expression in skeletal muscle from patients with Becker muscular dystrophy. (8759779)
1996
29
Is dystrophin always altered in Becker muscular dystrophy patients? (7561956)
1995
30
Muscle CT scans in preclinical cases of Duchenne and Becker muscular dystrophy. (7625556)
1995
31
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
32
Multiplicity of abnormal dystrophin in Becker muscular dystrophy. A Becker muscular dystrophy gene frequently produced two smaller sizes of dystrophin. (8158213)
1994
33
Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients. (8160727)
1994
34
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin. (8328458)
1993
35
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. (8437017)
1993
36
Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients. (8358237)
1993
37
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype? (8490621)
1993
38
Detection of partial deletion and partial duplication of dystrophin gene in Japanese patients with Duchenne or Becker muscular dystrophy. (8358041)
1993
39
Molecular genetics of Duchenne/Becker muscular dystrophy]. (8411723)
1993
40
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. (8437027)
1993
41
Analysis of dystrophin gene deletions in patients from the Mexican population with Duchenne/Becker muscular dystrophy. (8292871)
1993
42
Delayed expression of dystrophin on regenerating muscle from two siblings with Becker muscular dystrophy. (1506856)
1992
43
Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysis. (1422199)
1992
44
Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot. (1944822)
1991
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
Is dystrophin labelling always discontinuous in Becker muscular dystrophy? (2033404)
1991
47
A rare case of adult-onset Becker muscular dystrophy diagnosed by dystrophin staining]. (1724729)
1991
48
Quadriceps myopathy: forme fruste of Becker muscular dystrophy. (2260849)
1990
49
Deletion analysis for Duchenne (and Becker) muscular dystrophy. (2590130)
1989
50
Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids. (2984927)
1985

Genetic Variations for Becker Muscular Dystrophy

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

62
id Symbol AA change Variation ID SNP ID
1DMDp.Ala168AspVAR_005149
2DMDp.Tyr231AsnVAR_005150
3DMDp.His2921ArgVAR_005170rs1800279
4DMDp.Ala3421ValVAR_005172
5DMDp.Ala171ProVAR_023539

Expression for genes affiliated with Becker Muscular Dystrophy

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1BioGPS, 15Gene 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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37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 51QIAGEN
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Pathways related to Becker Muscular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8DMD, DES, VCL
2
Hide members
9.8DCTN4, DES, NES
39.5NOS1, SNTA1, SNTB1, DMD

Compounds for genes affiliated with Becker Muscular Dystrophy

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Becker Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin44 5911.3DMD, DES
2succinate4410.2CHKB, DMD, GK
3dapc4410.2DMD, NOS1, UTRN
4hematoxylin4410.1NCAM1, DES, DMD
5glycerol44 11 2412.0GK, DMD, CHKB, NOS1
6ganglioside449.9NCAM1, DES, NES
7bromodeoxyuridine449.9NCAM1, DES, NES, DMD
8gold449.9DMD, DES, NCAM1, VCL
9heparin44 28 11 2412.6DMD, DES, NCAM1, CHKB, VCL
10urea44 11 2411.6DMD, CHKB, VCL
11glutamine449.6DMD, NCAM1, CHKB, NOS1, VCL
12norepinephrine44 11 2411.5NOS1, CHKB, DES, GK
13h2o2449.4GK, DES, CHKB, NOS1, VCL
14vegf449.3NES, DES, NCAM1, CHKB, NOS1, VCL
15testosterone44 59 11 2412.2DES, NCAM1, CHKB, NOS1, VCL
16estrogen449.2NES, DES, NCAM1, SHOX, CHKB, NOS1
17cysteine449.2DMD, DES, NCAM1, CHKB, NOS1, VCL
18glucose449.2GK, DMD, NES, DES, CHKB, RAB4A
19sodium44 2410.1DMD, SNTB1, SNTB2, SNTA1, NCAM1, RAB4A
20tyrosine448.9VCL, UTRN, MYOZ2, NCAM1, DES, NES
21nitric oxide44 11 2410.8DMD, SNTA1, NES, DES, NCAM1, CHKB
22acetylcholine44 49 28 11 2412.8DMD, NES, DES, NCAM1, MYOZ2, MYF6
23creatinine448.7UTRN, GK, DMD, DES, NCAM1, CHKB
24calcium44 49 11 2411.1DMD, SNTB1, SNTB2, SNTA1, DES, NCAM1

GO Terms for genes affiliated with Becker Muscular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1cell-substrate junctionGO:03005510.2VCL, DMD
2syntrophin complexGO:01601310.1DMD, SNTA1
3fascia adherensGO:0059169.9VCL, DES
4costamereGO:0430349.8VCL, DMD
5Z discGO:0300189.7VCL, MYOZ2, DES, DMD
6synapseGO:0452029.5NOS1, SNTB2, SNTB1
7dystrophin-associated glycoprotein complexGO:0160109.5DMD, SNTB1, SNTB2, FKRP, UTRN
8cytoskeletonGO:0058569.4SNTB1, SNTA1, NOS1, UTRN, VCL
9protein complexGO:0432348.9DMD, SNTB1, SNTB2, SNTA1, NOS1, UTRN
10sarcolemmaGO:0423838.8VCL, DMD, SNTB1, SNTA1, DES, FKRP

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell-matrix adhesionGO:00195410.1UTRN, DMD
2negative regulation of peptidyl-cysteine S-nitrosylationGO:19020839.8SNTA1, DMD
3muscle contractionGO:0069368.9VCL, SNTB1, SNTA1, DES, SLMAP, UTRN

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:00216210.1VCL, DMD
2nitric-oxide synthase bindingGO:05099810.0DMD, SNTA1
3sodium channel regulator activityGO:01708010.0NOS1, SNTA1
4vinculin bindingGO:0171669.8UTRN, DMD
5calmodulin bindingGO:0055169.4SNTB1, SNTB2, SNTA1, NOS1
6actin bindingGO:0037799.0VCL, DMD, SNTB1, SNTB2, SNTA1, MYOZ2
7protein bindingGO:0055157.0DES, SNTA1, SNTB2, SNTB1, DMD, GK

Products for genes affiliated with Becker Muscular Dystrophy

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet