BMD
MCID: BCK001
MIFTS: 69

Becker Muscular Dystrophy (BMD) malady

Neuronal diseases, Muscle diseases categories

Summaries for Becker Muscular Dystrophy

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 20GeneTests, 22GTR, 44Novoseek, 56SNOMED-CT, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

300376,159050

Clinical synopsis from OMIM:

159050

Drugs & Therapeutics for Becker Muscular Dystrophy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Becker Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Becker Muscular Dystrophy20 22

Anatomical Context for Becker Muscular Dystrophy

About this section
Sources:
32MalaCards
See all sources

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

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Becker Muscular Dystrophy:

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

Publications for Becker Muscular Dystrophy

About this section
Sources:
50PubMed
See all sources

Articles related to Becker Muscular Dystrophy:

(show top 50)    (show all 461)
idTitleAuthorsYear
1
Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy. (23667215)
2014
2
Correlates of care for young men with duchenne and becker muscular dystrophy. (23558904)
2014
3
Cardiac resynchronization therapy in becker muscular dystrophy. (23685662)
2013
4
Germinal Mosaicism in a Sample of Families with Duchenne/Becker Muscular Dystrophy with Partial Deletions in the DMD Gene. (24236769)
2013
5
Muscle MRI in Becker muscular dystrophy. (22980760)
2012
6
Thenar and hypothenar muscle hypertrophy in Becker muscular dystrophy. (20149660)
2010
7
Coinheritance of Noonan syndrome and Becker muscular dystrophy. (19875288)
2010
8
Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. (19074751)
2009
9
Respiratory surveillance of patients with Duchenne and Becker muscular dystrophy. (21791803)
2009
10
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. (18752307)
2008
11
Becker muscular dystrophy in Indian patients: analysis of dystrophin gene deletion patterns. (18974567)
2008
12
Electromyographic pattern in Duchenne and Becker muscular dystrophy. Part I: Electromyographic pattern in subsequent stages of muscle lesion in Duchenne muscular dystrophy. (18837192)
2008
13
New treatment alternatives for Duchenne and Becker muscular dystrophy. (15037729)
2004
14
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. (12754707)
2003
15
From gene to disease; the dystrophin gene involved in Duchenne and Becker muscular dystrophy]. (11887623)
2002
16
Becker muscular dystrophy-related cardiomyopathy: a favorable response to medical therapy. (11927228)
2002
17
Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy. (11418728)
2001
18
Carrier detection in non-deletional Duchenne/Becker muscular dystrophy families using polymorphic dinucleotide (CA) repeat loci of dystrophin gene. (11280167)
2001
19
Perturbation in dystrophin-associated glycoprotein complex in a boy with Becker muscular dystrophy. (10761838)
2000
20
Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy. (10797409)
2000
21
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
22
Confirmation of Angelman syndrome in a boy previously reported as having Becker muscular dystrophy and severe mental retardation. (10592081)
1999
23
Reduced cytosolic acidification during exercise suggests defective glycolytic activity in skeletal muscle of patients with Becker muscular dystrophy. An in vivo 31P magnetic resonance spectroscopy study. (10050900)
1999
24
Becker muscular dystrophy with bundle branch reentry ventricular tachycardia. (9654233)
1998
25
Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophoresis. (9166226)
1997
26
Troponin I as a specific marker for heart damage after heart transplantation in a patient with becker type muscular dystrophy. (9322149)
1997
27
Correlation of cardiac muscle involvement and the dystrophin gene abnormality in Becker muscular dystrophy]. (9436425)
1997
28
Cardiac function, metabolism and perfusion in Duchenne and Becker muscular dystrophy. (8887952)
1996
29
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. (8818939)
1996
30
Selective loss of sarcolemmal nitric oxide synthase in Becker muscular dystrophy. (8760814)
1996
31
High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patients. (9007319)
1996
32
Nonsense mutations in a Becker muscular dystrophy and an intermediate patient. (8664908)
1996
33
In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy. (7794517)
1995
34
Cardiac dystrophin abnormalities in Becker muscular dystrophy assessed by endomyocardial biopsy. (7900621)
1995
35
Becker muscular dystrophy with onset after 60 years. (7991131)
1994
36
Report on the 16th ENMC workshop--carrier diagnosis of Duchenne and Becker muscular dystrophy. (8400866)
1993
37
Cardiac involvement in Becker muscular dystrophy. (8245351)
1993
38
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy. (8429320)
1993
39
Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy. (1537352)
1992
40
Additional dystrophin fragment in Becker muscular dystrophy patients: correlation with the pattern of DNA deletion. (1488991)
1992
41
Becker muscular dystrophy or spinal muscular atrophy?--Dystrophin studies resolve conflicting results of electromyography and muscle biopsy. (1822794)
1991
42
"Quadriceps myopathy": a clinical variant form of Becker muscular dystrophy. (2230847)
1990
43
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. (2491009)
1989
44
Is there a maturation defect related to calcium in muscle mitochondria from dystrophic mice and Duchenne and Becker muscular dystrophy patients. (2738610)
1989
45
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy. (2688825)
1989
46
Cloning of the Duchenne/Becker muscular dystrophy locus. (3055851)
1988
47
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. (2903663)
1988
48
Becker and limb-girdle muscular dystrophy associated with pituitary dwarfism. (3655848)
1987
49
A cDNA clone from the Duchenne/Becker muscular dystrophy gene. (3614347)
1987
50
Carrier detection in X-linked Becker muscular dystrophy by muscle provocation test (MPT). (6668470)
1983

Genetic Variations for Becker Muscular Dystrophy

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

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

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 51QIAGEN
See all sources

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

About this section
Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Becker Muscular Dystrophy

About this section
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