MCID: BCK001
MIFTS: 61

Becker Muscular Dystrophy malady

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

Summaries for Becker Muscular Dystrophy

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OMIM:45 The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of... (300376) more...

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 hyporeflexia, muscle weakness and x-linked recessive inheritance. 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 skeletal muscle, heart and testes, and related mouse phenotypes are vision/eye and muscle.

NIH Rare Diseases:41 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

Aliases & Classifications for Becker Muscular Dystrophy

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Becker Muscular Dystrophy, Aliases & Descriptions:

Name: Becker Muscular Dystrophy 45 30 9 10 41 11 47 60
Benign Pseudohypertrophic Muscular Dystrophy 9 41 60
Muscular Dystrophy, Becker Type 45 41
Becker's Muscular Dystrophy 41 20
Benign Congenital Myopathy 9 60
 
Muscular Dystrophy Becker 43 22
Becker Dystrophinopathy 41 47
Bmd 41 47
Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
becker muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: any age


External Ids:

OMIM45 300376
Disease Ontology9 DOID:9883
ICD9CM27 359.0
Orphanet47 98895
MESH via Orphanet34 C537666
ICD10 via Orphanet26 G71.0
UMLS via Orphanet61 C0917713

Related Diseases for Becker Muscular Dystrophy

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Diseases related to Becker Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.3FKRP, DMD, CHKB
2duchenne muscular dystrophy31.5DMD, CHKB
3limb-girdle muscular dystrophy30.9DMD, FKRP
4myopathy30.9DMD, FKRP, CHKB
5dilated cardiomyopathy30.8DMD, FKRP, CHKB
6myotonic dystrophy30.7DMD, CHKB
7neuromuscular disease30.6DMD, CHKB
8myositis30.5CHKB, DMD
9neuropathy30.4DMD, FKRP
10mental retardation30.3DMD, FKRP
11spinal muscular atrophy10.5
12muscular atrophy10.5
13osteoporosis10.5
14muscle hypertrophy10.5
15malignant hyperthermia10.5
16gas gangrene10.4DMD
17klinefelter's syndrome10.4
18ischemia10.4
19muscular dystrophy, duchenne and becker types10.4
20myotonia10.4
21myopathy, centronuclear10.4DMD
22osteoporotic fracture10.3
23schizophrenia10.2
24bethlem myopathy10.2
25pulmonary function10.2
26wolff-parkinson-white syndrome10.2
27angelman syndrome10.2
28glycerol kinase deficiency10.2
29celiac disease10.2
30myotonia congenita, recessive10.2
31arthritis10.2
32liver disease10.2
33fatty liver disease10.2
34neuronitis10.2
35endomyocardial fibrosis10.2
36cerebritis10.2
37atrioventricular block10.2
38sleep apnea10.2
39mitochondrial disorders10.2
40growth hormone deficiency10.2
41left ventricular noncompaction10.2
42nondystrophic myotonia10.2
43sarcoglycanopathies10.2
44anorexia nervosa10.2
45distal muscular dystrophy10.2DMD, CHKB
46myopathy congenital10.2DMD, CHKB
47turner syndrome10.2DMD, SHOX
48muscular dystrophy, limb-girdle, type 2g10.2FKRP, DMD
49muscle eye brain disease10.1FKRP, DMD
50muscular dystrophy, limb-girdle, type 2f10.1DMD, FKRP

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:

300376

Clinical features from OMIM:

300376

HPO human phenotypes related to Becker Muscular Dystrophy:

(show all 9)
id Description Frequency HPO Source Accession
1 hyporeflexia HP:0001265
2 muscle weakness HP:0001324
3 x-linked recessive inheritance HP:0001419
4 cardiomyopathy HP:0001638
5 elevated serum creatine phosphokinase HP:0003236
6 myalgia HP:0003326
7 adult onset HP:0003581
8 calf muscle pseudohypertrophy HP:0003707
9 arrhythmia HP:0011675

Drugs & Therapeutics for Becker Muscular Dystrophy

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Drug clinical trials:

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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:

31
Skeletal muscle, Heart, Testes, Prostate, Brain, Colon, Liver

Animal Models for Becker Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Becker Muscular Dystrophy:

35
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 471)
idTitleAuthorsYear
1
Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27. (25537791)
2015
2
Diagnosis of Becker muscular dystrophy: Results of re-analysis of DNA samples. (25900853)
2015
3
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study. (25873782)
2014
4
Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa. (24300647)
2013
5
Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea. (22379338)
2012
6
Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy. (22453924)
2012
7
Prenatal diagnosis of Duchenne/Becker muscular dystrophy by short tandem repeat segregation analysis in Argentine families. (21305566)
2011
8
Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients. (20153965)
2010
9
The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations. (21038378)
2010
10
Commentary on 'Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center'. (20555341)
2010
11
Cardiac involvement in Becker muscular dystrophy. (18841259)
2008
12
Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland. (17932095)
2008
13
Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients. (18646563)
2007
14
Late gadolinium enhanced cardiovascular magnetic resonance in Becker muscular dystrophy. (15310728)
2004
15
Valley sign in Becker muscular dystrophy and outliers of Duchenne and Becker muscular dystrophy. (15269471)
2004
16
Electroretinographic findings in Duchenne/Becker muscular dystrophy and correlation with genotype. (12324874)
2002
17
Carrier detection of Duchenne/Becker muscular dystrophy by analysis of STRs loci linked to the gene of dystrophin in Venezuelan families]. (12520997)
2002
18
Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy. (11418728)
2001
19
Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy. (10093987)
1999
20
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
21
Genetic polymorphism in muscle biopsies of Duchenne and Becker muscular dystrophy patients. (10514583)
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:

62
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 Variation 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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LifeMap Discovery
Genes differentially expressed in tissues of Becker Muscular Dystrophy patients vs. healthy controls: 30 (show all 18)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MYH8myosin, heavy chain 8, skeletal muscle, perinatalSkeletal Muscle+3.890.000
2PRUNE2prune homolog 2 (Drosophila)Skeletal Muscle+3.830.001
3CHRNA1cholinergic receptor, nicotinic, alpha 1 (muscle)Skeletal Muscle+3.820.000
4COL19A1collagen, type XIX, alpha 1Skeletal Muscle+3.770.000
5LRRK2leucine-rich repeat kinase 2Skeletal Muscle+3.670.001
6FSTfollistatinSkeletal Muscle+3.470.001
7CERKLceramide kinase-likeSkeletal Muscle+3.460.000
8RMDN2regulator of microtubule dynamics 2Skeletal Muscle+3.440.005
9MUSKmuscle, skeletal, receptor tyrosine kinaseSkeletal Muscle+3.220.001
10SESN3sestrin 3Skeletal Muscle+3.190.007
11CPNE8copine VIIISkeletal Muscle+3.060.001
12LOC100506082uncharacterized LOC100506082Blood-3.030.006
13TNXBtenascin XBBlood-3.020.012
14IL17Ainterleukin 17ABlood-3.010.005
15CYP3A5cytochrome P450, family 3, subfamily A, polypeptide 5Blood-3.010.040
16IQUBIQ motif and ubiquitin domain containingBlood-3.010.026
17COL4A5collagen, type IV, alpha 5Blood-3.010.002
18CSPG4chondroitin sulfate proteoglycan 4Blood-3.000.024

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:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank, 49PharmGKB
See all sources

Compounds related to Becker Muscular Dystrophy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1succinate439.7DMD, CHKB
2ornithine43 2410.6CHKB, DMD
3prednisolone43 28 1211.6CHKB, DMD
4urea43 24 1211.6DMD, CHKB
5agarose439.5DMD, CHKB
6polyacrylamide439.5DMD, CHKB
7glycerol43 24 1211.4CHKB, DMD
8tacrolimus43 49 1211.2DMD, CHKB
9creatinine438.3CHKB, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.4FKRP, DMD
2dystrophin-associated glycoprotein complexGO:00160109.1FKRP, DMD

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet