BMD
MCID: MSC152
MIFTS: 61

Muscular Dystrophy, Becker Type (BMD)

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Becker Type

MalaCards integrated aliases for Muscular Dystrophy, Becker Type:

Name: Muscular Dystrophy, Becker Type 57 53 38
Becker Muscular Dystrophy 57 38 12 53 59 75 37 29 13 6 15 73
Benign Pseudohypertrophic Muscular Dystrophy 12 53 73
Bmd 57 59 75
Becker's Muscular Dystrophy 76 53
Benign Congenital Myopathy 12 73
Becker Dystrophinopathy 53 59
Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type 57
Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type 53
Dystrophy, Muscular, Becker Type 40
Muscular Dystrophy Becker 55

Characteristics:

Orphanet epidemiological data:

59
becker muscular dystrophy
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom),1-9/100000 (Italy),1-9/100000 (Egypt),1-9/1000000 (Japan),<1/1000000 (South Africa),1-9/100000 (Ireland),1-9/100000 (Puerto rico); Age of onset: Childhood; Age of death: any age;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
usual age of onset in the 20s and 30s
survival to advanced age


HPO:

32
muscular dystrophy, becker type:
Onset and clinical course adult onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 300376
Disease Ontology 12 DOID:9883
Orphanet 59 ORPHA98895
MESH via Orphanet 45 C537666
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C0917713
MedGen 42 C0917713
MeSH 44 D020388
KEGG 37 H01964

Summaries for Muscular Dystrophy, Becker Type

OMIM : 57 The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. Loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne muscular dystrophy, a degree of mental impairment is present (Emery, 2002). As in DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness, and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness is often asymmetric; it can develop in childhood or not become evident until adult life, and can be slowly progressive or remain static. Because weakness is essentially proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy in the absence of apparent weakness (Grain et al., 2001). (300376)

MalaCards based summary : Muscular Dystrophy, Becker Type, also known as becker muscular dystrophy, is related to malignant hyperthermia and myopathy, congenital, and has symptoms including weakness An important gene associated with Muscular Dystrophy, Becker Type is DMD (Dystrophin), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy (DCM). The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are muscle weakness and elevated serum creatine phosphokinase

NIH Rare Diseases : 53 Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. It primarily affects males. The age of onset and rate of progression can vary. 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 in BMD, symptoms begin later and progress at a slower rate. There is no cure for this condition, but there is ongoing research that shows significant promise in treating the disease. Current treatment aims to relieve symptoms and improve quality of life. People with BMD may survive into their 40s or beyond.

UniProtKB/Swiss-Prot : 75 Becker muscular dystrophy: A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy.

Wikipedia : 76 Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly... more...

Related Diseases for Muscular Dystrophy, Becker Type

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

(show top 50) (show all 151)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 30.4 DMD LAMA2 PIK3C2A
2 myopathy, congenital 30.4 DMD DYSF
3 myositis 30.4 DMD DYSF PIK3C2A
4 cardiomyopathy, dilated, 3b 30.4 DMD SGCA
5 dystrophinopathies 30.4 DMD UTRN
6 glycerol kinase deficiency 30.2 DMD GK
7 bethlem myopathy 1 30.2 DMD DYSF
8 neuromuscular disease 30.2 DMD LAMA2 UTRN
9 dilated cardiomyopathy 30.2 DMD FKTN LAMA2 SGCA VCL
10 limb-girdle muscular dystrophy 29.3 DMD DYSF FKTN LAMA2 SGCA
11 muscular dystrophy 29.3 DMD DYSF FKTN LAMA2 PIK3C2A SGCA
12 muscular dystrophy, duchenne and becker type 12.0
13 macular dystrophy, vitelliform, 2 11.7
14 muscular dystrophy, duchenne type 11.6
15 trichodentoosseous syndrome 11.3
16 myotonia congenita, autosomal recessive 11.3
17 endomyocardial fibrosis 11.3
18 fukuyama type muscular dystrophy 11.2
19 myopathy 10.5
20 osteoporosis 10.5
21 osteoporotic fracture 10.4
22 spinal muscular atrophy 10.4
23 muscular atrophy 10.4
24 muscle hypertrophy 10.3
25 epilepsy 10.3
26 myotonic dystrophy 10.3
27 myotonia atrophica 10.3
28 bone mineral density quantitative trait locus 8 10.2
29 bone mineral density quantitative trait locus 15 10.2
30 cytoplasmic body myopathy 10.2 DMD UTRN
31 ischemia 10.2
32 localized lipodystrophy 10.2 DMD DYSF
33 isolated hyperckemia 10.2 DMD LAMA2
34 mcleod syndrome 10.2 DMD SGCA
35 muscular dystrophy, limb-girdle, autosomal recessive 7 10.2 DMD DYSF
36 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 DYSF SGCA
37 autosomal recessive limb-girdle muscular dystrophy type 2d 10.1 DYSF SGCA
38 myopathy, x-linked, with excessive autophagy 10.1 DMD LAMA2
39 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 DYSF SGCA
40 cardiomyopathy, dilated, 1d 10.1 DMD LAMA2
41 cardiomyopathy, dilated, 1a 10.1 DMD LAMA2
42 adrenal hypoplasia, congenital 10.1 DMD GK
43 muscular dystrophy-dystroglycanopathy , type c, 5 10.1 DYSF LAMA2
44 gas gangrene 10.1 DMD PIK3C2A
45 aging 10.1
46 stormorken syndrome 10.1 DMD DYSF
47 anterior compartment syndrome 10.1 DYSF PIK3C2A
48 microcolon 10.1 DMD VCL
49 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 DYSF FKTN
50 autosomal recessive limb-girdle muscular dystrophy 10.1 DMD DYSF SGCA

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



Diseases related to Muscular Dystrophy, Becker Type

Symptoms & Phenotypes for Muscular Dystrophy, Becker Type

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyporeflexia

Cardiovascular Heart:
cardiomyopathy, late onset

Muscle Soft Tissue:
calf muscle pseudohypertrophy
weakness
calf and thigh cramping muscle pains

Laboratory Abnormalities:
high serum creatine kinase
abnormal electrocardiogram
abnormal dystrophin on muscle biopsy


Clinical features from OMIM:

300376

Human phenotypes related to Muscular Dystrophy, Becker Type:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 Frequent (79-30%) HP:0001324
2 elevated serum creatine phosphokinase 59 32 Very frequent (99-80%) HP:0003236
3 myalgia 59 32 Very frequent (99-80%) HP:0003326
4 pes planus 59 Occasional (29-5%)
5 fatigue 59 Frequent (79-30%)
6 arrhythmia 32 HP:0011675
7 skeletal muscle atrophy 59 Occasional (29-5%)
8 elevated hepatic transaminases 59 Frequent (79-30%)
9 cardiomyopathy 32 HP:0001638
10 falls 59 Frequent (79-30%)
11 toe walking 59 Occasional (29-5%)
12 muscle cramps 59 Frequent (79-30%)
13 difficulty walking 59 Very frequent (99-80%)
14 hyporeflexia 32 HP:0001265
15 muscular dystrophy 32 HP:0003560
16 exercise intolerance 59 Very frequent (99-80%)
17 abnormality of the lower limb 59 Frequent (79-30%)
18 difficulty climbing stairs 59 Very frequent (99-80%)
19 abnormal urinary color 59 Very frequent (99-80%)
20 calf muscle pseudohypertrophy 32 HP:0003707
21 myoglobinuria 59 Very frequent (99-80%)
22 abnormal ekg 32 HP:0003115

UMLS symptoms related to Muscular Dystrophy, Becker Type:


weakness

MGI Mouse Phenotypes related to Muscular Dystrophy, Becker Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.95 DMD DYSF FKTN LAMA2 NOS1 PIK3C2A
2 growth/size/body region MP:0005378 9.87 DMD FKTN LAMA2 NOS1 PIK3C2A UTRN
3 homeostasis/metabolism MP:0005376 9.86 DMD DYSF FKTN LAMA2 NOS1 PIK3C2A
4 cardiovascular system MP:0005385 9.85 DMD NOS1 PIK3C2A SGCA UTRN VCL
5 immune system MP:0005387 9.76 DMD DYSF FKTN LAMA2 NOS1 PIK3C2A
6 muscle MP:0005369 9.56 DMD DYSF FKTN LAMA2 NOS1 SGCA
7 nervous system MP:0003631 9.17 DMD FKTN LAMA2 NOS1 PIK3C2A UTRN

Drugs & Therapeutics for Muscular Dystrophy, Becker Type

Drugs for Muscular Dystrophy, Becker Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 204)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
2
Ramipril Approved Phase 4 87333-19-5 5362129
3
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 171596-29-5 110635
4 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
5 Adrenergic alpha-1 Receptor Antagonists Phase 4
6 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
7 Adrenergic alpha-Antagonists Phase 4
8 Adrenergic Antagonists Phase 4
9 Adrenergic beta-Antagonists Phase 4
10 Adrenergic Agents Phase 4,Phase 3,Not Applicable
11 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
13
protease inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
14 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
15 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
16 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Antibiotics, Antitubercular Phase 4
19
Prednisone Approved, Vet_approved Phase 3,Phase 2,Phase 1 53-03-2 5865
20 Deflazacort Approved, Investigational Phase 3,Phase 1,Phase 2 14484-47-0
21
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
22
Benzocaine Approved, Investigational Phase 3,Not Applicable 94-09-7, 1994-09-7 2337
23 tannic acid Approved Phase 3,Not Applicable
24
Eplerenone Approved Phase 3,Not Applicable 107724-20-9 443872 150310
25
Spironolactone Approved Phase 3,Not Applicable 52-01-7, 1952-01-7 5833
26
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
27
Enalaprilat Approved Phase 3 76420-72-9 6917719
28
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
29
Lisinopril Approved, Investigational Phase 2, Phase 3,Not Applicable 83915-83-7, 76547-98-3 5362119
30
Zoledronic acid Approved Phase 3 118072-93-8 68740
31
Tamoxifen Approved Phase 3,Phase 1 10540-29-1 2733526
32
Nebivolol Approved, Investigational Phase 3 99200-09-6, 152520-56-4, 118457-14-0 71301
33
Creatine Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Not Applicable 57-00-1 586
34
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3 303-98-0 5281915
35
Epigallocatechin Experimental, Investigational Phase 2, Phase 3 970-74-1 72277
36
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
37 Hormones Phase 3,Phase 2,Phase 1,Not Applicable
38 Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
40 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
41 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
42 glucocorticoids Phase 3,Phase 2,Phase 1
43 Immunosuppressive Agents Phase 3,Phase 1
44 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
45 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Phase 1
46 Mineralocorticoids Phase 3,Not Applicable
47 Diuretics, Potassium Sparing Phase 3,Not Applicable
48 Mineralocorticoid Receptor Antagonists Phase 3,Not Applicable
49 Sodium Channel Blockers Phase 3
50 diuretics Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 253)
# Name Status NCT ID Phase Drugs
1 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
2 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
3 Tadalafil in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
4 Stacking Exercises Aid the Decline in FVC and Sick Time Completed NCT01999075 Phase 4
5 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
6 L-citrulline and Metformin in Duchenne's Muscular Dystrophy Completed NCT01995032 Phase 3 750 mg metformin and 7.5 g L-citrulline daily p.o.;Placebo
7 High-dose Prednisone in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
8 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
9 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
10 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
11 A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3 GSK2402968 6mg/kg/week
12 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
13 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
14 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
15 A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD) Completed NCT00018109 Phase 3 glutamine;creatine monohydrate
16 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
17 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
18 An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
19 An Efficacy and Safety Trial of Intravenous Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids for Chronic Inflammatory Conditions Completed NCT00799266 Phase 3 Zoledronic acid;Placebo;Zoledronic acid;Placebo
20 Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3 RO7239361;Placebo for RO7239361
21 Tamoxifen in Duchenne Muscular Dystrophy Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
22 Phase III Study With Idebenone in Patients With Duchenne Muscular Dystrophy (SIDEROS-E) Recruiting NCT03603288 Phase 3 idebenone 150 mg film-coated tablets
23 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
24 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
25 A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids Recruiting NCT02814019 Phase 3 Idebenone 150 mg film-coated tablets;placebo
26 Bisoprolol in DMD Early Cardiomyopathy Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
27 Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
28 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
29 A Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy Recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
30 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
31 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
32 Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
33 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
34 1 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Active, not recruiting NCT01197300 Phase 3 zoledronic acid
35 An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03532542 Phase 3 Casimersen;Golodirsen
36 Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD) Enrolling by invitation NCT01247207 Phase 3 Ataluren
37 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
38 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
39 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
40 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone
41 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
42 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
43 A Study of Deflazacort (Emflaza®) in Participants With Duchenne Muscular Dystrophy (DMD) Withdrawn NCT03642145 Phase 3 Deflazacort
44 Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol Withdrawn NCT01890798 Phase 3 Drisapersen
45 Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy Unknown status NCT02285673 Phase 1, Phase 2
46 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
47 Safety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy Unknown status NCT01207908 Phase 1, Phase 2 IGF-1
48 Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy Unknown status NCT01834040 Phase 1, Phase 2
49 Efficacy, Safety, and Tolerability Rollover Study of Eteplirsen in Subjects With Duchenne Muscular Dystrophy Unknown status NCT01540409 Phase 2 AVI-4658 (Eteplirsen)
50 Phase II Study of NPC-14 (Arbekacin Sulfate) to Explore Safety, Tolerability, and Efficacy in Duchenne Muscular Dystrophy Unknown status NCT01918384 Phase 2 NPC-14;Placebo

Search NIH Clinical Center for Muscular Dystrophy, Becker Type

Genetic Tests for Muscular Dystrophy, Becker Type

Genetic tests related to Muscular Dystrophy, Becker Type:

# Genetic test Affiliating Genes
1 Becker Muscular Dystrophy 29 DMD

Anatomical Context for Muscular Dystrophy, Becker Type

MalaCards organs/tissues related to Muscular Dystrophy, Becker Type:

41
Heart, Skeletal Muscle, Testes, Brain, Liver, Bone, Eye

Publications for Muscular Dystrophy, Becker Type

Articles related to Muscular Dystrophy, Becker Type:

(show top 50) (show all 580)
# Title Authors Year
1
Genotype-phenotype correlation in Becker muscular dystrophy in Chinese patients. ( 29976999 )
2018
2
Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 a8845-55). ( 29414413 )
2018
3
Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence. ( 29974322 )
2018
4
Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy-Implications for Therapies. ( 29925809 )
2018
5
Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy. ( 30326162 )
2018
6
Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy. ( 30544630 )
2018
7
Health Care Transition Experiences of Males with Childhood-onset Duchenne and Becker Muscular Dystrophy: Findings from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) Health Care Transitions and Other Life Experiences Survey. ( 30210936 )
2018
8
How Do Members of the Duchenne and Becker Muscular Dystrophy Community Perceive a Discrete-Choice Experiment Incorporating Uncertain Treatment Benefit? An Application of Research as an Event. ( 30259384 )
2018
9
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis. ( 30303263 )
2018
10
Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1. ( 30320597 )
2018
11
Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy. ( 29778277 )
2018
12
Engaging patients and caregivers in prioritizing symptoms impacting quality of life for Duchenne and Becker muscular dystrophy. ( 29804169 )
2018
13
Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine. ( 29847600 )
2018
14
Effects of single and combined metformin and L-citrulline supplementation on L-arginine-related pathways in Becker muscular dystrophy patients: possible biochemical and clinical implications. ( 30003335 )
2018
15
A novel mutation of dystrophin in a Becker muscular dystrophy family with severe cardiac involvement: from genetics to clinicopathology. ( 30103083 )
2018
16
Altered somatosensory neurovascular response in patients with Becker muscular dystrophy. ( 30106246 )
2018
17
Clinical Utility Gene Card for: Becker muscular dystrophy. ( 29467387 )
2018
18
Reply to "The Effects of Tranilast on Cardiomyopathy in Becker Muscular Dystrophy Requires Profound Cardiac and Neurologic Evaluations". ( 29491287 )
2018
19
The Effects of Tranilast on Cardiomyopathy in Becker Muscular Dystrophy Requires Profound Cardiac and Neurologic Evaluations. ( 29491311 )
2018
20
Identification of sleep hypoventilation in young individuals with Becker muscular dystrophy: A pilot study. ( 29526517 )
2018
21
Cost-Effectiveness Analysis of Diagnosis of Duchenne/Becker Muscular Dystrophy in Colombia. ( 29529586 )
2018
22
Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China. ( 29578119 )
2018
23
Duchenne and Becker muscular dystrophy in adolescents: current perspectives. ( 29588625 )
2018
24
Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation. ( 29614690 )
2018
25
Mouse models of two missense mutations in actin-binding domain 1 of dystrophin associated with Duchenne or Becker muscular dystrophy. ( 29194514 )
2018
26
Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry. ( 29196072 )
2018
27
Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy. ( 28803420 )
2018
28
[Clinical features of patients with Becker muscular dystrophy and deletions of the rod domain of dystrophin gene]. ( 29419852 )
2018
29
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. ( 28943641 )
2017
30
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy. ( 28745468 )
2017
31
Myocardial Fibrosis in Duchenne and Becker Muscular Dystrophy. ( 28492916 )
2017
32
Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene. ( 28972564 )
2017
33
[Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy]. ( 28576279 )
2017
34
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. ( 28079318 )
2017
35
A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. ( 28247318 )
2017
36
A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy. ( 28288529 )
2017
37
Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy. ( 28393671 )
2017
38
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
39
Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy. ( 28316128 )
2017
40
Myocardial Fibrosis in Duchenne and Becker Muscular Dystrophy-Reply. ( 28492933 )
2017
41
Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged a8o3 Years: A Retrospective Study. ( 28533764 )
2017
42
Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy. ( 28393376 )
2017
43
Repair of an inguinoscrotal hernia in a patient with Becker muscular dystrophy. ( 28098058 )
2017
44
The PJ Nicholoff Steroid Protocol for Duchenne and Becker Muscular Dystrophy and Adrenal Suppression. ( 28744411 )
2017
45
The ultrasound-guided nerve blocks of abdominal wall contributed to anesthetic management of cholecystectomy in a patient with Becker muscular dystrophy without using muscle relaxants. ( 29457107 )
2017
46
Muscle MRI and functional outcome measures in Becker muscular dystrophy. ( 29167533 )
2017
47
Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup. ( 28734761 )
2017
48
[Mutation analysis of 81 cases with Duchenne/Becker muscular dystrophy]. ( 27984601 )
2016
49
Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants. ( 27350676 )
2016
50
Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy. ( 27761893 )
2016

Variations for Muscular Dystrophy, Becker Type

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Becker Type:

75
# Symbol AA change Variation ID SNP ID
1 DMD p.Ala168Asp VAR_005149
2 DMD p.Tyr231Asn VAR_005150
3 DMD p.His2921Arg VAR_005170 rs1800279
4 DMD p.Ala3421Val VAR_005172
5 DMD p.Ala171Pro VAR_023539

ClinVar genetic disease variations for Muscular Dystrophy, Becker Type:

6 (show top 50) (show all 469)
# Gene Variation Type Significance SNP ID Assembly Location
1 DMD NM_004006.2(DMD): c.8944C> T (p.Arg2982Ter) single nucleotide variant Pathogenic rs128625229 GRCh37 Chromosome X, 31462738: 31462738
2 DMD NM_004006.2(DMD): c.8944C> T (p.Arg2982Ter) single nucleotide variant Pathogenic rs128625229 GRCh38 Chromosome X, 31444621: 31444621
3 DMD NM_004006.2(DMD): c.10108C> T (p.Arg3370Ter) single nucleotide variant Pathogenic rs104894787 GRCh37 Chromosome X, 31196901: 31196901
4 DMD NM_004006.2(DMD): c.10108C> T (p.Arg3370Ter) single nucleotide variant Pathogenic rs104894787 GRCh38 Chromosome X, 31178784: 31178784
5 DMD NM_004006.2(DMD): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs128626235 GRCh37 Chromosome X, 32834682: 32834682
6 DMD NM_004006.2(DMD): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs128626235 GRCh38 Chromosome X, 32816565: 32816565
7 DMD DMD, IVS19, A-C, +3 single nucleotide variant Pathogenic
8 DMD DMD, IVS57, G-C, -1 single nucleotide variant Pathogenic
9 DMD NM_004006.2(DMD): c.503C> A (p.Ala168Asp) single nucleotide variant Pathogenic rs128626236 GRCh37 Chromosome X, 32834612: 32834612
10 DMD NM_004006.2(DMD): c.503C> A (p.Ala168Asp) single nucleotide variant Pathogenic rs128626236 GRCh38 Chromosome X, 32816495: 32816495
11 DMD DMD, IVS2, G-T, -1 single nucleotide variant Pathogenic
12 DMD NM_004006.2(DMD): c.691T> A (p.Tyr231Asn) single nucleotide variant Pathogenic rs128626237 GRCh37 Chromosome X, 32717369: 32717369
13 DMD NM_004006.2(DMD): c.691T> A (p.Tyr231Asn) single nucleotide variant Pathogenic rs128626237 GRCh38 Chromosome X, 32699252: 32699252
14 DMD BMD, IVS13, G-T, -1 single nucleotide variant Pathogenic
15 DMD NM_004006.2(DMD): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic rs128626249 GRCh37 Chromosome X, 32360240: 32360240
16 DMD NM_004006.2(DMD): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic rs128626249 GRCh38 Chromosome X, 32342123: 32342123
17 DMD NM_004006.2(DMD): c.6373C> T (p.Gln2125Ter) single nucleotide variant Pathogenic rs128626251 GRCh37 Chromosome X, 32235098: 32235098
18 DMD NM_004006.2(DMD): c.6373C> T (p.Gln2125Ter) single nucleotide variant Pathogenic rs128626251 GRCh38 Chromosome X, 32216981: 32216981
19 DMD NM_004006.2(DMD): c.8762A> G (p.His2921Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1800279 GRCh37 Chromosome X, 31496398: 31496398
20 DMD NM_004006.2(DMD): c.8762A> G (p.His2921Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1800279 GRCh38 Chromosome X, 31478281: 31478281
21 DMD NM_004006.2(DMD): c.10141C> T (p.Arg3381Ter) single nucleotide variant Pathogenic rs104894790 GRCh37 Chromosome X, 31196868: 31196868
22 DMD NM_004006.2(DMD): c.10141C> T (p.Arg3381Ter) single nucleotide variant Pathogenic rs104894790 GRCh38 Chromosome X, 31178751: 31178751
23 DMD NM_004006.2(DMD): c.10262C> T (p.Ala3421Val) single nucleotide variant Uncertain significance rs104894791 GRCh37 Chromosome X, 31196049: 31196049
24 DMD NM_004006.2(DMD): c.10262C> T (p.Ala3421Val) single nucleotide variant Uncertain significance rs104894791 GRCh38 Chromosome X, 31177932: 31177932
25 DMD DMD, 1-BP DEL, 10683C deletion Pathogenic
26 DMD NM_004006.2(DMD): c.3631G> T (p.Glu1211Ter) single nucleotide variant Pathogenic rs267606771 GRCh37 Chromosome X, 32466728: 32466728
27 DMD NM_004006.2(DMD): c.3631G> T (p.Glu1211Ter) single nucleotide variant Pathogenic rs267606771 GRCh38 Chromosome X, 32448611: 32448611
28 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh37 Chromosome X, 31224780: 31224780
29 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh38 Chromosome X, 31206663: 31206663
30 DMD NM_004006.2(DMD): c.3940C> T (p.Arg1314Ter) single nucleotide variant Pathogenic rs5030730 GRCh37 Chromosome X, 32456489: 32456489
31 DMD NM_004006.2(DMD): c.3940C> T (p.Arg1314Ter) single nucleotide variant Pathogenic rs5030730 GRCh38 Chromosome X, 32438372: 32438372
32 DMD NM_004006.2(DMD): c.9225-285A> G single nucleotide variant Pathogenic rs587776747 GRCh37 Chromosome X, 31279418: 31279418
33 DMD NM_004006.2(DMD): c.9225-285A> G single nucleotide variant Pathogenic rs587776747 GRCh38 Chromosome X, 31261301: 31261301
34 DMD DMD, IVS25, A-G, +2036 single nucleotide variant Pathogenic
35 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh37 Chromosome X, 31496447: 31496447
36 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh38 Chromosome X, 31478330: 31478330
37 DMD NM_004006.2(DMD): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs398122853 GRCh37 Chromosome X, 33229421: 33229421
38 DMD NM_004006.2(DMD): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs398122853 GRCh38 Chromosome X, 33211304: 33211304
39 DMD NM_004006.2(DMD): c.10033C> T (p.Arg3345Ter) single nucleotide variant Pathogenic rs398123827 GRCh37 Chromosome X, 31198540: 31198540
40 DMD NM_004006.2(DMD): c.10033C> T (p.Arg3345Ter) single nucleotide variant Pathogenic rs398123827 GRCh38 Chromosome X, 31180423: 31180423
41 DMD NM_004006.2(DMD): c.10086+1G> A single nucleotide variant Pathogenic rs398123828 GRCh37 Chromosome X, 31198486: 31198486
42 DMD NM_004006.2(DMD): c.10086+1G> A single nucleotide variant Pathogenic rs398123828 GRCh38 Chromosome X, 31180369: 31180369
43 DMD NM_004006.2(DMD): c.1012G> T (p.Glu338Ter) single nucleotide variant Pathogenic rs398123830 GRCh37 Chromosome X, 32663218: 32663218
44 DMD NM_004006.2(DMD): c.1012G> T (p.Glu338Ter) single nucleotide variant Pathogenic rs398123830 GRCh38 Chromosome X, 32645101: 32645101
45 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh37 Chromosome X, 31196838: 31196838
46 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh38 Chromosome X, 31178721: 31178721
47 DMD NM_004019.2(DMD): c.1020G> A (p.Thr340=) single nucleotide variant Pathogenic rs398123834 GRCh37 Chromosome X, 31196785: 31196785
48 DMD NM_004019.2(DMD): c.1020G> A (p.Thr340=) single nucleotide variant Pathogenic rs398123834 GRCh38 Chromosome X, 31178668: 31178668
49 DMD NM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs) duplication Pathogenic rs398123835 GRCh37 Chromosome X, 31196053: 31196053
50 DMD NM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs) duplication Pathogenic rs398123835 GRCh38 Chromosome X, 31177936: 31177936

Expression for Muscular Dystrophy, Becker Type

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

Pathways for Muscular Dystrophy, Becker Type

GO Terms for Muscular Dystrophy, Becker Type

Cellular components related to Muscular Dystrophy, Becker Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.77 DMD NOS1 SGCA UTRN VCL
2 protein-containing complex GO:0032991 9.73 DMD NOS1 UTRN VCL
3 membrane raft GO:0045121 9.58 DMD NOS1 SGCA
4 T-tubule GO:0030315 9.46 DYSF NOS1
5 costamere GO:0043034 9.32 DMD VCL
6 filopodium membrane GO:0031527 9.26 DMD UTRN
7 sarcolemma GO:0042383 9.17 DMD DYSF LAMA2 NOS1 SGCA UTRN
8 cell-substrate junction GO:0030055 9.16 DMD VCL
9 dystrophin-associated glycoprotein complex GO:0016010 9.13 DMD SGCA UTRN
10 membrane GO:0016020 10.13 DMD DYSF FKTN GK NOS1 PIK3C2A

Biological processes related to Muscular Dystrophy, Becker Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.46 DYSF SGCA UTRN VCL
2 skeletal muscle tissue regeneration GO:0043403 9.43 DMD DYSF SGCA
3 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.4 DMD NOS1
4 glycerol metabolic process GO:0006071 9.37 DYSF GK
5 muscle fiber development GO:0048747 9.32 DMD DYSF
6 response to denervation involved in regulation of muscle adaptation GO:0014894 9.13 DMD SGCA UTRN
7 muscle organ development GO:0007517 9.02 DMD FKTN LAMA2 SGCA UTRN

Molecular functions related to Muscular Dystrophy, Becker Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.33 DMD UTRN VCL
2 vinculin binding GO:0017166 8.96 DMD UTRN
3 dystroglycan binding GO:0002162 8.62 DMD VCL

Sources for Muscular Dystrophy, Becker Type

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