MCID: MSC152
MIFTS: 60

Muscular Dystrophy, Becker Type

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


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 muscular dystrophy, duchenne type and myopathy, and has symptoms including weakness An important gene associated with Muscular Dystrophy, Becker Type is DMD (Dystrophin), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and bone, and related phenotypes are difficulty walking and myoglobinuria

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.

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.

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 57)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, duchenne type 32.6 DMD MIR146B MIR221
2 myopathy 28.4 DMD DYSF LAMA2 SGCA UTRN
3 muscular dystrophy 27.0 DMD DYSF FKTN LAMA2 SGCA UTRN
4 muscular dystrophy, duchenne and becker type 11.9
5 macular dystrophy, vitelliform, 2 11.6
6 trichodentoosseous syndrome 11.2
7 cytoplasmic body myopathy 10.6 DMD UTRN
8 cardiomyopathy, dilated, 3b 10.5 DMD SGCA
9 dystrophinopathies 10.5 DMD UTRN
10 dermatomyositis 10.5 MIR146B MIR221
11 isolated hyperckemia 10.5 DMD LAMA2
12 mcleod syndrome 10.5 DMD SGCA
13 localized lipodystrophy 10.4 DMD DYSF
14 creatine phosphokinase, elevated serum 10.4 DMD LAMA2
15 microcolon 10.4 DMD VCL
16 myopathy, x-linked, with excessive autophagy 10.4 DMD LAMA2
17 cardiomyopathy, dilated, 1d 10.3 DMD LAMA2
18 cardiomyopathy, dilated, 1a 10.3 DMD LAMA2
19 facioscapulohumeral muscular dystrophy 1 10.3 DMD MIR146B MIR221
20 autosomal recessive limb-girdle muscular dystrophy type 2f 10.3 DYSF SGCA
21 chromosome xp21 deletion syndrome 10.3 DMD GK
22 autosomal recessive limb-girdle muscular dystrophy type 2b 10.2 DYSF SGCA
23 osteoporosis 10.2
24 muscular dystrophy, limb-girdle, type 2d 10.2 DYSF SGCA
25 muscular dystrophy, limb-girdle, type 2a 10.2 MIR146B MIR221
26 stormorken syndrome 10.2 DMD DYSF
27 adrenal hypoplasia, congenital 10.2 DMD GK
28 distal muscular dystrophy 10.2 DMD DYSF
29 aging 10.2
30 osteoporotic fracture 10.1
31 glycerol kinase deficiency 10.1 DMD GK
32 muscular dystrophy-dystroglycanopathy , type c, 5 10.1 DYSF LAMA2
33 neuromuscular disease 10.1 DMD LAMA2 UTRN
34 aland island eye disease 10.0 DMD GK
35 muscular dystrophy, limb-girdle, type 2c 10.0 DMD DYSF SGCA
36 muscular dystrophy, limb-girdle, type 2f 10.0 DMD DYSF SGCA
37 muscular dystrophy, limb-girdle, type 2b 10.0 DMD DYSF SGCA
38 autosomal recessive limb-girdle muscular dystrophy 10.0 DMD DYSF SGCA
39 bethlem myopathy 1 10.0 DMD DYSF
40 myopathy, congenital 10.0
41 rigid spine muscular dystrophy 1 9.9 DMD DYSF LAMA2
42 congenital fiber-type disproportion 9.8 DMD DYSF
43 inclusion body myositis 9.8 MIR146B MIR221
44 muscular dystrophy, limb-girdle, type 2l 9.8 DYSF FKTN
45 cardiomyopathy, dilated, 1b 9.6 DMD FKTN LAMA2
46 muscular dystrophy, congenital, 1b 9.6 DMD FKTN LAMA2
47 muscular dystrophy-dystroglycanopathy , type b, 6 9.6 DMD FKTN LAMA2
48 muscular dystrophy-dystroglycanopathy , type a, 4 9.6 DMD FKTN LAMA2
49 muscular dystrophy-dystroglycanopathy , type b, 5 9.6 DMD FKTN LAMA2
50 muscular dystrophy, congenital, lmna-related 9.6 FKTN LAMA2

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 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
2 myoglobinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002913
3 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
4 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
5 exercise intolerance 59 32 hallmark (90%) Very frequent (99-80%) HP:0003546
6 difficulty climbing stairs 59 32 hallmark (90%) Very frequent (99-80%) HP:0003551
7 abnormal urinary color 59 32 hallmark (90%) Very frequent (99-80%) HP:0012086
8 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
9 falls 59 32 frequent (33%) Frequent (79-30%) HP:0002527
10 elevated hepatic transaminases 59 32 frequent (33%) Frequent (79-30%) HP:0002910
11 muscle cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003394
12 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
13 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
14 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
15 toe walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0040083
16 abnormality of the lower limb 59 Frequent (79-30%)
17 hyporeflexia 32 HP:0001265
18 cardiomyopathy 32 HP:0001638
19 muscular dystrophy 32 HP:0003560
20 calf muscle pseudohypertrophy 32 HP:0003707
21 arrhythmia 32 HP:0011675

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 muscle MP:0005369 9.17 DMD DYSF FKTN LAMA2 SGCA 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 198)
# 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 Adrenergic Agents Phase 4,Phase 3,Not Applicable
5 Adrenergic alpha-1 Receptor Antagonists Phase 4
6 Adrenergic alpha-Antagonists Phase 4
7 Adrenergic Antagonists Phase 4
8 Adrenergic beta-Antagonists Phase 4
9 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
11 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
13 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
14
protease inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
15 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
16 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Phosphodiesterase 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 1,Phase 2 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 1994-09-7, 94-09-7 2337
23
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
24
Enalaprilat Approved Phase 3 76420-72-9 6917719
25
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
26
Lisinopril Approved, Investigational Phase 2, Phase 3,Not Applicable 83915-83-7, 76547-98-3 5362119
27
Zoledronic acid Approved Phase 3 118072-93-8 68740
28
Eplerenone Approved Phase 3,Not Applicable 107724-20-9 150310 443872
29
Spironolactone Approved Phase 3,Not Applicable 1952-01-7, 52-01-7 5833
30
Tamoxifen Approved Phase 3,Phase 1 10540-29-1 2733526
31
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
32 tannic acid Approved, Nutraceutical Phase 3
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 gallate Investigational Phase 2, Phase 3 989-51-5 65064
36 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
37 diuretics Phase 3,Phase 1,Not Applicable
38 Natriuretic Agents Phase 3,Phase 1,Not Applicable
39 glucocorticoids Phase 3,Phase 2,Phase 1
40 Immunosuppressive Agents Phase 3,Phase 1
41 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
42 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Phase 1
43 Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
44 Hormones Phase 3,Phase 2,Phase 1,Not Applicable
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
46 Antioxidants Phase 3,Phase 2,Phase 1
47 Micronutrients Phase 3,Phase 2,Not Applicable
48 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
49 Trace Elements Phase 3,Phase 2,Not Applicable
50 Ubiquinone Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 234)
# 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 Active, not recruiting 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 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
9 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
10 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
11 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
12 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
13 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
14 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
15 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
16 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
17 Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of BMS-986089 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3
18 Tamoxifen in Duchenne Muscular Dystrophy Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
19 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
20 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
21 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
22 Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
23 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
24 1 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Recruiting NCT01197300 Phase 3 zoledronic acid
25 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
26 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3 Eplerenone;Spironolactone
27 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
28 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
29 Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
30 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
31 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3 Ataluren
32 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3 Ataluren
33 An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy Not yet recruiting NCT03532542 Phase 3 Casimersen;Golodirsen
34 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
35 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
36 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
37 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone
38 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
39 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
40 Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol Withdrawn NCT01890798 Phase 3 Drisapersen
41 Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy Unknown status NCT02285673 Phase 1, Phase 2
42 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
43 Safety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy Unknown status NCT01207908 Phase 1, Phase 2 IGF-1
44 Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy Unknown status NCT01834040 Phase 1, Phase 2
45 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
46 Study Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Muscular Dystrophy. Unknown status NCT01834066 Phase 1, Phase 2
47 A Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT02760264 Phase 2 Vamorolone 0.25 mg/kg/day;Vamorolone 0.75 mg/kg/day;Vamorolone 2.0 mg/kg/day;Vamorolone 6.0 mg/kg/day
48 An Extension Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT02760277 Phase 2 Vamorolone 0.25 mg/day/day;Vamorolone 0.75 mg/day/day;Vamorolone 2.0 mg/day/day;Vamorolone 6.0 mg/day/day
49 L-citrulline and Metformin in Becker's Muscular Dystrophy Completed NCT02018731 Phase 2 Metformin and Metformin & L-Citrulline;L-Citrulline and Metformin & L-Citrulline
50 (-)- Epicatechin Becker Muscular Dystrophy Completed NCT03236662 Phase 2 (-)-Epicatechin

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, Testes, Bone, Skeletal Muscle, Brain, Cortex, Colon

Publications for Muscular Dystrophy, Becker Type

Articles related to Muscular Dystrophy, Becker Type:

(show top 50) (show all 567)
# 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
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. ( 28943641 )
2017
6
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy. ( 28745468 )
2017
7
Myocardial Fibrosis in Duchenne and Becker Muscular Dystrophy. ( 28492916 )
2017
8
Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene. ( 28972564 )
2017
9
[Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy]. ( 28576279 )
2017
10
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. ( 28079318 )
2017
11
A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. ( 28247318 )
2017
12
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies. ( 27750387 )
2017
13
A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy. ( 28288529 )
2017
14
Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy. ( 28393671 )
2017
15
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
16
Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy. ( 28316128 )
2017
17
Myocardial Fibrosis in Duchenne and Becker Muscular Dystrophy-Reply. ( 28492933 )
2017
18
Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged a8o3 Years: A Retrospective Study. ( 28533764 )
2017
19
Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy. ( 28393376 )
2017
20
Repair of an inguinoscrotal hernia in a patient with Becker muscular dystrophy. ( 28098058 )
2017
21
The PJ Nicholoff Steroid Protocol for Duchenne and Becker Muscular Dystrophy and Adrenal Suppression. ( 28744411 )
2017
22
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
23
Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy. ( 28803420 )
2017
24
[Mutation analysis of 81 cases with Duchenne/Becker muscular dystrophy]. ( 27984601 )
2016
25
Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants. ( 27350676 )
2016
26
Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy. ( 27761893 )
2016
27
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. ( 27582364 )
2016
28
Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies. ( 26974331 )
2016
29
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. ( 27593222 )
2016
30
Guidelines for the Perianesthesia Care of the Duchenne Muscular Dystrophy/Becker Muscular Dystrophy Patient. ( 27931703 )
2016
31
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. ( 26718981 )
2016
32
Dystrophin Hot-Spot Mutants Leading to Becker Muscular Dystrophy Insert More Deeply into Membrane Models than the Native Protein. ( 27367833 )
2016
33
A Case of Refractory Heart Failure in Becker Muscular Dystrophy Improved With Corticosteroid Therapy. ( 27535714 )
2016
34
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript. ( 27616544 )
2016
35
Errata: Therapeutic Strategy for Heart Failure in Becker Muscular Dystrophy. ( 27916789 )
2016
36
Effects of Sildenafil on Cerebrovascular Reactivity in Patients with Becker Muscular Dystrophy. ( 27485237 )
2016
37
Rehabilitative technology use among individuals with Duchenne/Becker muscular dystrophy. ( 26966800 )
2016
38
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. ( 26911353 )
2016
39
A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene. ( 27955624 )
2016
40
Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico. ( 27854217 )
2016
41
Left ventricular hypertrophy: A rare cardiac involvement of Becker muscular dystrophy. ( 27742039 )
2016
42
Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet. ( 26966795 )
2016
43
Cardiomyopathy in becker muscular dystrophy: Overview. ( 27354892 )
2016
44
Therapeutic Strategy for Heart Failure in Becker Muscular Dystrophy. ( 27593540 )
2016
45
Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I. ( 27463532 )
2016
46
Extensive Functional Evaluations to Monitor Aerobic Training in Becker Muscular Dystrophy: A Case Report. ( 27478558 )
2016
47
The 6-minute walk test, motor function measure and quantitative thigh muscle MRI in Becker muscular dystrophy: A cross-sectional study. ( 27209345 )
2016
48
Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial. ( 27926769 )
2016
49
Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy. ( 27863875 )
2016
50
A Novel Mutation in DMD (c.10797+5G&amp;gt;A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability. ( 26836830 )
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 443)
# 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.10141C> T (p.Arg3381Ter) single nucleotide variant Pathogenic rs104894790 GRCh37 Chromosome X, 31196868: 31196868
20 DMD NM_004006.2(DMD): c.10141C> T (p.Arg3381Ter) single nucleotide variant Pathogenic rs104894790 GRCh38 Chromosome X, 31178751: 31178751
21 DMD DMD, 1-BP DEL, 10683C deletion Pathogenic
22 DMD NM_004006.2(DMD): c.3631G> T (p.Glu1211Ter) single nucleotide variant Pathogenic rs267606771 GRCh37 Chromosome X, 32466728: 32466728
23 DMD NM_004006.2(DMD): c.3631G> T (p.Glu1211Ter) single nucleotide variant Pathogenic rs267606771 GRCh38 Chromosome X, 32448611: 32448611
24 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh37 Chromosome X, 31224780: 31224780
25 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh38 Chromosome X, 31206663: 31206663
26 DMD NM_004006.2(DMD): c.3940C> T (p.Arg1314Ter) single nucleotide variant Pathogenic rs5030730 GRCh37 Chromosome X, 32456489: 32456489
27 DMD NM_004006.2(DMD): c.3940C> T (p.Arg1314Ter) single nucleotide variant Pathogenic rs5030730 GRCh38 Chromosome X, 32438372: 32438372
28 DMD NM_004006.2(DMD): c.9225-285A> G single nucleotide variant Pathogenic rs587776747 GRCh37 Chromosome X, 31279418: 31279418
29 DMD NM_004006.2(DMD): c.9225-285A> G single nucleotide variant Pathogenic rs587776747 GRCh38 Chromosome X, 31261301: 31261301
30 DMD DMD, IVS25, A-G, +2036 single nucleotide variant Pathogenic
31 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh37 Chromosome X, 31496447: 31496447
32 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh38 Chromosome X, 31478330: 31478330
33 DMD NM_004006.2(DMD): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs398122853 GRCh37 Chromosome X, 33229421: 33229421
34 DMD NM_004006.2(DMD): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs398122853 GRCh38 Chromosome X, 33211304: 33211304
35 DMD NM_004006.2(DMD): c.10033C> T (p.Arg3345Ter) single nucleotide variant Pathogenic rs398123827 GRCh37 Chromosome X, 31198540: 31198540
36 DMD NM_004006.2(DMD): c.10033C> T (p.Arg3345Ter) single nucleotide variant Pathogenic rs398123827 GRCh38 Chromosome X, 31180423: 31180423
37 DMD NM_004006.2(DMD): c.10086+1G> A single nucleotide variant Pathogenic rs398123828 GRCh37 Chromosome X, 31198486: 31198486
38 DMD NM_004006.2(DMD): c.10086+1G> A single nucleotide variant Pathogenic rs398123828 GRCh38 Chromosome X, 31180369: 31180369
39 DMD NM_004006.2(DMD): c.1012G> T (p.Glu338Ter) single nucleotide variant Pathogenic rs398123830 GRCh37 Chromosome X, 32663218: 32663218
40 DMD NM_004006.2(DMD): c.1012G> T (p.Glu338Ter) single nucleotide variant Pathogenic rs398123830 GRCh38 Chromosome X, 32645101: 32645101
41 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh37 Chromosome X, 31196838: 31196838
42 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh38 Chromosome X, 31178721: 31178721
43 DMD NM_004019.2(DMD): c.1020G> A (p.Thr340=) single nucleotide variant Pathogenic rs398123834 GRCh37 Chromosome X, 31196785: 31196785
44 DMD NM_004019.2(DMD): c.1020G> A (p.Thr340=) single nucleotide variant Pathogenic rs398123834 GRCh38 Chromosome X, 31178668: 31178668
45 DMD NM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs) duplication Pathogenic rs398123835 GRCh37 Chromosome X, 31196053: 31196053
46 DMD NM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs) duplication Pathogenic rs398123835 GRCh38 Chromosome X, 31177936: 31177936
47 DMD NM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs) deletion Pathogenic rs398123837 GRCh37 Chromosome X, 31187666: 31187667
48 DMD NM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs) deletion Pathogenic rs398123837 GRCh38 Chromosome X, 31169549: 31169550
49 DMD NM_004006.2(DMD): c.10454delT (p.Leu3485Argfs) deletion Pathogenic rs398123839 GRCh37 Chromosome X, 31187659: 31187659
50 DMD NM_004006.2(DMD): c.10454delT (p.Leu3485Argfs) deletion Pathogenic rs398123839 GRCh38 Chromosome X, 31169542: 31169542

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 costamere GO:0043034 9.32 DMD VCL
2 filopodium membrane GO:0031527 9.26 DMD UTRN
3 cell-substrate junction GO:0030055 9.16 DMD VCL
4 dystrophin-associated glycoprotein complex GO:0016010 9.13 DMD SGCA UTRN
5 sarcolemma GO:0042383 9.1 DMD DYSF LAMA2 SGCA UTRN VCL

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 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.32 MIR146B MIR221
3 skeletal muscle tissue regeneration GO:0043403 9.26 DMD SGCA
4 response to denervation involved in regulation of muscle adaptation GO:0014894 9.13 DMD SGCA UTRN
5 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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