BMD
MCID: MSC152
MIFTS: 63

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 56 52 37
Becker Muscular Dystrophy 56 12 52 58 73 36 29 13 6 15 71
Benign Pseudohypertrophic Muscular Dystrophy 12 52 71
Bmd 56 58 73
Becker's Muscular Dystrophy 74 52
Benign Congenital Myopathy 12 71
Becker Dystrophinopathy 52 58
Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type 56
Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type 52
Dystrophy, Muscular, Becker Type 39
Muscular Dystrophy Becker 54

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
x-linked recessive

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


HPO:

31
muscular dystrophy, becker type:
Onset and clinical course adult onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:9883
OMIM 56 300376
KEGG 36 H01964
MeSH 43 D020388
SNOMED-CT 67 193222002
MESH via Orphanet 44 C537666
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C0917713
Orphanet 58 ORPHA98895
MedGen 41 C0917713
UMLS 71 C0699741 C0917713 C3490459

Summaries for Muscular Dystrophy, Becker Type

OMIM : 56 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 dystrophinopathies and cardiomyopathy, dilated, 3b, and has symptoms including weakness An important gene associated with Muscular Dystrophy, Becker Type is DMD (Dystrophin), and among its related pathways/superpathways are Allograft rejection and nNOS Signaling in Skeletal Muscle. 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 elevated serum creatine kinase and myalgia

Disease Ontology : 12 A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has material basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21.

NIH Rare Diseases : 52 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.

KEGG : 36 Becker muscular dystrophy (BMD) is a X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. In Becker muscular dystrophy, the distribution of muscle wasting and weakness is closely similar to that in Duchenne muscular dystrophy [DS:H01963], but the course of the disease is more benign.

UniProtKB/Swiss-Prot : 73 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 : 74 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 345)
# Related Disease Score Top Affiliating Genes
1 dystrophinopathies 33.4 UTRN DMD
2 cardiomyopathy, dilated, 3b 32.6 UTRN SSPN SGCA FKTN DYSF DMD
3 muscular dystrophy, duchenne type 31.4 VCL UTRN SGCA PIK3C2A NOS1 MIR221
4 atrial standstill 1 31.4 UTRN SGCA MIR378A FKRP DMD
5 malignant hyperthermia 30.9 PIK3C2A LAMA2 DYSF DMD
6 polymyositis 30.9 MIR221 MIR146B
7 inclusion body myositis 30.9 MIR221 MIR146B DYSF
8 progressive muscular dystrophy 30.8 SGCA NOS1 DMD
9 respiratory failure 30.8 PIK3C2A LAMA2 FKRP DMD
10 myositis 30.8 PIK3C2A DYSF DMD CAPN3
11 dilated cardiomyopathy 30.7 VCL SGCG SGCA LAMA2 FKTN FKRP
12 dermatomyositis 30.6 PIK3C2A MIR221 MIR146B
13 gas gangrene 30.6 PIK3C2A DMD DAG1
14 glycogen storage disease ii 30.5 FKRP DMD CAPN3
15 myocarditis 30.2 PIK3C2A DMD DAG1
16 hypertrophic cardiomyopathy 29.9 VCL SGCG SGCA PIK3C2A LAMA2 FKTN
17 facioscapulohumeral muscular dystrophy 1 29.6 SGCG SGCA MIR221 MIR146B FKRP DYSF
18 muscular dystrophy-dystroglycanopathy , type c, 5 29.5 SGCG SGCA LAMA2 FKTN FKRP DYSF
19 miyoshi muscular dystrophy 29.4 SGCG SGCA PIK3C2A FKRP DYSF DMD
20 limb-girdle muscular dystrophy 29.2 SGCG SGCA LAMA2 FKTN FKRP DYSF
21 autosomal recessive limb-girdle muscular dystrophy 28.9 SGCG SGCA LAMA2 FKTN FKRP DYSF
22 neuromuscular disease 28.9 VCL UTRN SYNC SGCG SGCA LAMA2
23 bethlem myopathy 1 28.8 UTRN SSPN SGCG SGCA LAMA2 FKTN
24 muscular disease 28.4 UTRN SGCG SGCA PIK3C2A MIR378A MIR221
25 myopathy 28.1 UTRN SYNC SGCG SGCA PIK3C2A NOS1
26 muscular dystrophy 28.0 VCL UTRN SYNC SSPN SGCG SGCA
27 macular dystrophy, vitelliform, 2 11.9
28 osteoporosis 11.9
29 myotonia congenita, autosomal recessive 11.5
30 endomyocardial fibrosis 11.5
31 trichodentoosseous syndrome 11.4
32 fukuyama type muscular dystrophy 11.4
33 bone mineral density quantitative trait locus 8 10.9
34 bone mineral density quantitative trait locus 15 10.9
35 muscular atrophy 10.8
36 bone resorption disease 10.6
37 bone mineral density quantitative trait locus 3 10.6
38 spinal muscular atrophy 10.6
39 localized lipodystrophy 10.5 DYSF DMD
40 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.5
41 cytoplasmic body myopathy 10.5 UTRN DMD
42 nr0b1-related adrenal hypoplasia congenita 10.5 GK DMD
43 chromosome xp21 deletion syndrome 10.5 GK DMD
44 microcolon 10.4 VCL DMD
45 muscle hypertrophy 10.4
46 cardiac arrest 10.4
47 myotonic dystrophy 10.4
48 congenital muscular dystrophy-dystroglycanopathy a14 10.4 LAMA2 DAG1
49 miyoshi muscular dystrophy 1 10.4 MIR221 MIR146B DYSF
50 congenital muscular dystrophy without intellectual disability 10.4 FKTN FKRP

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

Human phenotypes related to Muscular Dystrophy, Becker Type:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
2 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
3 abnormal urinary color 58 31 hallmark (90%) Very frequent (99-80%) HP:0012086
4 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
5 difficulty climbing stairs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003551
6 exercise intolerance 58 31 hallmark (90%) Very frequent (99-80%) HP:0003546
7 myoglobinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002913
8 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
9 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
10 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
11 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
12 falls 58 31 frequent (33%) Frequent (79-30%) HP:0002527
13 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
14 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
15 toe walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0040083
16 arrhythmia 31 HP:0011675
17 hyporeflexia 31 HP:0001265
18 abnormality of the lower limb 58 Frequent (79-30%)
19 muscular dystrophy 31 HP:0003560
20 cardiomyopathy 31 HP:0001638
21 abnormal ekg 31 HP:0003115
22 calf muscle pseudohypertrophy 31 HP:0003707

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Muscular Dystrophy, Becker Type:


weakness

MGI Mouse Phenotypes related to Muscular Dystrophy, Becker Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 CAPN3 DAG1 DMD FKRP NOS1 PIK3C2A
2 growth/size/body region MP:0005378 10.07 B3GNT2 CAPN3 DAG1 DMD FKRP FKTN
3 cellular MP:0005384 10.06 B3GNT2 DAG1 DMD FKRP FKTN GK
4 homeostasis/metabolism MP:0005376 10 CAPN3 DAG1 DMD DYSF FKRP FKTN
5 immune system MP:0005387 9.7 B3GNT2 DMD DYSF FKRP FKTN LAMA2
6 muscle MP:0005369 9.47 CAPN3 DAG1 DMD DYSF FKRP FKTN

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 61)
# 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 171596-29-5 110635
4
Sodium citrate Approved, Investigational Phase 4 68-04-2
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
9 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
10
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
12 Adrenergic beta-Antagonists Phase 4
13 Adrenergic alpha-Antagonists Phase 4
14 Adrenergic Agents Phase 4
15 Antioxidants Phase 4
16 Adrenergic Antagonists Phase 4
17 Adrenergic alpha-1 Receptor Antagonists Phase 4
18 Neurotransmitter Agents Phase 4
19 Calcium, Dietary Phase 4
20 calcium channel blockers Phase 4
21 Anti-Inflammatory Agents Phase 4
22 Phosphodiesterase 5 Inhibitors Phase 4
23 Phosphodiesterase Inhibitors Phase 4
24 Vasodilator Agents Phase 4
25 Citrate Phase 4
26 Sildenafil Citrate Phase 4 171599-83-0
27 Hormones Phase 4
28 Protective Agents Phase 4
29 Antineoplastic Agents, Hormonal Phase 4
30 Methylprednisolone Acetate Phase 4
31 Hormone Antagonists Phase 4
32 glucocorticoids Phase 4
33 Antiemetics Phase 4
34 Neuroprotective Agents Phase 4
35 Gastrointestinal Agents Phase 4
36
Calcium Nutraceutical Phase 4 7440-70-2 271
37
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
38
Enalaprilat Approved Phase 3 76420-72-9 6917719
39 Angiotensin-Converting Enzyme Inhibitors Phase 3
40 Antihypertensive Agents Phase 3
41 HIV Protease Inhibitors Phase 3
42
protease inhibitors Phase 3
43
Metformin Approved Phase 2 657-24-9 14219 4091
44
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
45 Hypoglycemic Agents Phase 2
46 Tea Phase 1, Phase 2
47
Sargramostim Approved, Investigational Phase 1 83869-56-1, 123774-72-1
48
Lenograstim Approved, Investigational Phase 1 135968-09-1
49 Molgramostim Investigational Phase 1 99283-10-0
50
Epicatechin Investigational Phase 1 490-46-0, 35323-91-2 72276

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 Effects of Cardioprotective Therapy, Carvedilol vs Ramipril, in Patients Affected by Duchenne and Becker Muscular Dystrophy. Clinical Significance and Prognostic Value of Cardiac Magnetic Resonance Study. Unknown status NCT00819845 Phase 4 carvedilol;ramipril
2 Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
3 A Comparative Study of Strategies for Management of Duchenne Myopathy in Assiut University Children Hospital Not yet recruiting NCT03633565 Phase 4 Sildenafil (Phosphodiesterase inhibitors);Prednisolone (Steroids)
4 An Open-Label Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
5 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Completed NCT02147639 Phase 2, Phase 3
6 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
7 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
8 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
9 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
10 An Open-Label, Safety Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren
11 A Phase 2b Extension Study of Ataluren (PTC124) in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
12 Study Safety and Efficacy of of AUTOLOGOUS Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) for the Patient With Duchenne Muscular Dystrophy. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01834040 Phase 1, Phase 2
13 Pilot Study to Assess the Efficacy of L-Citrulline and Metformin in Adults With Becker's Muscular Dystrophy Completed NCT02018731 Phase 2 Metformin and Metformin & L-Citrulline;L-Citrulline and Metformin & L-Citrulline
14 A Phase 2B Efficacy and Safety Study of PTC124 in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy Completed NCT00592553 Phase 2 Ataluren;Placebo
15 Does Modulation of the nNOS System in Patients With Muscular Dystrophy and Defect nNOS Signalling Affect Cardiac, Muscular or Cognitive Function? Completed NCT01350154 Phase 2 Sildenafil;Placebo
16 An Open-label, Un-controlled, Single-centre Trial Investigating the Efficacy and Safety of CRD007 in Children With Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD) or Children Being Symptomatic Carriers for DMD or BMD Completed NCT01540604 Phase 2 CRD007
17 An Open-label Pilot Study of Purified Tea-derived Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy. Completed NCT01856868 Phase 1, Phase 2 (-)-epicatechin
18 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
19 UCD0115B: An Open-label Extension Study of Purified Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy Completed NCT03236662 Phase 2 (-)-Epicatechin
20 A Randomised, Double Blind, Placebo Controlled Study to Evaluate the Micro-macroscopic Effects on Muscles, the Safety and Tolerability, and the Efficacy of Givinostat in Patients With Becker Muscular Dystrophy (BMD) Recruiting NCT03238235 Phase 2 givinostat;placebo
21 Open Label Safety and Efficacy of Once Weekly Steroid in Patients With LGMD and Becker Muscular Dystrophy Active, not recruiting NCT04054375 Phase 2 Prednisone
22 A Phase 2a Study of Ataluren (PTC124) in Nonambulatory Patients With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy Terminated NCT01009294 Phase 2 Ataluren (PTC124)
23 Phase 2 Clinical Trial of Sildenafil for Cardiac Dysfunction in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Terminated NCT01168908 Phase 2 Sildenafil
24 Sodium Nitrate to Improve Blood Flow Completed NCT02847975 Phase 1
25 Sodium Nitrate for Muscular Dystrophy Completed NCT02434627 Phase 1 Sodium Nitrate
26 Phase I Clinical Intramuscular Gene Transfer of rAAV1.CMV.huFollistatin344 Trial to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis. Completed NCT01519349 Phase 1
27 Pilot Study: To Assess the Safety, Tolerability and Effects of L-Arginine on Muscles in Boys With Dystrophinopathy on Corticosteroids Completed NCT01388764 Phase 1 L-arginine
28 Gentamicin Treatment of Patients With Muscular Dystrophy Due to Nonsense Mutations in Dystrophin Completed NCT00005574 Phase 1 Gentamicin
29 Safety and Feasibility of Transvenous Limb Perfusion With Normal Saline in Human Muscular Dystrophy Completed NCT00873782 Phase 1
30 Efficacy and the Safety of Granulocyte Colony-stimulating Factor Treatment in Children and Adolescents With Muscular Dystrophy: An Open Study Recruiting NCT02814110 Phase 1 Granulocyte colony-stimulating factor (Filgrastim)
31 A Phase 1, Open-label, Dose Escalation Study to Evaluate the Safety and Preliminary Efficacy of Orally Administered (+)-Epicatechin in Patients With Becker or Becker-like Muscular Dystrophy With Continued Ambulation Past 16 Years of Age Not yet recruiting NCT04386304 Phase 1 (+)-Epicatechin
32 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
33 PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping Unknown status NCT01539772
34 Prospective Cohort Study of Patients With Mutations in the Dystrophin Gene (X Linked Dilated Cardiomyopathy and Becker Muscular Dystrophy) Unknown status NCT02020954
35 Quantification of Muscle Specific microRNAs in the Serum of Patients With Duchenne Muscular Dystrophy (DMD) and Becker (BMD) : Evaluation of the Inters-est of These Biomarkers in Patients Care Unknown status NCT02109692
36 Effect of Eicosapentaenoic Fatty Acid (EPA) and Docosahexaenoic Fatty Acids (DHA) Supplementation on the Inflammation State and Metabolic Disorders in Patients With Duchenne Muscular Dystrophy or Becker Muscular Dystrophy Completed NCT01826422
37 Acceptance and Commitment Therapy for Muscle Disease Completed NCT02810028
38 Muscle MRI Study of Patients With Becker Muscular Dystrophy and Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
39 Where Does Hope Fit In? The Relationship Between Hope, Uncertainty, and Coping Efficacy in Mothers of Children With Duchenne/Becker Muscular Dystrophy Completed NCT02194725
40 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
41 LARA: Use of JACO2 Controlled by Joystick or by Voice Control System, in Muscular Dystrophy Completed NCT04313049
42 A Registered Cohort Study on Duchenne Muscular Dystrophy Recruiting NCT04012671
43 The Duchenne Registry: An International, Patient-Report Registry for Individuals With Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network) Recruiting NCT02069756
44 Study of the Correlation Between Muscle Oxygenation and Motor Function in Children With Neuromuscular Disease. Recruiting NCT03471676
45 Pilot Study of Cardiac Magnetic Resonance in Patients With Muscular Dystrophy Recruiting NCT02921321
46 Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members Recruiting NCT00390104
47 Cardiac Involvement in Patients With Duchenne/Becker Muscular Dystrophy Active, not recruiting NCT02470962
48 Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) Active, not recruiting NCT02972580
49 Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases Enrolling by invitation NCT04349566
50 Effectiveness of a Multimodal Physiotherapy Program With Virtual Reality Glasses in Duchenne and Becker. Enrolling by invitation NCT03879304

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:

40
Heart, Skeletal Muscle, Testes, Brain, Bone, Skin, Retina

Publications for Muscular Dystrophy, Becker Type

Articles related to Muscular Dystrophy, Becker Type:

(show top 50) (show all 1524)
# Title Authors PMID Year
1
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. 61 54 6
12754707 2003
2
Fatal rhabdomyolysis complicating general anaesthesia in a child with Becker muscular dystrophy. 56 61 54
1822795 1991
3
Homozygous female Becker muscular dystrophy. 56 61
19396825 2009
4
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. 6 61
19206170 2009
5
Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. 6 61
16322188 2005
6
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. 61 56
16077730 2005
7
Rapid direct sequence analysis of the dystrophin gene. 61 6
12632325 2003
8
Dystrophinopathies 6 61
20301298 2000
9
Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy. 61 56
10093987 1999
10
Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. 61 6
9410897 1997
11
A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy. 6 61
8279470 1994
12
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. 6 61
7951253 1994
13
Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin. 56 61
8282827 1994
14
Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene. 6 61
8301652 1993
15
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. 56 61
8223790 1993
16
Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation. 6 61
8322822 1993
17
Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain? 61 56
8445617 1993
18
Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy. 56 61
1757094 1991
19
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. 61 56
2063877 1991
20
Becker muscular dystrophy: correlation of deletion type with clinical severity. 61 56
2325103 1990
21
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. 56 61
2404210 1990
22
A normal male with an inherited deletion of one exon within the DMD gene. 56 61
2404853 1990
23
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. 56 61
3384440 1988
24
Population data on benign and severe forms of X-linked muscular dystrophy. 61 56
3557448 1987
25
Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome. 56 61
2989525 1985
26
Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids. 61 56
2984927 1985
27
Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9). 56 61
2993155 1985
28
Genetic counseling in Becker type X-linked muscular dystrophy. II: Practical considerations. 56 61
6486170 1984
29
Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences. 61 56
6086495 1984
30
Benign X-linked muscular dystrophy (Becker type): a kindred with very slow rate of progression. 56 61
6364683 1983
31
Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. 61 56
6620324 1983
32
Prospective study of X-linked progressive muscular dystrophy in Campania. 61 56
6683357 1983
33
Bilateral patellar subluxation secondary to Becker muscular dystrophy. A case report. 56 61
7085704 1982
34
[Biochemical, histological and clinical findings in a four-year-old female carrier of benign X-linked muscular dystrophy (Becker type)]. 61 56
5576061 1971
35
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
36
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. 56
19367636 2009
37
Distinctive patterns of microRNA expression in primary muscular disorders. 61 46
17942673 2007
38
Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. 56
15528407 2004
39
Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy. 56
12522557 2003
40
The muscular dystrophies. 56
11879882 2002
41
Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. 56
11257476 2001
42
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. 6
11039581 2000
43
Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? 56
9800909 1998
44
A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin. 56
7496177 1995
45
Carrier detection in DMD families with point mutations, using PCR-SSCP and direct sequencing. 6
7881286 1994
46
Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy. 56
7951237 1994
47
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. 56
8012195 1994
48
Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. 56
8326329 1993
49
Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts. 6
8401537 1993
50
An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. 6
1577476 1992

Variations for Muscular Dystrophy, Becker Type

ClinVar genetic disease variations for Muscular Dystrophy, Becker Type:

6 (show top 50) (show all 76) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DMD NM_004006.2(DMD):c.2804-1G>TSNV Pathogenic 455886 rs398123909 X:32490427-32490427 X:32472310-32472310
2 DMD NM_004006.2(DMD):c.7310-1G>ASNV Pathogenic 492825 rs1556880354 X:31792310-31792310 X:31774193-31774193
3 DMD NM_004006.2(DMD):c.2669T>A (p.Leu890Ter)SNV Pathogenic 492823 rs1557380616 X:32503170-32503170 X:32485053-32485053
4 DMD NM_000109.4(DMD):c.606del (p.Lys203fs)deletion Pathogenic 492822 rs1557047827 X:32827629-32827629 X:32809512-32809512
5 DMD NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)duplication Pathogenic 497301 rs886043375 X:31187659-31187660 X:31169542-31169543
6 DMD deletion Pathogenic 560054 X:31697480-31766673 X:31679364-31748557
7 DMD duplication Pathogenic 560062 X:31947471-31972601
8 DMD GRCh37/hg19 Xp21.1(chrX:31853996-31855256)copy number loss Pathogenic 625643 X:31853996-31855256
9 DMD GRCh37/hg19 Xp21.1(chrX:31792077-31893490)copy number loss Pathogenic 813307 X:31792077-31893490
10 DMD NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter)SNV Pathogenic 11213 rs104894787 X:31196901-31196901 X:31178784-31178784
11 DMD NM_000109.4(DMD):c.2356+3A>CSNV Pathogenic 11226 rs1569564916 X:32519869-32519869 X:32501752-32501752
12 DMD NM_000109.4(DMD):c.8524-1G>CSNV Pathogenic 11227 rs1569546198 X:31497221-31497221 X:31479104-31479104
13 DMD NM_000109.4(DMD):c.479C>A (p.Ala160Asp)SNV Pathogenic 11230 rs128626236 X:32834612-32834612 X:32816495-32816495
14 DMD NM_000109.4(DMD):c.667T>A (p.Tyr223Asn)SNV Pathogenic 11241 rs128626237 X:32717369-32717369 X:32699252-32699252
15 DMD BMD, IVS13, G-T, -1SNV Pathogenic 11248
16 DMD DMD, 1-BP DEL, 10683Cdeletion Pathogenic 11277
17 DMD NM_000109.4(DMD):c.3607G>T (p.Glu1203Ter)SNV Pathogenic 11280 rs267606771 X:32466728-32466728 X:32448611-32448611
18 DMD NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)SNV Pathogenic 11283 rs5030730 X:32456489-32456489 X:32438372-32438372
19 DMD NM_004006.2(DMD):c.8713C>T (p.Arg2905Ter)SNV Pathogenic 11288 rs128627256 X:31496447-31496447 X:31478330-31478330
20 DMD NM_004006.2(DMD):c.9G>A (p.Trp3Ter)SNV Pathogenic 29962 rs398122853 X:33229421-33229421 X:33211304-33211304
21 DMD NM_004006.2(DMD):c.10171C>T (p.Arg3391Ter)SNV Pathogenic 94428 rs398123832 X:31196838-31196838 X:31178721-31178721
22 DMD NM_000109.4(DMD):c.9830_9839del (p.Met3277fs)deletion Pathogenic 94863 rs398124105 X:31200966-31200975 X:31182849-31182858
23 DMD NM_004006.2(DMD):c.3151C>T (p.Arg1051Ter)SNV Pathogenic 94576 rs398123929 X:32486626-32486626 X:32468509-32468509
24 DMD NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter)SNV Pathogenic 94584 rs398123935 X:32481693-32481693 X:32463576-32463576
25 DMD NM_000109.4(DMD):c.1069C>T (p.Gln357Ter)SNV Pathogenic 193663 rs794726993 X:32663137-32663137 X:32645020-32645020
26 DMD NM_004006.3(DMD):c.1812+1G>ASNV Pathogenic 162497 rs373286166 X:32591646-32591646 X:32573529-32573529
27 DMD NM_004006.2(DMD):c.6502G>T (p.Glu2168Ter)SNV Pathogenic 225615 rs779739455 X:31986568-31986568 X:31968451-31968451
28 DMD deletion Pathogenic 374332 X:31838467-31867499
29 DMD deletion Pathogenic 374372 X:31792077-31854939
30 DMD NM_000109.4(DMD):c.10074_10076AGA[1] (p.Glu3359del)short repeat Pathogenic 284288 rs886042840 X:31196906-31196908 X:31178789-31178791
31 DMD NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter)SNV Pathogenic/Likely pathogenic 374132 rs201217593 X:31196064-31196064 X:31177947-31177947
32 DMD NM_004006.2(DMD):c.9225-285A>GSNV Pathogenic/Likely pathogenic 11286 rs587776747 X:31279418-31279418 X:31261301-31261301
33 DMD NM_004006.2(DMD):c.3432+2036A>GSNV Likely pathogenic 455893 rs182575709 X:32479520-32479520 X:32461403-32461403
34 DMD NM_004006.2(DMD):c.9352G>T (p.Ala3118Ser)SNV Conflicting interpretations of pathogenicity 520520 rs200928985 X:31241173-31241173 X:31223056-31223056
35 DMD NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)SNV Conflicting interpretations of pathogenicity 94757 rs72466590 X:31854852-31854852 X:31836735-31836735
36 PKP2 NM_001005242.3(PKP2):c.1379-2019C>TSNV Conflicting interpretations of pathogenicity 179026 rs149930872 12:32996158-32996158 12:32843224-32843224
37 DMD NM_004006.3(DMD):c.295A>G (p.Ile99Val)SNV Conflicting interpretations of pathogenicity 166867 rs149428656 X:32841474-32841474 X:32823357-32823357
38 DMD NM_004006.2(DMD):c.960+9A>GSNV Conflicting interpretations of pathogenicity 259219 rs886038537 X:32715978-32715978 X:32697861-32697861
39 DMD NM_004006.2(DMD):c.5076A>G (p.Thr1692=)SNV Conflicting interpretations of pathogenicity 282498 rs145181319 X:32382777-32382777 X:32364660-32364660
40 DMD NM_000109.4(DMD):c.1700T>C (p.Leu567Pro)SNV Conflicting interpretations of pathogenicity 161220 rs370644567 X:32591735-32591735 X:32573618-32573618
41 DMD NM_000109.4(DMD):c.1294G>A (p.Glu432Lys)SNV Conflicting interpretations of pathogenicity 161221 rs189143447 X:32662262-32662262 X:32644145-32644145
42 DMD NM_004006.2(DMD):c.1687C>T (p.Arg563Cys)SNV Conflicting interpretations of pathogenicity 289591 rs145739725 X:32591879-32591879 X:32573762-32573762
43 DMD NM_000109.4(DMD):c.5465G>T (p.Arg1822Ile)SNV Uncertain significance 374948 rs369055628 X:32364157-32364157 X:32346040-32346040
44 DMD NM_000109.4(DMD):c.679C>A (p.Leu227Ile)SNV Uncertain significance 374949 rs200177107 X:32717357-32717357 X:32699240-32699240
45 DMD NM_004006.2(DMD):c.2330T>C (p.Leu777Pro)SNV Uncertain significance 194952 rs794727226 X:32519922-32519922 X:32501805-32501805
46 DMD NM_000109.4(DMD):c.3320T>C (p.Ile1107Thr)SNV Uncertain significance 195878 rs748123444 X:32481644-32481644 X:32463527-32463527
47 DMD NM_004006.2(DMD):c.5869C>T (p.Arg1957Trp)SNV Uncertain significance 201753 rs755477994 X:32360270-32360270 X:32342153-32342153
48 SNTA1 NM_003098.2(SNTA1):c.620G>A (p.Arg207Gln)SNV Uncertain significance 264348 rs771180054 20:32005606-32005606 20:33417800-33417800
49 DMD NM_004006.2(DMD):c.9580A>C (p.Ile3194Leu)SNV Uncertain significance 239615 rs181517869 X:31224768-31224768 X:31206651-31206651
50 DMD NM_004010.3(DMD):c.631T>A (p.Leu211Met)SNV Uncertain significance 522630 rs1280415176 X:32663230-32663230 X:32645113-32645113

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

73
# 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

Expression for Muscular Dystrophy, Becker Type

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

Pathways for Muscular Dystrophy, Becker Type

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 SGCG SGCA LAMA2 DMD DAG1
2
Show member pathways
12.25 VCL NOS1 DMD DAG1 CAPN3
3
Show member pathways
11.82 SGCG SGCA LAMA2 DMD DAG1
4
Show member pathways
11.54 SGCG SGCA LAMA2 DMD DAG1
5 11.41 VCL UTRN DAG1
6 11.25 UTRN LAMA2 DAG1
7 10.3 SSPN NOS1 LAMA2 DMD DAG1

GO Terms for Muscular Dystrophy, Becker Type

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.35 VCL UTRN SSPN SGCG SGCA PIK3C2A
2 cytoskeleton GO:0005856 10.09 VCL UTRN SGCG SGCA NOS1 DMD
3 cell junction GO:0030054 10.01 VCL UTRN SSPN NOS1 DMD DAG1
4 membrane raft GO:0045121 9.83 SGCA NOS1 DMD DAG1
5 postsynaptic membrane GO:0045211 9.76 UTRN SSPN DMD DAG1
6 filopodium GO:0030175 9.69 UTRN DMD DAG1
7 neuromuscular junction GO:0031594 9.67 UTRN SYNC LAMA2
8 Z disc GO:0030018 9.62 SYNC NOS1 DMD CAPN3
9 filopodium membrane GO:0031527 9.56 UTRN DMD
10 T-tubule GO:0030315 9.54 NOS1 DYSF CAPN3
11 cell-substrate junction GO:0030055 9.48 VCL DMD
12 contractile ring GO:0070938 9.43 UTRN DAG1
13 costamere GO:0043034 9.43 VCL DMD DAG1
14 sarcoglycan complex GO:0016012 9.4 SGCG SGCA
15 sarcolemma GO:0042383 9.4 VCL UTRN SYNC SSPN SGCG SGCA
16 dystrophin-associated glycoprotein complex GO:0016010 9.35 UTRN SSPN SGCA DMD DAG1
17 dystroglycan complex GO:0016011 9.33 SGCG SGCA DAG1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.63 VCL UTRN SSPN SGCA NOS1 DYSF
2 skeletal muscle tissue regeneration GO:0043403 9.56 SGCA DYSF DMD DAG1
3 maintenance of permeability of blood-brain barrier GO:0035633 9.54 VCL LAMA2 DMD
4 positive regulation of cell-matrix adhesion GO:0001954 9.5 UTRN DMD DAG1
5 protein O-linked mannosylation GO:0035269 9.49 FKTN FKRP
6 muscle fiber development GO:0048747 9.48 DYSF DMD
7 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.46 NOS1 DMD
8 glycerol metabolic process GO:0006071 9.43 GK DYSF
9 Schwann cell differentiation GO:0014037 9.4 LAMA2 DAG1
10 response to denervation involved in regulation of muscle adaptation GO:0014894 9.26 UTRN SGCA DMD DAG1
11 muscle organ development GO:0007517 9.17 UTRN SGCG SGCA LAMA2 FKTN DMD

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.33 DMD DAG1 CAPN3
2 vinculin binding GO:0017166 9.13 UTRN DMD DAG1
3 dystroglycan binding GO:0002162 8.92 VCL FKRP DMD DAG1

Sources for Muscular Dystrophy, Becker Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....