MCID: MSC005
MIFTS: 65

Muscular Dystrophy

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

Aliases & Classifications for Muscular Dystrophy

MalaCards integrated aliases for Muscular Dystrophy:

Name: Muscular Dystrophy 12 72 50 51 29 41 3 14 69
Muscular Dystrophies 52 42

Classifications:



External Ids:

Disease Ontology 12 DOID:9884
ICD10 33 G71.0
ICD9CM 35 359.1
MeSH 42 D009136
NCIt 47 C84910
UMLS 69 C0026850

Summaries for Muscular Dystrophy

NINDS : 51 The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

MalaCards based summary : Muscular Dystrophy, also known as muscular dystrophies, is related to muscular dystrophy, limb-girdle, type 1b and autosomal recessive limb-girdle muscular dystrophy type 2e, and has symptoms including back pain, muscle cramp and myoclonus. An important gene associated with Muscular Dystrophy is DMD (Dystrophin), and among its related pathways/superpathways are Allograft rejection and Degradation of the extracellular matrix. The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and brain, and related phenotypes are behavior/neurological and cellular

NIH Rare Diseases : 50 muscular dystrophy (md) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. some forms of md are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. the disorders differ in terms of the distribution and extent of muscle weakness (some forms of md also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. the prognosis for people with md varies according to the type and progression of the disorder. there is no specific treatment to stop or reverse any form of md. treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities. last updated: 2/16/2011

MedlinePlus : 41 muscular dystrophy (md) is a group of more than 30 inherited diseases. they all cause muscle weakness and muscle loss. some forms of md appear in infancy or childhood. others may not appear until middle age or later. the different types can vary in whom they affect, which muscles they affect, and what the symptoms are. all forms of md grow worse as the person's muscles get weaker. most people with md eventually lose the ability to walk. there is no cure for muscular dystrophy. treatments can help with the symptoms and prevent complications. they include physical and speech therapy, orthopedic devices, surgery, and medications. some people with md have mild cases that worsen slowly. others cases are disabling and severe. nih: national institute of neurological disorders and stroke

CDC : 3 Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get help as early as possible. Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.

Disease Ontology : 12 A myopathy is characterized by progressive skeletal muscle weakness degeneration.

Wikipedia : 72 Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown... more...

Related Diseases for Muscular Dystrophy

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital Muscular Dystrophy, Congenital, 1b
Congenital Muscular Dystrophy Due to Lmna Mutation Lama2-Related Muscular Dystrophy
Congenital Muscular Dystrophy Due to Dystroglycanopathy Congenital Muscular Dystrophy Type 1a
Progressive Muscular Dystrophy

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

(show top 50) (show all 493)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 1b 35.1 CAV3 EMD LMNA
2 autosomal recessive limb-girdle muscular dystrophy type 2e 34.9 CAPN3 DMD DYSF FKRP POMT1 SGCA
3 emery-dreifuss muscular dystrophy 2, ad 34.9 EMD LMNA
4 miyoshi muscular dystrophy 3 34.9 DYSF FKRP FKTN POMT1 POMT2
5 ullrich congenital muscular dystrophy 1 34.8 CAPN3 COL6A2 DMD DYSF LMNA SELENON
6 muscular dystrophy, rigid spine, 1 34.8 COL6A2 DMD DYSF LAMA2 SELENON
7 autosomal recessive limb-girdle muscular dystrophy type 2h 34.8 CAPN3 DYSF FKRP SGCA SGCB
8 autosomal recessive limb-girdle muscular dystrophy type 2b 34.7 CAV3 EMD LMNA MYOT
9 muscular dystrophy, congenital, 1b 34.7 DAG1 DMD FKRP FKTN LAMA2
10 miyoshi muscular dystrophy 1 34.6 CAPN3 DYSF
11 autosomal recessive limb-girdle muscular dystrophy type 2f 34.6 CAPN3 CAV3 DYSF FKRP MYOT SGCA
12 muscular dystrophy-dystroglycanopathy , type b, 4 34.6 DAG1 DMD FKRP FKTN LAMA2 POMT1
13 muscular dystrophy, congenital 34.4 CAPN3 COL6A2 DAG1 DMD FKRP FKTN
14 salih myopathy 32.7 CAPN3 FKRP MYOT
15 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 31.3 FKRP POMT1 POMT2
16 nonsyndromic deafness 30.7 DAG1 DMD FKRP FKTN LAMA2 POMT1
17 duchenne muscular dystrophy 12.6
18 becker muscular dystrophy 12.5
19 oculopharyngeal muscular dystrophy 12.5
20 emery-dreifuss muscular dystrophy 12.5
21 facioscapulohumeral muscular dystrophy 1 12.4
22 muscular dystrophy, limb-girdle, type 2a 12.4
23 muscular dystrophy-dystroglycanopathy , type a, 4 12.4
24 limb-girdle muscular dystrophy 12.4
25 muscular dystrophy-dystroglycanopathy , type c, 1 12.4
26 muscular dystrophy-dystroglycanopathy , type c, 5 12.4
27 muscular dystrophy, limb-girdle, type 2c 12.4
28 muscular dystrophy, limb-girdle, type 2y 12.4
29 muscular dystrophy-dystroglycanopathy , type c, 2 12.3
30 muscular dystrophy, limb-girdle, type 2q 12.3
31 muscular dystrophy-dystroglycanopathy , type c, 3 12.3
32 muscular dystrophy-dystroglycanopathy , type c, 9 12.3
33 epidermolysis bullosa simplex with muscular dystrophy 12.3
34 muscular dystrophy, limb-girdle, type 2d 12.3
35 muscular dystrophy-dystroglycanopathy , type c, 14 12.3
36 muscular dystrophy, limb-girdle, type 1e 12.3
37 muscular dystrophy, limb-girdle, type 1a 12.3
38 muscular dystrophy-dystroglycanopathy , type c, 4 12.3
39 tibial muscular dystrophy, tardive 12.3
40 muscular dystrophy, limb-girdle, type 1f 12.3
41 muscular dystrophy, limb-girdle, type 1g 12.3
42 muscular dystrophy, limb-girdle, type 2g 12.3
43 muscular dystrophy, limb-girdle, type ic 12.3
44 muscular dystrophy-dystroglycanopathy , type c, 7 12.3
45 autosomal recessive limb-girdle muscular dystrophy 12.3
46 muscular dystrophy, limb-girdle, type 1h 12.3
47 muscular dystrophy, limb-girdle, type 2b 12.3
48 muscular dystrophy, limb-girdle, type 2j 12.3
49 muscular dystrophy, limb-girdle, type 2l 12.3
50 autosomal dominant limb-girdle muscular dystrophy 12.3

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



Diseases related to Muscular Dystrophy

Symptoms & Phenotypes for Muscular Dystrophy

UMLS symptoms related to Muscular Dystrophy:


back pain, muscle cramp, myoclonus, sciatica, torticollis

MGI Mouse Phenotypes related to Muscular Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 DAG1 DMD DYSF EMD FKRP FKTN
2 cellular MP:0005384 10.15 LAMA2 LMNA PLEC POMT2 SELENON SGCG
3 cardiovascular system MP:0005385 10.14 CAPN3 CAV3 DAG1 DMD EMD LMNA
4 growth/size/body region MP:0005378 10.1 SELENON SGCB SGCG CAPN3 DAG1 DMD
5 homeostasis/metabolism MP:0005376 10.07 CAPN3 CAV3 DAG1 DMD DYSF FKRP
6 immune system MP:0005387 9.9 CAV3 DMD DYSF FKRP FKTN LAMA2
7 muscle MP:0005369 9.86 SGCG CAPN3 CAV3 DAG1 DMD DYSF
8 normal MP:0002873 9.23 CAPN3 DAG1 DMD FKRP LMNA MYOT

Drugs & Therapeutics for Muscular Dystrophy

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

(show top 50) (show all 248)
id 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,Early Phase 1 171596-29-5 110635
4
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6 Adrenergic Agents Phase 4,Phase 3
7 Adrenergic alpha-1 Receptor Antagonists Phase 4
8 Adrenergic alpha-Antagonists Phase 4
9 Adrenergic Antagonists Phase 4
10 Adrenergic beta-Antagonists Phase 4
11 Antihypertensive Agents Phase 4,Phase 3,Phase 2
12 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
13 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
15 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
16
protease inhibitors Phase 4,Phase 3,Phase 2
17 Bone Density Conservation Agents Phase 4,Phase 3,Phase 1
18 Calcium, Dietary Phase 4,Phase 3
19 Vitamins Phase 4,Phase 2,Phase 3
20 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
22 Diphosphonates Phase 4,Phase 3
23 Risedronate Sodium Phase 4 115436-72-1
24 Anti-Bacterial Agents Phase 4,Phase 1
25 Antibiotics, Antitubercular Phase 4
26
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
27
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
28
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
29
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
30
Enalaprilat Approved Phase 3 76420-72-9 6917719
31
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
32 Deflazacort Approved Phase 2, Phase 3, Phase 1 14484-47-0
33
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
34
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
35
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
36
Eplerenone Approved Phase 3 107724-20-9 150310 443872
37
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
38
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
39
Zoledronic acid Approved Phase 3 118072-93-8 68740
40
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
41
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
42 tannic acid Approved, Nutraceutical Phase 3
43
Dehydroepiandrosterone Approved, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
44
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
45 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
46 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
47 Antioxidants Phase 3,Phase 2,Phase 1
48 Micronutrients Phase 3,Phase 2
49 Protective Agents Phase 3,Phase 2,Phase 1
50 Trace Elements Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 383)

id 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 PDE5 Inhibition to Alleviate Functional Muscle Ischemia in Becker Muscular Dystrophy Completed NCT02207283 Phase 4 Tadalafil;Placebo
5 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4 Bisphosphonate treatment
6 Stacking Exercises Aid the Decline in FVC and Sick Time Active, not recruiting NCT01999075 Phase 4
7 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
8 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
9 High-dose Prednisone in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
10 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
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 Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Completed NCT00592553 Phase 2, Phase 3 PTC124 High Dose;PTC124 Low Dose;Placebo
13 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
14 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
15 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
16 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
17 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
18 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
19 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
20 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
21 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
22 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 Sialic Acid Tablets;Placebo Tablets
23 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
24 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
25 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
26 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
27 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
28 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
29 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
30 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
31 A Research Study of Zoledronic Acid in Children and Adolescents With Osteoporosis Recruiting NCT00799266 Phase 3 Zoledronic acid;Placebo
32 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
33 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
34 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3 Eplerenone;Spironolactone
35 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
36 Confirmatory Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
37 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Active, not recruiting NCT02878694 Phase 2, Phase 3
38 Continuation Protocol to Protocol BBCO-001 Active, not recruiting NCT02328482 Phase 3 Cabaletta 30gr
39 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
40 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3 Ataluren
41 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
42 Study to Evaluate the Safety and Efficacy of Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Active, not recruiting NCT02736188 Phase 3 Aceneuramic Acid Extended-Release Tablets
43 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
44 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3 Ataluren
45 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
46 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
47 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
48 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone
49 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
50 Extension Study of Drisapersen in DMD Subjects Terminated NCT02636686 Phase 3 Drisapersen

Search NIH Clinical Center for Muscular Dystrophy

Cochrane evidence based reviews: muscular dystrophies

Genetic Tests for Muscular Dystrophy

Genetic tests related to Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Muscular Dystrophy 29

Anatomical Context for Muscular Dystrophy

MalaCards organs/tissues related to Muscular Dystrophy:

39
Skeletal Muscle, Heart, Brain, Testes, Bone, Skin, Eye

Publications for Muscular Dystrophy

Articles related to Muscular Dystrophy:

(show top 50) (show all 4103)
id Title Authors Year
1
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
2
Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I. ( 28666318 )
2017
3
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. ( 28079318 )
2017
4
The Direct Cost of Managing a Rare Disease: Assessing Medical and Pharmacy Costs Associated with Duchenne Muscular Dystrophy in the United States. ( 28530521 )
2017
5
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies. ( 27750387 )
2017
6
Anti-HMGCR necrotizing myopathy masquerading as a muscular dystrophy in a child. ( 28066895 )
2017
7
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766 )
2017
8
Abnormal lipid metabolism in skeletal muscle tissue of patients with muscular dystrophy: In vitro, high-resolution NMR spectroscopy based observation in early phase of the disease. ( 28069416 )
2017
9
Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy. ( 28954035 )
2017
10
A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy. ( 28288529 )
2017
11
Quantification of information transfer rate of the human hand during a mouse clicking task with healthy adults and one adult with Duchenne muscular Dystrophy. ( 28813989 )
2017
12
Improvements in motor tasks through the use of smartphone technology for individuals with Duchenne muscular dystrophy. ( 28860778 )
2017
13
Possible local anesthetic resistance in Emery-Dreifuss muscular dystrophy during regional anesthesia. ( 28794845 )
2017
14
Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy. ( 28918041 )
2017
15
Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy. ( 28393376 )
2017
16
Variations in Duchenne muscular dystrophy course in a multi-ethnic UK population: potential influence of socio-economic factors. ( 28509411 )
2017
17
Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress. ( 28531892 )
2017
18
Mechanical insufflation-exsufflation for an individual with Duchenne muscular dystrophy and a lower respiratory infection. ( 27999675 )
2017
19
Facioscapulohumeral Muscular Dystrophy. ( 28915324 )
2017
20
Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy. ( 28505980 )
2017
21
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. ( 28803818 )
2017
22
A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient. ( 28937030 )
2017
23
Interleukin 1 Receptor-Like 1 Protein (ST2) is a Potential Biomarker for Cardiomyopathy in Duchenne Muscular Dystrophy. ( 28821969 )
2017
24
Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy. ( 28803420 )
2017
25
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy. ( 28502335 )
2017
26
Efficacy of Idebenone to Preserve Respiratory Function above Clinically Meaningful Thresholds for Forced Vital Capacity (FVC) in Patients with Duchenne Muscular Dystrophy. ( 28869486 )
2017
27
Genomic integration of the full-length dystrophin coding sequence in Duchenne muscular dystrophy induced pluripotent stem cells. ( 28139886 )
2017
28
Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes. ( 28590779 )
2017
29
The natural history of the patients with Duchenne muscular dystrophy in Taiwan: A medical center experience. ( 28903883 )
2017
30
Autophagic dysfunction and autophagosome escape in the mdx mus musculus model of Duchenne muscular dystrophy. ( 28834378 )
2017
31
A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. ( 28247318 )
2017
32
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. ( 28697784 )
2017
33
Growing patients with Duchenne muscular dystrophy: longitudinal changes in their dentofacial morphology and orofacial functional capacities. ( 28520860 )
2017
34
Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation. ( 28103310 )
2017
35
Correlation of Serum Creatine Kinase Level With Pulmonary Function in Duchenne Muscular Dystrophy. ( 28503465 )
2017
36
Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy. ( 28904987 )
2017
37
Deflazacort (Emflaza) for Duchenne muscular dystrophy. ( 28880848 )
2017
38
Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S. ( 28827486 )
2017
39
The golden retriever model of Duchenne muscular dystrophy. ( 28526070 )
2017
40
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. ( 28877744 )
2017
41
Cardiopulmonary involvement in limb girdle muscular dystrophy 2A. ( 28786117 )
2017
42
Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy. ( 28865998 )
2017
43
Relationship Between Fragmented QRS Complexes and Cardiac Status in Duchenne Muscular Dystrophy: Multimodal Validation Using Echocardiography, Magnetic Resonance Imaging, and Holter Monitoring. ( 28456833 )
2017
44
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. ( 28702169 )
2017
45
Muscular dystrophy: The long road ahead. ( 28879876 )
2017
46
Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy. ( 28899790 )
2017
47
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I. ( 27872178 )
2017
48
Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy. ( 28427448 )
2017
49
The PJ Nicholoff Steroid Protocol for Duchenne and Becker Muscular Dystrophy and Adrenal Suppression. ( 28744411 )
2017
50
Repair of an inguinoscrotal hernia in a patient with Becker muscular dystrophy. ( 28098058 )
2017

Variations for Muscular Dystrophy

ClinVar genetic disease variations for Muscular Dystrophy:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh37 Chromosome 14, 77745107: 77745107
2 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
3 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh37 Chromosome 1, 156106204: 156106204
4 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh37 Chromosome 1, 156105885: 156105885
5 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
6 CAPN3 NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
7 LMNA NM_170707.3(LMNA): c.1081G> A (p.Glu361Lys) single nucleotide variant Pathogenic rs267607634 GRCh37 Chromosome 1, 156105836: 156105836
8 LMNA NM_170707.3(LMNA): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic rs59332535 GRCh37 Chromosome 1, 156104702: 156104702
9 POMT2 NM_013382.5(POMT2): c.1577-5_1577-1delinsTGA indel Pathogenic rs797045898 GRCh37 Chromosome 14, 77750217: 77750221
10 POMT2 NM_013382.5(POMT2): c.678delG (p.Trp226Cysfs) deletion Pathogenic rs755660222 GRCh37 Chromosome 14, 77767571: 77767571
11 DMD NM_004006.2(DMD): c.(?_6439)-24498_(7873_?)-5329del deletion Pathogenic GRCh37 Chromosome X, 31681590: 32011129
12 CAPN3 NM_000070.2(CAPN3): c.1322delG (p.Gly441Valfs) deletion Pathogenic rs886042090 GRCh37 Chromosome 15, 42691818: 42691818
13 LMNA NM_170707.3(LMNA): c.832G> C (p.Ala278Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 156135208: 156135208
14 LMNA NM_005572.3(LMNA): c.840_845delGAACAG (p.Arg280_Asn281del) deletion Pathogenic GRCh38 Chromosome 1, 156135216: 156135221
15 LMNA NM_170707.3(LMNA): c.1588C> T (p.Leu530Phe) single nucleotide variant Pathogenic rs780302064 GRCh38 Chromosome 1, 156137212: 156137212
16 LMNA NM_170707.3(LMNA): c.1786G> A (p.Asp596Asn) single nucleotide variant Pathogenic rs769561386 GRCh38 Chromosome 1, 156138575: 156138575

Copy number variations for Muscular Dystrophy from CNVD:

7 (show all 13)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 39763 10 119100000 135374737 Deletion Muscular dystrophy
2 129320 19 45200000 48000000 Gain or loss FKRP Muscular dystrophy
3 139274 2 178000000 180600000 Gain or loss TTN Muscular dystrophy
4 184838 4 182600000 191273063 Deletion ANT1 Muscular dystrophy
5 184839 4 182600000 191273063 Deletion DUX4 Muscular dystrophy
6 184840 4 182600000 191273063 Deletion DUX4C Muscular dystrophy
7 184841 4 182600000 191273063 Deletion FRG1 Muscular dystrophy
8 184842 4 182600000 191273063 Deletion FRG2 Muscular dystrophy
9 187519 4 50400000 52700000 Gain or loss SGCB Muscular dystrophy
10 187531 4 50700000 191273063 Deletion RS447 Muscular dystrophy
11 262035 X 29400000 31500000 Microdeletion Muscular dystrophy
12 262126 X 31047265 33267647 Deletion DMD Muscular dystrophy
13 262132 X 31047265 33267647 Insertion DMD Muscular dystrophy

Expression for Muscular Dystrophy

Search GEO for disease gene expression data for Muscular Dystrophy.

Pathways for Muscular Dystrophy

GO Terms for Muscular Dystrophy

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.76 CAV3 DAG1 DMD SGCA
2 extracellular matrix GO:0031012 9.73 COL6A2 LAMA2 LMNA PLEC
3 Z disc GO:0030018 9.67 CAPN3 CAV3 DMD MYOT
4 T-tubule GO:0030315 9.58 CAPN3 CAV3 DYSF
5 costamere GO:0043034 9.5 DAG1 DMD PLEC
6 dystroglycan complex GO:0016011 9.46 DAG1 SGCA SGCB SGCG
7 sarcoglycan complex GO:0016012 9.43 SGCA SGCB SGCG
8 dystrophin-associated glycoprotein complex GO:0016010 9.43 CAV3 DAG1 DMD FKRP SGCA SGCB
9 sarcolemma GO:0042383 9.4 CAV3 COL6A2 DAG1 DMD DYSF FKRP
10 membrane GO:0016020 10.39 CAV3 COL6A2 DAG1 DMD DYSF EMD
11 endoplasmic reticulum GO:0005783 10.04 CAV3 EMD FKRP FKTN POMT1 POMT2
12 cytoskeleton GO:0005856 10.02 DAG1 DMD MYOT PLEC SGCA SGCB

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.84 COL6A2 DAG1 LAMA2 POMT1
2 protein glycosylation GO:0006486 9.8 FKRP FKTN POMT1 POMT2
3 protein O-linked glycosylation GO:0006493 9.63 DAG1 POMT1 POMT2
4 negative regulation of MAPK cascade GO:0043409 9.6 CAV3 DAG1
5 mannosylation GO:0097502 9.59 POMT1 POMT2
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.58 DMD SELENON
7 ER-associated misfolded protein catabolic process GO:0071712 9.58 POMT1 POMT2
8 muscle fiber development GO:0048747 9.57 DMD SGCB
9 mitotic nuclear envelope reassembly GO:0007084 9.56 EMD LMNA
10 Schwann cell differentiation GO:0014037 9.55 DAG1 LAMA2
11 muscle cell cellular homeostasis GO:0046716 9.54 CAPN3 CAV3 DMD
12 plasma membrane repair GO:0001778 9.52 CAV3 DYSF
13 cardiac muscle cell development GO:0055013 9.51 CAV3 SGCB
14 skeletal muscle tissue regeneration GO:0043403 9.5 DAG1 DMD SGCA
15 nucleus localization GO:0051647 9.48 CAV3 DMD
16 protein O-linked mannosylation GO:0035269 9.46 FKRP FKTN POMT1 POMT2
17 regulation of skeletal muscle contraction GO:0014819 9.43 CAV3 DMD
18 response to denervation involved in regulation of muscle adaptation GO:0014894 9.43 DAG1 DMD SGCA
19 muscle contraction GO:0006936 9.43 CAV3 DYSF EMD MYOT PABPN1 SGCA
20 positive regulation of protein O-linked glycosylation GO:1904100 9.4 POMT1 POMT2
21 muscle organ development GO:0007517 9.28 CAPN3 CAV3 DMD EMD FKTN LAMA2

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

id Name GO ID Score Top Affiliating Genes
1 alpha-actinin binding GO:0051393 9.4 DAG1 MYOT
2 nitric-oxide synthase binding GO:0050998 9.37 CAV3 DMD
3 actin binding GO:0003779 9.35 DAG1 DMD EMD MYOT PLEC
4 vinculin binding GO:0017166 9.32 DAG1 DMD
5 dystroglycan binding GO:0002162 9.26 DAG1 DMD
6 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT1 POMT2
7 structural constituent of muscle GO:0008307 9.02 CAPN3 DAG1 DMD MYOT PLEC

Sources for Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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