MCID: MSC005
MIFTS: 68

Muscular Dystrophy

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

Aliases & Classifications for Muscular Dystrophy

MalaCards integrated aliases for Muscular Dystrophy:

Name: Muscular Dystrophy 12 75 53 54 59 29 6 43 3 15 72 33
Muscular Dystrophies 55 44 15
Dystrophy, Muscular 40

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:9884
ICD9CM 35 359.1
MeSH 44 D009136
NCIt 50 C84910
SNOMED-CT 68 44292004 73297009
ICD10 33 G71.0
MESH via Orphanet 45 D009136
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 73 C0026850
Orphanet 59 ORPHA98473
UMLS 72 C0026850

Summaries for Muscular Dystrophy

NINDS : 54 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, becker type and muscular dystrophy-dystroglycanopathy , type a, 4, and has symptoms including myoclonus, back pain and torticollis. An important gene associated with Muscular Dystrophy is DMD (Dystrophin), and among its related pathways/superpathways are Allograft rejection and Dilated cardiomyopathy (DCM). 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 no effect and behavior/neurological

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

NIH Rare Diseases : 53 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.

MedlinePlus : 43 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.

Wikipedia : 75 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, 1b 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 1135)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 36.2 SGCA LAMA2 FKTN DYSF DMD
2 muscular dystrophy-dystroglycanopathy , type a, 4 36.1 POMT2 LAMA2 FKTN FKRP DMD
3 muscular dystrophy-dystroglycanopathy , type c, 5 36.0 TCAP LAMA2 FKRP DYSF CAPN3
4 muscular dystrophy, limb-girdle, autosomal recessive 2 36.0 TCAP SGCB SGCA FKRP DYSF CAPN3
5 limb-girdle muscular dystrophy 36.0 TCAP SGCG SGCB SGCA LMNA LAMA2
6 muscular dystrophy, congenital, lmna-related 36.0 SELENON POMT2 LMNA LAMA2 FKTN FKRP
7 muscular dystrophy-dystroglycanopathy , type c, 4 35.9 POMT2 FKTN FKRP ANO5
8 muscular dystrophy-dystroglycanopathy , type b, 5 35.9 POMT2 LMNA LAMA2 FKTN FKRP DMD
9 muscular dystrophy-dystroglycanopathy , type b, 6 35.9 POMT2 LAMA2 FKTN FKRP DMD
10 ullrich congenital muscular dystrophy 1 35.9 LMNA LAMA2 COL6A2 CAPN3
11 emery-dreifuss muscular dystrophy 2, autosomal dominant 35.8 LMNA EMD COL6A2
12 muscular dystrophy, limb-girdle, autosomal recessive 7 35.8 TCAP FKRP DYSF DMD CAPN3
13 miyoshi muscular dystrophy 35.8 LAMA2 DYSF DMD CAPN3 ANO5
14 muscular dystrophy, congenital merosin-deficient, 1a 35.8 SGCA LMNA LAMA2 FKTN DMD
15 muscular dystrophy, limb-girdle, autosomal recessive 6 35.8 TCAP SGCG SGCB SGCA FKRP DYSF
16 muscular dystrophy, limb-girdle, autosomal recessive 8 35.8 TCAP FKRP DYSF CAPN3
17 muscular dystrophy-dystroglycanopathy , type a, 1 35.8 POMT2 LAMA2 FKTN FKRP DMD
18 muscular dystrophy-dystroglycanopathy , type c, 1 35.8 POMT2 ANO5
19 muscular dystrophy-dystroglycanopathy , type c, 2 35.8 POMT2 ANO5
20 rigid spine muscular dystrophy 1 35.8 SELENON LAMA2 DYSF DMD COL6A2
21 autosomal recessive limb-girdle muscular dystrophy type 2a 35.7 SGCG SGCB SGCA FKRP DYSF CAPN3
22 autosomal recessive limb-girdle muscular dystrophy type 2c 35.7 SGCG SGCB SGCA DYSF DMD CAPN3
23 autosomal recessive limb-girdle muscular dystrophy 35.7 TCAP SGCG SGCA FKRP DYSF DMD
24 autosomal recessive limb-girdle muscular dystrophy type 2b 35.7 SGCG SGCB SGCA DYSF DMD CAPN3
25 autosomal recessive limb-girdle muscular dystrophy type 2d 35.6 SGCG SGCB SGCA FKRP DYSF CAPN3
26 autosomal recessive limb-girdle muscular dystrophy type 2l 35.6 SGCB POMT2 FKTN FKRP DYSF ANO5
27 autosomal recessive limb-girdle muscular dystrophy type 2h 35.6 SGCG SGCB FKRP CAPN3
28 autosomal recessive limb-girdle muscular dystrophy type 2g 35.6 TCAP SGCG SGCB DYSF CAPN3
29 muscular dystrophy, limb-girdle, autosomal dominant 1 35.6 SGCB GMPPB
30 muscular dystrophy, congenital, 1b 35.6 LAMA2 FKTN FKRP DMD
31 autosomal recessive limb-girdle muscular dystrophy type 2j 35.5 SGCB FKRP CAPN3
32 muscular dystrophy-dystroglycanopathy 35.5 POMT2 GMPPB FKRP
33 autosomal recessive limb-girdle muscular dystrophy type 2f 35.5 SGCG SGCB SGCA DYSF CAPN3
34 emery-dreifuss muscular dystrophy 1, x-linked 35.5 LMNA EMD
35 walker-warburg syndrome 35.3 SGCA POMT2 LAMA2 GMPPB FKTN FKRP
36 bethlem myopathy 1 35.2 SELENON LMNA GMPPB DYSF DMD COL6A2
37 congenital muscular dystrophy with intellectual disability 35.0 POMT2 GMPPB FKRP
38 congenital muscular dystrophy without intellectual disability 34.8 FKTN FKRP
39 congenital muscular dystrophy with cerebellar involvement 34.8 POMT2 GMPPB FKRP
40 muscle eye brain disease 34.7 SGCA POMT2 GMPPB FKTN FKRP
41 myopathy 34.2 SELENON NEB EMD DYSF COL6A2 CAPN3
42 neuromuscular disease 34.1 PABPN1 LMNA LAMA2 EMD DMD
43 dysferlinopathy 33.9 DYSF CAPN3
44 cardiomyopathy, dilated, 3b 33.7 SGCA DMD
45 myofibrillar myopathy 33.5 TCAP NEB LMNA DMD
46 dilated cardiomyopathy 33.0 TCAP SGCG SGCB SGCA LMNA LAMA2
47 atrial standstill 1 33.0 LMNA FKRP EMD DMD
48 myositis 32.4 DYSF DMD CAPN3
49 muscular disease 32.4 SGCG SGCB SGCA SELENON POMT2 PABPN1
50 myopathy, congenital 32.0 SELENON NEB DYSF DMD

Comorbidity relations with Muscular Dystrophy via Phenotypic Disease Network (PDN):


Acute Cystitis

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:


myoclonus, back pain, torticollis, sciatica, muscle cramp

GenomeRNAi Phenotypes related to Muscular Dystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ANO5 CAPN3 COL6A2 DMD DYSF EMD

MGI Mouse Phenotypes related to Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 ANO5 COL6A2 DMD DYSF EMD FKRP
2 cellular MP:0005384 10.03 ANO5 DMD EMD FKRP FKTN LAMA2
3 cardiovascular system MP:0005385 9.97 CAPN3 DMD EMD FKRP LMNA SGCA
4 growth/size/body region MP:0005378 9.93 CAPN3 COL6A2 DMD FKRP FKTN LAMA2
5 homeostasis/metabolism MP:0005376 9.83 ANO5 CAPN3 DMD DYSF EMD FKRP
6 muscle MP:0005369 9.53 ANO5 CAPN3 DMD DYSF EMD FKRP

Drugs & Therapeutics for Muscular Dystrophy

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

(show top 50) (show all 265)
# 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
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
5
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
6
Acetaminophen Approved Phase 4 103-90-2 1983
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
9
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
10
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
11
Sodium citrate Approved, Investigational Phase 4 68-04-2
12
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
13
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
15
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
16 Adrenergic alpha-Antagonists Phase 4
17 Adrenergic alpha-1 Receptor Antagonists Phase 4
18 calcium channel blockers Phase 4
19 Calcium, Dietary Phase 4
20 Vitamins Phase 4
21 Anti-Bacterial Agents Phase 4
22 Diphosphonates Phase 4
23 Calciferol Phase 4
24 Antibiotics, Antitubercular Phase 4
25 Analgesics Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Pharmaceutical Solutions Phase 4
28 Antipyretics Phase 4
29 Peripheral Nervous System Agents Phase 4
30 Protective Agents Phase 4
31 Hormones Phase 4
32 Hormone Antagonists Phase 4
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
34 glucocorticoids Phase 4
35 Anti-Inflammatory Agents Phase 4
36 Antineoplastic Agents, Hormonal Phase 4
37 Phosphodiesterase Inhibitors Phase 4
38 Phosphodiesterase 5 Inhibitors Phase 4
39 Vasodilator Agents Phase 4
40 Autonomic Agents Phase 4
41 Prednisolone acetate Phase 4
42 Methylprednisolone Acetate Phase 4
43 Neuroprotective Agents Phase 4
44 Sildenafil Citrate Phase 4 171599-83-0
45 Citrate Phase 4
46 Antiemetics Phase 4
47 Gastrointestinal Agents Phase 4
48
Metformin Approved Phase 3 657-24-9 4091 14219
49
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
50
Eplerenone Approved Phase 3 107724-20-9 150310 443872

Interventional clinical trials:

(show top 50) (show all 445)
# Name Status NCT ID Phase Drugs
1 Carvedilol for the Prevention of Minor Cardiac Damage and Cardiac Function in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
2 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
3 Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
4 Évaluation Multidimensionnelle de la réponse au Traitement de l'ostéoporose spontanée et Induite Par Les corticostéroïdes à l'Aide d'un Bisphosphonate à Administration Orale Chez Des Malades Porteurs d'Une Dystrophie Musculaire sévère. Completed NCT01882400 Phase 4 Bisphosphonate treatment
5 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
6 Open-label, Randomized, Controlled, With Blind Assessor, Study to Assess Efficacy and Safety of Rheosorbilact®, Solution for Infusion ("Yuria-Pharm"), in Comparison With Ringer's Lactate,Solution for Infusion, in a Complex Therapy of Pneumonia. Recruiting NCT03824457 Phase 4 Rheosorbilact®;Ringer lactate
7 Open-label, Randomized, Controlled, With Blind Assessor, Study to Assess Efficacy and Safety of Rheosorbilact®, Solution for Infusion, in Comparison With Ringer's Lactate,Solution for Infusion, in a Complex Therapy of Peritonitis. Recruiting NCT03771170 Phase 4 Rheosorbilact®;Ringer lactate
8 Open-label, Randomized, Controlled, With Blind Assessor, Study to Assess Efficacy and Safety of Rheosorbilact®, Solution for Infusion, in Comparison With Ringer's Lactate, Solution for Infusion, in a Complex Therapy of Sepsis. Recruiting NCT03764085 Phase 4 Rheosorbilact®;Ringer lactate
9 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
10 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)
11 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
12 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Unknown status NCT02878694 Phase 2, Phase 3
13 A Phase III, Randomized, Double Blind, Placebo-controlled Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3 GSK2402968 6mg/kg/week
14 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
15 "A Double Blind Randomised Placebo Controlled Efficacy and Safety Study of L-citrulline and Metformin in Ambulant Children Aged Between 7 and 10 Years With Duchenne's Muscular Dystrophy" Completed NCT01995032 Phase 3 750 mg metformin and 7.5 g L-citrulline daily p.o.;Placebo
16 An Open-Label, Multi-Center, Study With a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy Completed NCT02255552 Phase 3 eteplirsen
17 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
18 A Phase III Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in 10-18 Year Old Patients With Duchenne Muscular Dystrophy Completed NCT01027884 Phase 3 Placebo;Idebenone
19 A Randomized Study of Daily vs. High-dose Weekly Prednisone Therapy in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
20 A Multicenter Randomized Placebo-controlled Double-blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
21 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
22 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
23 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
24 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
25 A Pivotal, Multicenter, Open-label, Randomized Withdrawal, Non-Treatment Concurrent Control Study to Assess the Safety, Tolerability, and Efficacy of Cabaletta® in OPMD Patients Who Participated in Study BBCO-001 Completed NCT02328482 Phase 3 Tehalose 30gr
26 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
27 An Open-Label Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
28 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
29 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
30 A 1-year, Multicenter, Open-label Extension to CZOL446H2337 to Evaluate Safety and Efficacy of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Completed NCT01197300 Phase 3 Zoledronic acid
31 A Multicenter, Randomized, Double-blind, Placebo Controlled Efficacy and Safety Trial of Intravenous Zoledronic Acid Twice Yearly Compared to Placebo in Osteoporotic Children Treated With Glucocorticoids. Completed NCT00799266 Phase 3 Zoledronic acid;Placebo
32 Phase 3 Study of Oral Dehydroepiandrosterone (DHEA) in Adults With Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
33 Prospective, Double Blind, Randomized Phase II/III Study to Assess the Safety and Efficacy of SQIN™ on Xerosis in Adults Suffering of Mobility Impairment and/or Complete Paralysis Associated With Chronic Spinal Cord Injury. Completed NCT02429206 Phase 2, Phase 3
34 A Randomized, Double Blind, Placebo-Controlled, Study to Assess the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3 RO7239361;Placebo for RO7239361
35 A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
36 A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
37 Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
38 A Multicenter Randomized Placebo-Controlled Phase 3 Study on the Safety and Efficacy of Deflazacort (Emflaza®) in Subjects With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Recruiting NCT03783923 Phase 3 Deflazacort;Placebo
39 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
40 A Phase III Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Who Completed the SIDEROS Study Recruiting NCT03603288 Phase 3 idebenone 150 mg film-coated tablets
41 Bisoprolol for Early Cardiomyopathy in Duchenne Muscular Dystrophy: a Randomized, Controlled Trial Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
42 Tamoxifen in Duchenne Muscular Dystrophy: A Multicenter, Randomised, Double-blind, Placebo-controlled, Phase 3 Safety and Efficacy 48-week Trial Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
43 A Phase III Double-blind, Randomized, Placebo-Controlled Study Assessing the Efficacy, Safety and Tolerability of Idebenone in Patients With Duchenne Muscular Dystrophy Receiving Glucocorticoid Steroids Recruiting NCT02814019 Phase 3 Idebenone 150 mg film-coated tablets;placebo
44 Open Label, Long-term Safety, Tolerability, and Efficacy Study of GIVINOSTAT in All DMD Patients Who Have Been Previously Treated in One of the GIVINOSTAT Studies Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
45 A Randomized, Double-Blind, Placebo-Controlled, Multi-center Study to Examine the Effect of Nebivolol, a Beta-Blockade Drug, for the Prevention of Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
46 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
47 PLAY GAME: Post-concussion Syndrome Affecting Youth: GABAergic Effects of Melatonin. A Randomized Double-blind Placebo-controlled Trial of MELATONIN Active, not recruiting NCT01874847 Phase 2, Phase 3
48 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03917719 Phase 3 Edasalonexent
49 Long-term, Open-label Extension Study for Patients With Duchenne Muscular Dystrophy Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen Enrolling by invitation NCT03532542 Phase 3 Casimersen;Golodirsen
50 An Open-Label, Safety Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren

Search NIH Clinical Center for Muscular Dystrophy

Cochrane evidence based reviews: muscular dystrophies

Genetic Tests for Muscular Dystrophy

Genetic tests related to Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Muscular Dystrophy 29

Anatomical Context for Muscular Dystrophy

MalaCards organs/tissues related to Muscular Dystrophy:

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

Publications for Muscular Dystrophy

Articles related to Muscular Dystrophy:

(show top 50) (show all 22543)
# Title Authors PMID Year
1
Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy. 38 17
31261494 2019
2
Do porcine Sertoli cells represent an opportunity for Duchenne muscular dystrophy? 38 17
30912260 2019
3
Biochemical Changes in Blood of Patients with Duchenne Muscular Dystrophy Treated with Granulocyte-Colony Stimulating Factor. 38 17
31001554 2019
4
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 71
23105016 2013
5
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 9 38
19911250 2010
6
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 9 38
20207543 2010
7
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. 9 38
20016501 2010
8
Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. 9 38
19880378 2010
9
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency. 9 38
20145110 2010
10
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. 9 38
20052759 2010
11
Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients. 9 38
19929428 2010
12
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. 9 38
20225280 2010
13
Mutations alter secretion of fukutin-related protein. 9 38
19900540 2010
14
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. 9 38
20082313 2010
15
Systemic myostatin inhibition via liver-targeted gene transfer in normal and dystrophic mice. 9 38
20161803 2010
16
Caveolinopathies: from the biology of caveolin-3 to human diseases. 9 38
19584897 2010
17
Dexamethasone induces dysferlin in myoblasts and enhances their myogenic differentiation. 9 38
20080405 2010
18
Zebrafish models for human FKRP muscular dystrophies. 9 38
19955119 2010
19
Immunolabelling and flow cytometry as new tools to explore dysferlinopathies. 9 38
19854055 2010
20
O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. 9 38
20044576 2010
21
Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy. 9 38
19692349 2009
22
Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation. 9 38
19716805 2009
23
Dystroglycan matrix receptor function in cardiac myocytes is important for limiting activity-induced myocardial damage. 9 38
19797173 2009
24
Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. 9 38
19679566 2009
25
Mutational and functional analysis of Large in a novel CHO glycosylation mutant. 9 38
19470663 2009
26
Laminin alters fyn regulatory mechanisms and promotes oligodendrocyte development. 9 38
19776266 2009
27
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 9 38
19726876 2009
28
Immortalized skin fibroblasts expressing conditional MyoD as a renewable and reliable source of converted human muscle cells to assess therapeutic strategies for muscular dystrophies: validation of an exon-skipping approach to restore dystrophin in Duchenne muscular dystrophy cells. 9 38
19358679 2009
29
Laminopathies and the long strange trip from basic cell biology to therapy. 9 38
19587457 2009
30
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. 9 38
19458539 2009
31
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 9 38
19380584 2009
32
Muscular dystrophy candidate gene FRG1 is critical for muscle development. 9 38
19097195 2009
33
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. 9 38
19266496 2009
34
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. 9 38
19218289 2009
35
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. 9 38
19286669 2009
36
Therapy for neuromuscular disorders. 9 38
19411172 2009
37
Dystrophin and utrophin have distinct effects on the structural dynamics of actin. 9 38
19416869 2009
38
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 9 38
19299310 2009
39
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? 9 38
19287313 2009
40
Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B. 9 38
19258295 2009
41
'Congenital muscular dystrophy caused by integrin alpha7 deficiency'. 9 38
19260934 2009
42
Correction of dystrophia myotonica type 1 pre-mRNA transcripts by artificial trans-splicing. 9 38
18923454 2009
43
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. 9 38
19155270 2009
44
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 9 38
19283854 2009
45
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. 9 38
18406646 2009
46
Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. 9 38
19015585 2009
47
Single muscle fiber contractile properties in adults with muscular dystrophy treated with MYO-029. 9 38
19086063 2009
48
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 9 38
19084400 2009
49
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. 9 38
18974005 2008
50
Freeze-fracture replica immunolabelling reveals caveolin-1 in the human cardiomyocyte plasma membrane. 9 38
18793348 2008

Variations for Muscular Dystrophy

ClinVar genetic disease variations for Muscular Dystrophy:

6 (show all 47)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_005572.3(LMNA): c.832G> C (p.Ala278Pro) single nucleotide variant Pathogenic rs1553265433 1:156104999-156104999 1:156135208-156135208
2 LMNA NM_005572.3(LMNA): c.840_845del (p.Arg280_Asn281del) deletion Pathogenic rs1553265436 1:156105007-156105012 1:156135216-156135221
3 DMD NM_004006.2: c.(?_32)_(649_?)del deletion Pathogenic X:32827610-33038317 X:32809493-33020200
4 FKRP NM_024301.5(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 19:47260094-47260094 19:46756837-46756837
5 LMNA NM_005572.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 1:156105885-156105885 1:156136094-156136094
6 LMNA NM_005572.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 1:156105827-156105827 1:156136036-156136036
7 CAPN3 ; SGCB NM_000070.3(CAPN3): c.550del (p.Thr184fs) deletion Pathogenic rs80338800 15:42680002-42680002 15:42387804-42387804
8 GOSR2 NM_004287.4(GOSR2): c.430G> T (p.Gly144Trp) single nucleotide variant Pathogenic rs387906881 17:45012488-45012488 17:46935122-46935122
9 SGCA NM_000023.4(SGCA): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic rs387907298 17:48245923-48245923 17:50168562-50168562
10 LMNA NM_005572.3(LMNA): c.1081G> A (p.Glu361Lys) single nucleotide variant Pathogenic rs267607634 1:156105836-156105836 1:156136045-156136045
11 LMNA NM_005572.3(LMNA): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic rs59332535 1:156104702-156104702 1:156134911-156134911
12 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 3:49761081-49761081 3:49723648-49723648
13 POMT2 NM_013382.5(POMT2): c.1577-5_1577-1delinsTGA indel Pathogenic rs797045898 14:77750217-77750221 14:77283874-77283878
14 POMT2 NM_013382.5(POMT2): c.678del (p.Trp226fs) deletion Pathogenic rs755660222 14:77767571-77767571 14:77301228-77301228
15 DMD NM_004006.2(DMD): c.(?_6439)-24498_(7873_?)-5329del deletion Pathogenic X:31681590-32011129 X:31663473-31993012
16 46;XX;t(7;13)(p13;q34)dn Translocation Pathogenic
17 CAPN3 NM_000070.3(CAPN3): c.1322del (p.Gly441fs) deletion Pathogenic rs1555421871 15:42691818-42691818 15:42399620-42399620
18 ANO5 NM_213599.2(ANO5): c.1213C> T (p.Gln405Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368970223 11:22276949-22276949 11:22255403-22255403
19 GMPPB NM_021971.2(GMPPB): c.859C> T (p.Arg287Trp) single nucleotide variant Pathogenic/Likely pathogenic rs142908436 3:49759490-49759490 3:49722057-49722057
20 LMNA NM_005572.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 1:156106204-156106204 1:156136413-156136413
21 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 14:77745107-77745107 14:77278764-77278764
22 NEB NM_001271208.2(NEB): c.24094C> T (p.Arg8032Ter) single nucleotide variant Pathogenic/Likely pathogenic rs549794342 2:152357937-152357937 2:151501423-151501423
23 COL6A2 NM_001849.3(COL6A2): c.736-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs1057518925 21:47533920-47533920 21:46114006-46114006
24 TTN NM_001267550.2(TTN): c.103360del (p.Glu34454fs) deletion Likely pathogenic rs760768093 2:179397982-179397982 2:178533255-178533255
25 LMNA NM_005572.3(LMNA): c.464_478del (p.Lys155_Gly160delinsSer) deletion Likely pathogenic rs1553264624 1:156100515-156100529 1:156130724-156130738
26 LMNA NM_005572.3(LMNA): c.790_792del (p.Glu264del) deletion Likely pathogenic rs1553265369 1:156104746-156104748 1:156134955-156134957
27 LMNA NM_005572.3(LMNA): c.1147_1149GAG[2] (p.Glu385del) short repeat Likely pathogenic rs1553265761 1:156105908-156105910 1:156136117-156136119
28 LMNA NM_005572.3(LMNA): c.1163G> C (p.Arg388Pro) single nucleotide variant Likely pathogenic rs267607576 1:156106010-156106010 1:156136219-156136219
29 DMD NM_004006.2(DMD): c.357+1G> A single nucleotide variant Likely pathogenic rs1557058294 X:32841411-32841411 X:32823294-32823294
30 LMNA NM_005572.3(LMNA): c.104T> C (p.Leu35Pro) single nucleotide variant Likely pathogenic rs267607644 1:156084813-156084813 1:156115022-156115022
31 LMNA NM_005572.3(LMNA): c.810G> C (p.Lys270Asn) single nucleotide variant Likely pathogenic 1:156104766-156104766 1:156134975-156134975
32 TTN NM_001267550.2(TTN): c.107635C> T (p.Gln35879Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 2:179392218-179392218 2:178527491-178527491
33 NEB NM_001271208.2(NEB): c.20098C> A (p.Leu6700Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202139330 2:152404881-152404881 2:151548367-151548367
34 DYSF NM_003494.4(DYSF): c.383G> A (p.Gly128Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34997054 2:71738977-71738977 2:71511847-71511847
35 LARGE1 NM_004737.6(LARGE1): c.251G> C (p.Ser84Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs398124184 22:34046510-34046510 22:33650524-33650524
36 LARGE1 NM_004737.6(LARGE1): c.615+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587783731 22:34000413-34000413 22:33604427-33604427
37 TTN NM_133379.5(TTN): c.1800+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs397517497 2:179655434-179655434 2:178790707-178790707
38 LMNA NM_005572.3(LMNA): c.1588C> T (p.Leu530Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs780302064 1:156107003-156107003 1:156137212-156137212
39 LMNA NM_170707.4(LMNA): c.1786G> A (p.Asp596Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs769561386 1:156108366-156108366 1:156138575-156138575
40 DYSF NM_003494.4(DYSF): c.228G> A (p.Gly76=) single nucleotide variant Uncertain significance rs1553508988 2:71709092-71709092 2:71481962-71481962
41 TP63 NM_003722.5(TP63): c.191+5G> C single nucleotide variant Uncertain significance rs1553824695 3:189455662-189455662 3:189737873-189737873
42 TTN NM_001267550.2(TTN): c.11444A> C (p.Lys3815Thr) single nucleotide variant Uncertain significance rs1184657184 2:179606516-179606516 2:178741789-178741789
43 GOSR2 NM_004287.4(GOSR2): c.22dup (p.Thr8fs) duplication Uncertain significance rs746855352 17:45000580-45000580 17:46923214-46923214
44 LARGE1 NM_004737.6(LARGE1): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs116164106 22:34046550-34046550 22:33650564-33650564
45 DTHD1 NM_001170700.3(DTHD1): c.256T> C (p.Cys86Arg) single nucleotide variant Uncertain significance rs886037840 4:36283636-36283636 4:36282014-36282014
46 TTN NM_001267550.2(TTN): c.62129dup (p.Ser20712fs) duplication Uncertain significance rs886039913 2:179454323-179454323 2:178589596-178589596
47 DMD NM_004006.2(DMD): c.7571G> A (p.Arg2524His) single nucleotide variant Benign/Likely benign rs151244052 X:31747837-31747837 X:31729720-31729720

Copy number variations for Muscular Dystrophy from CNVD:

7 (show all 13)
# 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:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.95 SELENON POMT2 GOSR2 FKTN FKRP EMD
2 Z disc GO:0030018 9.62 TCAP NEB DMD CAPN3
3 myofibril GO:0030016 9.54 NEB DMD CAPN3
4 sarcoglycan complex GO:0016012 9.43 SGCG SGCB SGCA
5 dystroglycan complex GO:0016011 9.33 SGCG SGCB SGCA
6 sarcolemma GO:0042383 9.23 SGCG SGCB SGCA LAMA2 FKRP DYSF
7 dystrophin-associated glycoprotein complex GO:0016010 9.13 SGCB SGCA DMD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.62 SGCA PABPN1 EMD DYSF
2 muscle filament sliding GO:0030049 9.54 TCAP NEB DMD
3 muscle cell cellular homeostasis GO:0046716 9.49 DMD CAPN3
4 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.48 SELENON DMD
5 response to muscle stretch GO:0035994 9.46 TCAP DMD
6 response to denervation involved in regulation of muscle adaptation GO:0014894 9.43 SGCA DMD
7 protein O-linked mannosylation GO:0035269 9.43 POMT2 FKTN FKRP
8 mitotic nuclear envelope reassembly GO:0007084 9.4 LMNA EMD
9 muscle fiber development GO:0048747 9.33 SGCB DYSF DMD
10 muscle organ development GO:0007517 9.28 SGCG SGCB SGCA NEB LAMA2 FKTN
11 skeletal muscle tissue regeneration GO:0043403 9.13 SGCA DYSF DMD

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

# Name GO ID Score Top Affiliating Genes
1 titin binding GO:0031432 9.16 TCAP CAPN3
2 dystroglycan binding GO:0002162 8.96 FKRP DMD
3 structural constituent of muscle GO:0008307 8.92 TCAP NEB DMD CAPN3

Sources for Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....