MCID: MSC005
MIFTS: 66

Muscular Dystrophy

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

Aliases & Classifications for Muscular Dystrophy

MalaCards integrated aliases for Muscular Dystrophy:

Name: Muscular Dystrophy 12 76 53 54 29 6 43 3 15 73
Muscular Dystrophies 55 44
Dystrophy, Muscular 40

Classifications:



External Ids:

Disease Ontology 12 DOID:9884
ICD10 33 G71.0
ICD9CM 35 359.1
MeSH 44 D009136
NCIt 50 C84910
UMLS 73 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 back pain, muscle cramp and myoclonus. An important gene associated with Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are Allograft rejection and Dilated cardiomyopathy (DCM). The drugs Ramipril and Carvedilol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and brain, and related phenotypes are Decreased viability and Decreased viability

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 : 76 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 Muscular Dystrophy, Congenital, Lmna-Related
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Due to Dystroglycanopathy
Congenital Muscular Dystrophy Type 1a

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

(show top 50) (show all 499)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 35.9 DMD DYSF FKTN LAMA2 SGCA
2 muscular dystrophy-dystroglycanopathy , type a, 4 35.8 DMD FKRP FKTN LAMA2 POMT1 POMT2
3 muscular dystrophy, limb-girdle, type 2c 35.8 CAPN3 DMD DYSF SGCA SGCG
4 muscular dystrophy-dystroglycanopathy , type c, 5 35.7 CAPN3 DYSF FKRP LAMA2 TCAP
5 muscular dystrophy, congenital, lmna-related 35.7 EMD FKRP FKTN LAMA2 LMNA POMT1
6 muscular dystrophy-dystroglycanopathy , type c, 4 35.7 FKRP FKTN POMT2
7 muscular dystrophy, limb-girdle, type 2d 35.7 CAPN3 DYSF FKRP SGCA SGCB SGCG
8 muscular dystrophy, limb-girdle, type 2l 35.6 DYSF FKRP FKTN POMT1 POMT2
9 muscular dystrophy, limb-girdle, type 1a 35.6 CAPN3 FKRP MYOT
10 muscular dystrophy, congenital merosin-deficient, 1a 35.6 DMD FKTN LAMA2 LMNA SGCA
11 muscular dystrophy-dystroglycanopathy , type b, 6 35.6 DMD FKRP FKTN LAMA2 POMT1 POMT2
12 muscular dystrophy-dystroglycanopathy , type c, 1 35.6 GMPPB POMT1 POMT2
13 muscular dystrophy, limb-girdle, type 2j 35.6 CAPN3 FKRP MYOT
14 rigid spine muscular dystrophy 1 35.6 DMD DYSF LAMA2 SELENON
15 muscular dystrophy, limb-girdle, type 1e 35.6 FKRP GMPPB MYOT
16 muscular dystrophy, limb-girdle, type 2g 35.5 CAPN3 DYSF FKRP MYOT TCAP
17 muscular dystrophy-dystroglycanopathy , type a, 1 35.5 FKRP FKTN POMT1 POMT2
18 muscular dystrophy-dystroglycanopathy , type c, 2 35.5 GMPPB POMT1 POMT2
19 ullrich congenital muscular dystrophy 1 35.5 CAPN3 LAMA2 LMNA
20 autosomal recessive limb-girdle muscular dystrophy type 2e 35.5 CAPN3 SGCB SGCG
21 autosomal dominant limb-girdle muscular dystrophy type 1c 35.5 DYSF FKRP MYOT
22 distal muscular dystrophy 35.4 CAPN3 DMD DYSF MYOT
23 muscular dystrophy, limb-girdle, type 2h 35.4 CAPN3 DYSF FKRP TCAP
24 muscular dystrophy, congenital, 1b 35.4 DMD FKRP FKTN LAMA2
25 emery-dreifuss muscular dystrophy 2, autosomal dominant 35.4 EMD LMNA
26 muscular dystrophy-dystroglycanopathy , type b, 5 35.4 DMD FKRP FKTN LAMA2 LMNA POMT1
27 autosomal recessive limb-girdle muscular dystrophy type 2h 35.4 CAPN3 DYSF FKRP MYOT SGCG
28 muscular dystrophy, limb-girdle, type 1b 35.4 EMD LMNA
29 muscular dystrophy, limb-girdle, type 2b 35.4 CAPN3 DMD DYSF FKRP MYOT SGCA
30 autosomal recessive limb-girdle muscular dystrophy type 2f 35.4 CAPN3 DYSF SGCA SGCB SGCG
31 muscular dystrophy, limb-girdle, type 1c 35.3 DYSF FKRP
32 muscular dystrophy, limb-girdle, type 2f 35.3 CAPN3 DMD DYSF FKRP SGCA SGCB
33 autosomal recessive limb-girdle muscular dystrophy type 2b 35.3 CAPN3 DYSF SGCA SGCG
34 autosomal dominant limb-girdle muscular dystrophy 35.2 EMD LMNA MYOT
35 autosomal recessive limb-girdle muscular dystrophy 35.2 CAPN3 DMD DYSF FKRP POMT1 SGCA
36 limb-girdle muscular dystrophy 35.0 CAPN3 DMD DYSF FKRP FKTN LMNA
37 muscular dystrophy-dystroglycanopathy 34.9 FKRP GMPPB POMT1 POMT2
38 congenital muscular dystrophy without intellectual disability 34.8 FKRP FKTN POMT1
39 walker-warburg syndrome 34.7 DMD FKRP FKTN GMPPB LAMA2 POMT1
40 bethlem myopathy 1 34.7 CAPN3 DMD DYSF GMPPB LMNA SELENON
41 congenital muscular dystrophy with intellectual disability 34.6 FKRP GMPPB POMT1 POMT2
42 congenital muscular dystrophy with cerebellar involvement 34.6 FKRP GMPPB POMT1 POMT2
43 muscle eye brain disease 34.4 DMD FKRP FKTN GMPPB LAMA2 POMT1
44 dysferlinopathy 33.6 CAPN3 DYSF
45 myopathy, myofibrillar, 1 33.2 MYOT SELENON
46 myopathy 33.1 CAPN3 DMD DYSF EMD FKRP LAMA2
47 myositis 32.1 CAPN3 DMD DYSF
48 neuromuscular disease 32.1 DMD EMD LAMA2 MYOT PABPN1
49 polyglucosan body myopathy 1 with or without immunodeficiency 32.1 CAPN3 DMD FKRP
50 dilated cardiomyopathy 32.0 DMD EMD FKRP FKTN LAMA2 LMNA

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:


back pain, muscle cramp, myoclonus, sciatica, torticollis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 CAPN3
2 Decreased viability GR00221-A-4 10.1 DYSF
3 Decreased viability GR00240-S-1 10.1 TCAP LMNA
4 Decreased viability GR00301-A 10.1 DYSF
5 Decreased viability GR00381-A-1 10.1 SGCA FKRP LAMA2
6 Decreased viability GR00402-S-2 10.1 SGCA FKRP SGCB FKTN SGCG GMPPB
7 no effect GR00402-S-1 9.62 FKRP SGCB FKTN SGCG GMPPB TCAP

MGI Mouse Phenotypes related to Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 DYSF LMNA EMD PABPN1 FKRP PLEC
2 cardiovascular system MP:0005385 10.11 LMNA EMD FKRP PLEC CAPN3 DMD
3 cellular MP:0005384 10.1 LMNA EMD PABPN1 FKRP PLEC FKTN
4 growth/size/body region MP:0005378 10 LMNA FKRP FKTN CAPN3 DMD LAMA2
5 homeostasis/metabolism MP:0005376 10 DYSF LMNA EMD PABPN1 FKRP PLEC
6 immune system MP:0005387 9.65 LAMA2 DYSF LMNA FKRP FKTN DMD
7 muscle MP:0005369 9.53 DYSF LMNA EMD PABPN1 FKRP PLEC

Drugs & Therapeutics for Muscular Dystrophy

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

(show top 50) (show all 260)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ramipril Approved Phase 4 87333-19-5 5362129
2
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
3
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
4
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 171596-29-5 110635
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6
protease inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
7 Adrenergic Agents Phase 4,Phase 3,Not Applicable
8 Adrenergic alpha-1 Receptor Antagonists Phase 4
9 Adrenergic alpha-Antagonists Phase 4
10 Adrenergic Antagonists Phase 4
11 Adrenergic beta-Antagonists Phase 4
12 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable
13 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
14 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
15 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
16 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
17 Vitamins Phase 4,Phase 2,Phase 3,Not Applicable
18 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
19 Risedronate Sodium Phase 4 115436-72-1
20 Diphosphonates Phase 4,Phase 3
21 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
23 Bone Density Conservation Agents Phase 4,Phase 3,Phase 1,Not Applicable
24 Calcium, Dietary Phase 4,Phase 3,Not Applicable
25 Antibiotics, Antitubercular Phase 4
26 Deflazacort Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 14484-47-0
27
Prednisone Approved, Vet_approved Phase 3,Phase 1,Phase 2 53-03-2 5865
28
Spironolactone Approved Phase 3,Not Applicable 1952-01-7, 52-01-7 5833
29
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
30
Eplerenone Approved Phase 3,Not Applicable 107724-20-9 150310 443872
31
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
32
Enalaprilat Approved Phase 3 76420-72-9 6917719
33
Zoledronic acid Approved Phase 3 118072-93-8 68740
34
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
35
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
36
Lisinopril Approved, Investigational Phase 2, Phase 3,Not Applicable 83915-83-7, 76547-98-3 5362119
37
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
38
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
39
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
40
Tamoxifen Approved Phase 3,Phase 1 10540-29-1 2733526
41
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
42
Vitamin C Approved, Nutraceutical Phase 2, Phase 3,Phase 3,Not Applicable 50-81-7 5785 54670067
43 tannic acid Approved, Nutraceutical Phase 3
44
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
45
Creatine Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Not Applicable 57-00-1 586
46
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3 303-98-0 5281915
47
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
48 diuretics Phase 3,Phase 1,Not Applicable
49 Micronutrients Phase 2, Phase 3,Phase 3,Not Applicable
50 Natriuretic Agents Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 414)
# 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 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4 Bisphosphonate treatment
5 Stacking Exercises Aid the Decline in FVC and Sick Time Active, not recruiting NCT01999075 Phase 4
6 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
7 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
8 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
9 High-dose Prednisone in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
10 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
11 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
12 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
13 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
14 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
15 A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD) Completed NCT00018109 Phase 3 glutamine;creatine monohydrate
16 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
17 Continuation Protocol to Protocol BBCO-001 Completed NCT02328482 Phase 3 Cabaletta 30gr
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 An Efficacy and Safety Trial of Intravenous Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids for Chronic Inflammatory Conditions Completed NCT00799266 Phase 3 Zoledronic acid;Placebo;Zoledronic acid;Placebo
21 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
22 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 aceneuramic acid extended-release (Ace-ER);Placebo
23 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
24 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
25 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
26 Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3 RO7239361;Placebo for RO7239361
27 Tamoxifen in Duchenne Muscular Dystrophy Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
28 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
29 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
30 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
31 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
32 Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
33 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
34 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
35 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
36 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3 Eplerenone;Spironolactone
37 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
38 Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
39 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Active, not recruiting NCT02878694 Phase 2, Phase 3
40 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
41 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3 Ataluren
42 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
43 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3 Ataluren
44 An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy Not yet recruiting NCT03532542 Phase 3 Casimersen;Golodirsen
45 Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Not yet recruiting NCT03461289 Phase 3
46 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
47 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
48 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
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 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone

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 4568)
# Title Authors Year
1
Breathing with neuromuscular disease: Does compensatory plasticity in the motor drive to breathe offer a potential therapeutic target in muscular dystrophy? ( 29933052 )
2018
2
Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing. ( 29404407 )
2018
3
Obstetrical, maternal and neonatal outcomes in pregnancies affected by muscular dystrophy. ( 29924738 )
2018
4
Perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support and using a wheelchair: an interview study. ( 29688081 )
2018
5
Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report. ( 29387327 )
2018
6
Advanced Dilated Cardiomyopathy in a Patient With Hutterite Limb-Girdle Muscular Dystrophy: Use of a Left Ventricular Assist Device. ( 29626101 )
2018
7
Genotype-phenotype correlation in Becker muscular dystrophy in Chinese patients. ( 29976999 )
2018
8
Skin cells for use in an alternate diagnostic method for Duchenne muscular dystrophy. ( 29958823 )
2018
9
Mechanotransduction, nuclear architecture and epigenetics in Emery Dreifuss Muscular Dystrophy: tous pour un, un pour tous. ( 29619865 )
2018
10
A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy. ( 29415061 )
2018
11
Ion Channel Dysfunctions in Dilated Cardiomyopathy in Limb-Girdle Muscular Dystrophy. ( 29545480 )
2018
12
Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 a8845-55). ( 29414413 )
2018
13
Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies. ( 29067654 )
2018
14
Generation of GZKHQi001-A and GZWWTi001-A, two induced pluripotent stem cell lines derived from peripheral blood mononuclear cells of Duchenne muscular dystrophy patients. ( 29414414 )
2018
15
Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia. ( 29966189 )
2018
16
Measurement of respiratory function decline in patients with Duchenne muscular dystrophy: a conjoint analysis. ( 29412787 )
2018
17
A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency. ( 29685414 )
2018
18
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. ( 29924848 )
2018
19
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. ( 29910097 )
2018
20
Tracking progress: an update on animal models for Duchenne muscular dystrophy. ( 29914884 )
2018
21
Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L. ( 29794579 )
2018
22
Mobility shift of beta-dystroglycan as a marker of<i>GMPPB</i>gene-related muscular dystrophy. ( 29437916 )
2018
23
A novel PLEC nonsense homozygous mutation (c.7159Ga88&amp;gt;a88T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. ( 29352809 )
2018
24
The Food and Drug Administration's Federal Review of a Pediatric Muscular Dystrophy Protocol. ( 29910527 )
2018
25
Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. ( 29395990 )
2018
26
Evolution of respiratory function in Duchenne muscular dystrophy from childhood to adulthood. ( 29437939 )
2018
27
Regulation of fibrosis in muscular dystrophy. ( 29408413 )
2018
28
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. ( 29555514 )
2018
29
Peptide-conjugated phosphodiamidate oligomer-mediated exon skipping has benefits for cardiac function in mdx and Cmah-/-mdx mouse models of Duchenne muscular dystrophy. ( 29912990 )
2018
30
Morphological and functional analyses of skeletal muscles from an immunodeficient animal model of limb-girdle muscular dystrophy type 2E. ( 29476695 )
2018
31
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations. ( 29869469 )
2018
32
A novel human muscle cell model of Duchenne muscular dystrophy created by CRISPR/Cas9 and evaluation of antisense-mediated exon skipping. ( 29339778 )
2018
33
Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb girdle muscular dystrophy type 2A by muscle magnetic resonance imaging. ( 29797799 )
2018
34
Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. ( 29398641 )
2018
35
Clinical aspects of Emery-Dreifuss muscular dystrophy. ( 29633897 )
2018
36
Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation. ( 29402602 )
2018
37
Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy. ( 29426391 )
2018
38
Novel Mutation of the Dystrophin Gene in a Child with Duchenne Muscular Dystrophy. ( 29336709 )
2018
39
Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy. ( 29924868 )
2018
40
Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence. ( 29974322 )
2018
41
Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy-Implications for Therapies. ( 29925809 )
2018
42
FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1. ( 29436205 )
2018
43
Muscular Dystrophy Model. ( 29951819 )
2018
44
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. ( 29395989 )
2018
45
Implementation of Duchenne Muscular Dystrophy Care Considerations. ( 29925575 )
2018
46
Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy. ( 29441734 )
2018
47
No off-target mutations in functional genome regions of a CRISPR/Cas9-generated monkey model of muscular dystrophy. ( 29941452 )
2018
48
Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy. ( 29434565 )
2018
49
A Preliminary Videofluoroscopic Investigation of Swallowing Physiology and Function in Individuals with Oculopharyngeal Muscular Dystrophy (OPMD). ( 29725764 )
2018
50
Efficacy of Denosumab for Glucocorticoid-Induced Osteoporosis in an Adolescent Patient with Duchenne Muscular Dystrophy: A Case Report. ( 29642113 )
2018

Variations for Muscular Dystrophy

ClinVar genetic disease variations for Muscular Dystrophy:

6
(show top 50) (show all 83)
# 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 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh38 Chromosome 14, 77278764: 77278764
3 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
4 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh38 Chromosome 19, 46756837: 46756837
5 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh37 Chromosome 1, 156106204: 156106204
6 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh38 Chromosome 1, 156136413: 156136413
7 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh37 Chromosome 1, 156105885: 156105885
8 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh38 Chromosome 1, 156136094: 156136094
9 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
10 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
11 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
12 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh38 Chromosome 15, 42387804: 42387804
13 GOSR2 NM_004287.4(GOSR2): c.430G> T (p.Gly144Trp) single nucleotide variant Pathogenic rs387906881 GRCh37 Chromosome 17, 45012488: 45012488
14 GOSR2 NM_004287.4(GOSR2): c.430G> T (p.Gly144Trp) single nucleotide variant Pathogenic rs387906881 GRCh38 Chromosome 17, 46935122: 46935122
15 TTN NM_001256850.1(TTN): c.1800+1G> A single nucleotide variant Likely pathogenic rs397517497 GRCh37 Chromosome 2, 179655434: 179655434
16 TTN NM_001256850.1(TTN): c.1800+1G> A single nucleotide variant Likely pathogenic rs397517497 GRCh38 Chromosome 2, 178790707: 178790707
17 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh37 Chromosome 3, 49761081: 49761081
18 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh38 Chromosome 3, 49723648: 49723648
19 LMNA NM_170707.3(LMNA): c.104T> C (p.Leu35Pro) single nucleotide variant Likely pathogenic rs267607644 GRCh37 Chromosome 1, 156084813: 156084813
20 LMNA NM_170707.3(LMNA): c.104T> C (p.Leu35Pro) single nucleotide variant Likely pathogenic rs267607644 GRCh38 Chromosome 1, 156115022: 156115022
21 LMNA NM_170707.3(LMNA): c.1081G> A (p.Glu361Lys) single nucleotide variant Pathogenic rs267607634 GRCh37 Chromosome 1, 156105836: 156105836
22 LMNA NM_170707.3(LMNA): c.1081G> A (p.Glu361Lys) single nucleotide variant Pathogenic rs267607634 GRCh38 Chromosome 1, 156136045: 156136045
23 LMNA NM_170707.3(LMNA): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic rs59332535 GRCh37 Chromosome 1, 156104702: 156104702
24 LMNA NM_170707.3(LMNA): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic rs59332535 GRCh38 Chromosome 1, 156134911: 156134911
25 LARGE1 NM_004737.5(LARGE1): c.615+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587783731 GRCh37 Chromosome 22, 34000413: 34000413
26 LARGE1 NM_004737.5(LARGE1): c.615+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587783731 GRCh38 Chromosome 22, 33604427: 33604427
27 LARGE1 NM_004737.4(LARGE1): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs116164106 GRCh37 Chromosome 22, 34046550: 34046550
28 LARGE1 NM_004737.4(LARGE1): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs116164106 GRCh38 Chromosome 22, 33650564: 33650564
29 DMD NM_000109.3(DMD): c.7547G> A (p.Arg2516His) single nucleotide variant Benign/Likely benign rs151244052 GRCh37 Chromosome X, 31747837: 31747837
30 DMD NM_000109.3(DMD): c.7547G> A (p.Arg2516His) single nucleotide variant Benign/Likely benign rs151244052 GRCh38 Chromosome X, 31729720: 31729720
31 TTN NM_001256850.1(TTN): c.102712C> T (p.Gln34238Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 GRCh37 Chromosome 2, 179392218: 179392218
32 TTN NM_001256850.1(TTN): c.102712C> T (p.Gln34238Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 GRCh38 Chromosome 2, 178527491: 178527491
33 NEB NM_004543.4(NEB): c.14995C> A (p.Leu4999Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202139330 GRCh38 Chromosome 2, 151548367: 151548367
34 NEB NM_004543.4(NEB): c.14995C> A (p.Leu4999Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202139330 GRCh37 Chromosome 2, 152404881: 152404881
35 POMT2 NM_013382.5(POMT2): c.1577-5_1577-1delinsTGA indel Pathogenic rs797045898 GRCh38 Chromosome 14, 77283874: 77283878
36 POMT2 NM_013382.5(POMT2): c.1577-5_1577-1delinsTGA indel Pathogenic rs797045898 GRCh37 Chromosome 14, 77750217: 77750221
37 POMT2 NM_013382.5(POMT2): c.678delG (p.Trp226Cysfs) deletion Pathogenic rs755660222 GRCh38 Chromosome 14, 77301228: 77301228
38 POMT2 NM_013382.5(POMT2): c.678delG (p.Trp226Cysfs) deletion Pathogenic rs755660222 GRCh37 Chromosome 14, 77767571: 77767571
39 GMPPB NM_013334.3(GMPPB): c.859C> T (p.Arg287Trp) single nucleotide variant Likely pathogenic rs142908436 GRCh37 Chromosome 3, 49759490: 49759490
40 GMPPB NM_013334.3(GMPPB): c.859C> T (p.Arg287Trp) single nucleotide variant Likely pathogenic rs142908436 GRCh38 Chromosome 3, 49722057: 49722057
41 DMD NM_004006.2(DMD): c.(?_6439)-24498_(7873_?)-5329del deletion Pathogenic GRCh37 Chromosome X, 31681590: 32011129
42 DMD NM_004006.2(DMD): c.(?_6439)-24498_(7873_?)-5329del deletion Pathogenic GRCh38 Chromosome X, 31663473: 31993012
43 DTHD1 NM_001136536.4(DTHD1): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs886037840 GRCh38 Chromosome 4, 36282014: 36282014
44 DTHD1 NM_001136536.4(DTHD1): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs886037840 GRCh37 Chromosome 4, 36283636: 36283636
45 TTN NM_001267550.2(TTN): c.62129dupA (p.Ser20712Leufs) duplication Uncertain significance rs886039913 GRCh38 Chromosome 2, 178589596: 178589596
46 TTN NM_001267550.2(TTN): c.62129dupA (p.Ser20712Leufs) duplication Uncertain significance rs886039913 GRCh37 Chromosome 2, 179454323: 179454323
47 46;XX;t(7;13)(p13;q34)dn Translocation Pathogenic
48 CAPN3 NM_000070.2(CAPN3): c.1322delG (p.Gly441Valfs) deletion Pathogenic rs886042090 GRCh37 Chromosome 15, 42691818: 42691818
49 CAPN3 NM_000070.2(CAPN3): c.1322delG (p.Gly441Valfs) deletion Pathogenic rs886042090 GRCh38 Chromosome 15, 42399620: 42399620
50 NEB NM_001271208.1(NEB): c.24094C> T (p.Arg8032Ter) single nucleotide variant Likely pathogenic rs549794342 GRCh37 Chromosome 2, 152357937: 152357937

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 9.91 EMD FKRP FKTN GOSR2 POMT1 POMT2
2 Z disc GO:0030018 9.62 CAPN3 DMD MYOT TCAP
3 sarcoglycan complex GO:0016012 9.43 SGCA SGCB SGCG
4 costamere GO:0043034 9.4 DMD PLEC
5 dystroglycan complex GO:0016011 9.33 SGCA SGCB SGCG
6 sarcolemma GO:0042383 9.28 DMD DYSF FKRP LAMA2 MYOT PLEC
7 dystrophin-associated glycoprotein complex GO:0016010 9.26 DMD FKRP SGCA SGCB

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.72 SGCA SGCB SGCG
2 protein glycosylation GO:0006486 9.62 FKRP FKTN POMT1 POMT2
3 muscle contraction GO:0006936 9.55 DYSF EMD MYOT PABPN1 SGCA
4 skeletal muscle tissue regeneration GO:0043403 9.54 DMD SGCA
5 muscle cell cellular homeostasis GO:0046716 9.52 CAPN3 DMD
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.51 DMD SELENON
7 mannosylation GO:0097502 9.49 POMT1 POMT2
8 response to muscle stretch GO:0035994 9.48 DMD TCAP
9 muscle fiber development GO:0048747 9.46 DMD SGCB
10 ER-associated misfolded protein catabolic process GO:0071712 9.43 POMT1 POMT2
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.4 DMD SGCA
12 mitotic nuclear envelope reassembly GO:0007084 9.37 EMD LMNA
13 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT1 POMT2
14 protein O-linked mannosylation GO:0035269 9.26 FKRP FKTN POMT1 POMT2
15 muscle organ development GO:0007517 9.23 CAPN3 DMD EMD FKTN LAMA2 SGCA

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.62 DMD EMD MYOT PLEC
2 mannosyltransferase activity GO:0000030 9.26 POMT1 POMT2
3 titin binding GO:0031432 9.16 CAPN3 TCAP
4 structural constituent of muscle GO:0008307 9.02 CAPN3 DMD MYOT PLEC TCAP
5 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.96 POMT1 POMT2

Sources for Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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