MCID: MSC005
MIFTS: 66

Muscular Dystrophy

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

Aliases & Classifications for Muscular Dystrophy

MalaCards integrated aliases for Muscular Dystrophy:

Name: Muscular Dystrophy 12 72 72 49 50 28 40 3 14 69
Muscular Dystrophies 51 41

Classifications:



External Ids:

Disease Ontology 12 DOID:9884
ICD10 32 G71.0
ICD9CM 34 359.1
MeSH 41 D009136
NCIt 46 C84910
UMLS 69 C0026850

Summaries for Muscular Dystrophy

NINDS : 50 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 c, 5, and has symptoms including torticollis, sciatica 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 Ramipril and Carvedilol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and brain, and related phenotypes are behavior/neurological and cardiovascular system

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

NIH Rare Diseases : 49 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 : 40 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.

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

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

(show top 50) (show all 507)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 35.0 DAG1 DMD DYSF FKTN LAMA2 SGCA
2 muscular dystrophy-dystroglycanopathy , type c, 5 35.0 CAPN3 DYSF FKRP LAMA2
3 muscular dystrophy, limb-girdle, type 1b 34.9 CAV3 EMD LMNA
4 muscular dystrophy, duchenne type 34.9 CAV3 DAG1 DMD FKTN LAMA2 SGCA
5 muscular dystrophy, limb-girdle, type 2c 34.9 CAPN3 DAG1 DMD DYSF SGCA SGCG
6 muscular dystrophy-dystroglycanopathy , type c, 4 34.9 FKRP FKTN POMT2
7 muscular dystrophy, limb-girdle, type 2d 34.8 CAPN3 DYSF FKRP SGCA SGCB SGCG
8 muscular dystrophy-dystroglycanopathy , type a, 4 34.8 DAG1 DMD FKRP FKTN LAMA2 POMT1
9 muscular dystrophy, limb-girdle, type 2g 34.8 CAPN3 DYSF FKRP MYOT
10 muscular dystrophy, limb-girdle, type 2j 34.8 CAPN3 FKRP MYOT
11 muscular dystrophy, limb-girdle, type 1a 34.8 CAPN3 CAV3 FKRP MYOT
12 emery-dreifuss muscular dystrophy 2, autosomal dominant 34.8 EMD LMNA
13 autosomal recessive limb-girdle muscular dystrophy type 2e 34.7 CAPN3 SGCB SGCG
14 muscular dystrophy, limb-girdle, type 2l 34.7 DYSF FKRP FKTN POMT1 POMT2
15 muscular dystrophy, limb-girdle, type 1c 34.7 CAV3 DYSF FKRP
16 ullrich congenital muscular dystrophy 1 34.7 CAPN3 COL6A2 LAMA2 LMNA SELENON
17 muscular dystrophy, limb-girdle, type 1e 34.7 CAV3 FKRP MYOT
18 muscular dystrophy, limb-girdle, type 2a 34.7 CAPN3 CAV3 DMD DYSF FKRP LMNA
19 muscular dystrophy, limb-girdle, type 2h 34.7 CAPN3 DYSF FKRP
20 muscular dystrophy, limb-girdle, type 1f 34.7 CAV3 MYOT
21 muscular dystrophy-dystroglycanopathy , type a, 1 34.7 FKRP FKTN POMT1 POMT2
22 rigid spine muscular dystrophy 1 34.6 COL6A2 DMD DYSF LAMA2 SELENON
23 muscular dystrophy, congenital merosin-deficient, 1a 34.6 DAG1 DMD FKTN LAMA2 LMNA SGCA
24 muscular dystrophy-dystroglycanopathy , type c, 1 34.6 POMT1 POMT2
25 autosomal dominant limb-girdle muscular dystrophy type 1c 34.6 CAV3 DYSF FKRP MYOT
26 miyoshi muscular dystrophy 1 34.6 CAPN3 DYSF
27 fukuyama type muscular dystrophy 34.6 FKRP FKTN
28 muscular dystrophy-dystroglycanopathy , type b, 6 34.6 DAG1 DMD FKRP FKTN LAMA2 POMT1
29 muscular dystrophy-dystroglycanopathy , type c, 2 34.6 POMT1 POMT2
30 muscular dystrophy, limb-girdle, type 2f 34.6 CAPN3 DMD DYSF FKRP SGCA SGCB
31 distal muscular dystrophy 34.5 CAPN3 CAV3 DMD DYSF MYOT
32 autosomal recessive limb-girdle muscular dystrophy type 2h 34.5 CAPN3 DYSF FKRP MYOT SGCG
33 muscular dystrophy, limb-girdle, type 2b 34.5 CAPN3 CAV3 DMD DYSF FKRP MYOT
34 autosomal recessive limb-girdle muscular dystrophy type 2b 34.5 CAPN3 CAV3 DYSF SGCA SGCG
35 autosomal recessive limb-girdle muscular dystrophy type 2f 34.5 CAPN3 DYSF SGCA SGCB SGCG
36 muscular dystrophy, congenital, 1b 34.5 DAG1 DMD FKRP FKTN LAMA2
37 autosomal dominant limb-girdle muscular dystrophy 34.5 CAV3 EMD LMNA MYOT
38 autosomal recessive limb-girdle muscular dystrophy 34.4 CAPN3 CAV3 DMD DYSF FKRP POMT1
39 muscular dystrophy, congenital, lmna-related 34.4 COL6A2 DAG1 EMD FKRP FKTN LAMA2
40 muscular dystrophy-dystroglycanopathy , type b, 5 34.4 CAV3 DAG1 DMD FKRP FKTN LAMA2
41 limb-girdle muscular dystrophy 34.2 CAPN3 CAV3 DMD DYSF FKRP FKTN
42 muscular dystrophy-dystroglycanopathy 34.1 FKRP POMT1 POMT2
43 congenital muscular dystrophy without intellectual disability 33.9 FKRP FKTN POMT1
44 bethlem myopathy 1 33.8 CAPN3 COL6A2 DMD DYSF LMNA SELENON
45 congenital muscular dystrophy with intellectual disability 33.8 FKRP POMT1 POMT2
46 congenital muscular dystrophy with cerebellar involvement 33.8 FKRP POMT1 POMT2
47 walker-warburg syndrome 33.7 DAG1 DMD FKRP FKTN LAMA2 POMT1
48 muscle eye brain disease 33.3 DAG1 DMD FKRP FKTN LAMA2 POMT1
49 dysferlinopathy 33.0 CAPN3 DYSF
50 muscle disorders 32.6 CAV3 COL6A2 SELENON

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:


torticollis, sciatica, myoclonus, muscle cramp, back pain

MGI Mouse Phenotypes related to Muscular Dystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 EMD FKRP COL6A2 DAG1 FKTN DMD
2 cardiovascular system MP:0005385 10.18 CAPN3 EMD CAV3 FKRP DAG1 DMD
3 cellular MP:0005384 10.15 EMD CAV3 FKRP DAG1 FKTN DMD
4 growth/size/body region MP:0005378 10.1 CAPN3 FKRP DAG1 FKTN DMD LAMA2
5 homeostasis/metabolism MP:0005376 10.1 CAPN3 EMD CAV3 FKRP DAG1 FKTN
6 immune system MP:0005387 9.9 DYSF CAV3 FKRP FKTN DMD LAMA2
7 muscle MP:0005369 9.86 EMD CAV3 FKRP DAG1 FKTN DMD
8 normal MP:0002873 9.23 CAPN3 FKRP DAG1 DMD LMNA MYOT

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,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
7 Adrenergic Agents Phase 4,Phase 3
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
13 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
14 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Vitamins Phase 4,Phase 2,Phase 3
16 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
17 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
18 Antihypertensive Agents Phase 4,Phase 3,Phase 2
19 Bone Density Conservation Agents Phase 4,Phase 3,Phase 1
20 Calcium, Dietary Phase 4,Phase 3
21 Risedronate Sodium Phase 4 115436-72-1
22 Diphosphonates Phase 4,Phase 3
23 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Antibiotics, Antitubercular Phase 4
26 Deflazacort Approved, Investigational Phase 2, Phase 3, Phase 1 14484-47-0
27
Prednisone Approved, Vet_approved Phase 3,Phase 1,Phase 2 53-03-2 5865
28
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
29
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
30
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 4091 14219
31
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
32
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
33
Enalaprilat Approved Phase 3 76420-72-9 6917719
34
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
35
Eplerenone Approved Phase 3 107724-20-9 443872 150310
36
Methylphenidate Approved, Investigational Phase 2, Phase 3 20748-11-2, 113-45-1 4158
37
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
38
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
39
Zoledronic acid Approved Phase 3 118072-93-8 68740
40
Nebivolol Approved, Investigational Phase 3 152520-56-4, 118457-14-0, 99200-09-6 71301
41
Tamoxifen Approved Phase 3,Phase 1 10540-29-1 2733526
42
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 54670067 5785
43 tannic acid Approved, Nutraceutical Phase 3
44
Creatine Approved, Investigational, Nutraceutical Phase 2, Phase 3 57-00-1 586
45
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
46
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
47
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
48 diuretics Phase 3,Phase 1
49 Micronutrients Phase 3,Phase 2
50 Natriuretic Agents Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 396)

# 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 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
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 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
13 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
14 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
15 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
16 Continuation Protocol to Protocol BBCO-001 Completed NCT02328482 Phase 3 Cabaletta 30gr
17 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
18 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
19 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
20 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
21 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
22 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
23 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
24 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
25 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
26 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
27 Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
28 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
29 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
30 Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of BMS-986089 in Ambulatory Boys With Duchenne Muscular Dystrophy Active, not recruiting NCT03039686 Phase 2, Phase 3
31 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
32 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
33 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3 Eplerenone;Spironolactone
34 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
35 Confirmatory Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
36 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Active, not recruiting NCT02878694 Phase 2, Phase 3
37 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
38 A Research Study of Zoledronic Acid in Children and Adolescents With Osteoporosis Active, not recruiting NCT00799266 Phase 3 Zoledronic acid;Placebo
39 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3 Ataluren
40 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
41 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
42 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
43 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3 Ataluren
44 Tamoxifen in Duchenne Muscular Dystrophy Not yet recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
45 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
46 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
47 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
48 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
49 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone
50 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3

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 28

Anatomical Context for Muscular Dystrophy

MalaCards organs/tissues related to Muscular Dystrophy:

38
Skeletal Muscle, Heart, Brain, Testes, Bone, Skin, Eye

Publications for Muscular Dystrophy

Articles related to Muscular Dystrophy:

(show top 50) (show all 4155)
# Title Authors Year
1
Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. ( 29398641 )
2018
2
Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report. ( 29387327 )
2018
3
Evolution of respiratory function in Duchenne muscular dystrophy from childhood to adulthood. ( 29437939 )
2018
4
BRANCHED FIBERS FROM OLD FAST-TWITCH DYSTROPHIC MUSCLES ARE THE SITES OF TERMINAL DAMAGE IN MUSCULAR DYSTROPHY. ( 29412689 )
2018
5
Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing. ( 29404407 )
2018
6
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. ( 29395989 )
2018
7
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
8
A novel PLEC nonsense homozygous mutation (c.7159Ga88>a88T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. ( 29352809 )
2018
9
Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy. ( 29441734 )
2018
10
Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy. ( 29434565 )
2018
11
Measurement of respiratory function decline in patients with Duchenne muscular dystrophy: a conjoint analysis. ( 29412787 )
2018
12
Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. ( 29395990 )
2018
13
Repairing folding-defective I+-sarcoglycan mutants by CFTR correctors, a potential therapy for Limb Girdle Muscular Dystrophy 2D. ( 29351619 )
2018
14
FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1. ( 29436205 )
2018
15
Mobility shift of beta-dystroglycan as a marker of<i>GMPPB</i>gene-related muscular dystrophy. ( 29437916 )
2018
16
Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation. ( 29402602 )
2018
17
Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies. ( 29067654 )
2018
18
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
19
Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy. ( 29426391 )
2018
20
A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy. ( 29415061 )
2018
21
Regulation of fibrosis in muscular dystrophy. ( 29408413 )
2018
22
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. ( 28214269 )
2017
23
Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity. ( 28263188 )
2017
24
Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S. ( 28827486 )
2017
25
The natural history of the patients with Duchenne muscular dystrophy in Taiwan: A medical center experience. ( 28903883 )
2017
26
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
27
Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy. ( 28778101 )
2017
28
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
29
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. ( 28067909 )
2017
30
Mechanical insufflation-exsufflation for an individual with Duchenne muscular dystrophy and a lower respiratory infection. ( 27999675 )
2017
31
Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation. ( 28794355 )
2017
32
Exon skipping: a first in class strategy for Duchenne muscular dystrophy. ( 27936976 )
2017
33
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients. ( 28931339 )
2017
34
Oropharyngeal dysphagia profiles in individuals with oculopharyngeal muscular dystrophy. ( 29144056 )
2017
35
A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. ( 28247318 )
2017
36
Mutation-Based Therapy for Duchenne Muscular Dystrophy: Antisense Treatment Arrives in the Clinic. ( 28893959 )
2017
37
Genomic integration of the full-length dystrophin coding sequence in Duchenne muscular dystrophy induced pluripotent stem cells. ( 28139886 )
2017
38
SEXUALLY DIMORPHIC SKELETAL MUSCLE AND CARDIAC DYSFUNCTION IN A MOUSE MODEL OF LIMB GIRDLE MUSCULAR DYSTROPHY 2I. ( 28663375 )
2017
39
Repair of an inguinoscrotal hernia in a patient with Becker muscular dystrophy. ( 28098058 )
2017
40
Myocardial Fibrosis in Duchenne and Becker Muscular Dystrophy-Reply. ( 28492933 )
2017
41
Improvements in motor tasks through the use of smartphone technology for individuals with Duchenne muscular dystrophy. ( 28860778 )
2017
42
Pre-clinical evaluation of N-acetylcysteine reveals side effects in the mdx mouse model of Duchenne muscular dystrophy. ( 28887840 )
2017
43
Intermittent Glucocorticoid Dosing Improves Muscle Repair and Function in Mice with Limb-Girdle Muscular Dystrophy. ( 28823869 )
2017
44
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. ( 28079318 )
2017
45
Epigenetic Regulators Modulate Muscle Damage in Duchenne Muscular Dystrophy Model. ( 29399383 )
2017
46
Growing patients with Duchenne muscular dystrophy: longitudinal changes in their dentofacial morphology and orofacial functional capacities. ( 28520860 )
2017
47
"Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 28472864 )
2017
48
Evaluation of the behavioral characteristics of the mdx mouse model of duchenne muscular dystrophy through operant conditioning procedures. ( 28532665 )
2017
49
Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy. ( 28984111 )
2017
50
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. ( 28702169 )
2017

Variations for Muscular Dystrophy

ClinVar genetic disease variations for Muscular Dystrophy:

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

Pathways related to Muscular Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 DAG1 DMD LAMA2 SGCA SGCB SGCG
2
Show member pathways
12.45 CAPN3 COL6A2 DAG1 DMD LAMA2 PLEC
3
Show member pathways
12.19 CAPN3 DAG1 DMD LMNA
4
Show member pathways
11.8 DAG1 DMD EMD LAMA2 LMNA SGCA
5
Show member pathways
11.68 CAPN3 DAG1 DMD EMD LAMA2 LMNA
6
Show member pathways
11.41 DAG1 DMD LAMA2
7 10.82 FKRP FKTN POMT1 POMT2
8 10.8 POMT1 POMT2
9 10.71 DAG1 DMD LAMA2

GO Terms for Muscular Dystrophy

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.83 COL6A2 DAG1 LAMA2 LMNA PLEC
2 membrane raft GO:0045121 9.76 CAV3 DAG1 DMD SGCA
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)
# 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 9.61 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 skeletal muscle tissue regeneration GO:0043403 9.54 DAG1 DMD SGCA
12 plasma membrane repair GO:0001778 9.52 CAV3 DYSF
13 cardiac muscle cell development GO:0055013 9.51 CAV3 SGCB
14 muscle cell cellular homeostasis GO:0046716 9.5 CAPN3 CAV3 DMD
15 nucleus localization GO:0051647 9.48 CAV3 DMD
16 regulation of skeletal muscle contraction GO:0014819 9.46 CAV3 DMD
17 protein O-linked mannosylation GO:0035269 9.46 FKRP FKTN POMT1 POMT2
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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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