MCID: MSC005
MIFTS: 65

Muscular Dystrophy malady

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

Aliases & Classifications for Muscular Dystrophy

Aliases & Descriptions for Muscular Dystrophy:

Name: Muscular Dystrophy 12 71 50 51 29 41 3 14 69
Muscular Dystrophies 52 42

Classifications:



External Ids:

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

Summaries for Muscular Dystrophy

NINDS : 51 The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. 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  MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin. 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. 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-dystroglycanopathy , type c, 1 and autosomal dominant limb-girdle muscular dystrophy type 1c, and has symptoms including back pain, muscle cramp and myoclonus. An important gene associated with Muscular Dystrophy is DMD (Dystrophin), and among its related pathways/superpathways are Degradation of the extracellular matrix and Allograft rejection. 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 : 50 muscular dystrophy (md) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. some forms of md are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. the disorders differ in terms of the distribution and extent of muscle weakness (some forms of md also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. the prognosis for people with md varies according to the type and progression of the disorder. there is no specific treatment to stop or reverse any form of md. treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities. last updated: 2/16/2011

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

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

Wikipedia : 71 Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown... more...

Related Diseases for Muscular Dystrophy

Diseases in the Muscular Dystrophy family:

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

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

(show top 50) (show all 492)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 1 34.1 FKRP FKTN POMT1
2 autosomal dominant limb-girdle muscular dystrophy type 1c 33.7 DYSF FKRP TRIM32
3 ullrich congenital muscular dystrophy 1 33.6 COL6A2 DMD DYSF LAMA2 LMNA
4 autosomal recessive limb-girdle muscular dystrophy type 2f 33.5 CAV3 EMD LMNA MYOT
5 muscular dystrophy, rigid spine, 1 33.4 COL6A2 DMD DYSF LAMA2 SELENON
6 autosomal recessive limb-girdle muscular dystrophy type 2x 33.3 DYSF FKRP SGCA SGCD SGCG
7 autosomal recessive limb-girdle muscular dystrophy type 2w 33.2 CAV3 DYSF FKRP MYOT SGCA TRIM32
8 muscular dystrophy, limb-girdle, type 1b 33.2 COL6A2 DAG1 DMD FKRP FKTN LAMA2
9 autosomal recessive limb-girdle muscular dystrophy type 2h 32.9 CAV3 DMD DYSF FKRP POMT1 SGCA
10 emery-dreifuss muscular dystrophy, dominant type 32.8 DAG1 DMD EMD FKRP FKTN LAMA2
11 rippling muscle disease 31.5 CAV3 DYSF FKRP
12 ptosis 30.6 CAV3 DYSF
13 mandibuloacral dysplasia 29.8 CAV3 EMD LMNA
14 familial partial lipodystrophy 29.8 DMD EMD LMNA SGCA
15 myopathy, distal, with anterior tibial onset 29.5 CAV3 DMD DYSF FKRP MYOT SGCA
16 malignant hyperthermia susceptibility 29.2 CAV3 DYSF LMNA MYOT SGCA SGCB
17 duchenne muscular dystrophy 12.6
18 becker muscular dystrophy 12.5
19 oculopharyngeal muscular dystrophy 12.5
20 muscular dystrophy, limb-girdle, type 2e 12.5
21 emery-dreifuss muscular dystrophy 12.5
22 facioscapulohumeral muscular dystrophy 1 12.4
23 limb-girdle muscular dystrophy 12.4
24 muscular dystrophy-dystroglycanopathy , type a, 4 12.4
25 muscular dystrophy-dystroglycanopathy , type c, 5 12.4
26 muscular dystrophy, limb-girdle, type 2c 12.4
27 muscular dystrophy-dystroglycanopathy , type c, 2 12.3
28 muscular dystrophy, limb-girdle, type 2q 12.3
29 muscular dystrophy-dystroglycanopathy , type c, 3 12.3
30 muscular dystrophy-dystroglycanopathy , type c, 9 12.3
31 muscular dystrophy-dystroglycanopathy , type c, 14 12.3
32 muscular dystrophy, limb-girdle, type 1e 12.3
33 muscular dystrophy, limb-girdle, type 2d 12.3
34 tibial muscular dystrophy, tardive 12.3
35 muscular dystrophy, congenital 12.3
36 muscular dystrophy, limb-girdle, type 1a 12.3
37 muscular dystrophy-dystroglycanopathy , type c, 4 12.3
38 muscular dystrophy, limb-girdle, type 1f 12.3
39 muscular dystrophy, limb-girdle, type 2a 12.3
40 limb-girdle muscular dystrophy, type 1g 12.3
41 epidermolysis bullosa simplex with muscular dystrophy 12.3
42 muscular dystrophy-dystroglycanopathy , type c, 7 12.3
43 muscular dystrophy, limb-girdle, type 1h 12.3
44 muscular dystrophy, limb-girdle, type 2g 12.3
45 autosomal recessive limb-girdle muscular dystrophy 12.3
46 miyoshi muscular dystrophy 1 12.3
47 muscular dystrophy, limb-girdle, type 2b 12.3
48 muscular dystrophy, limb-girdle, type 2l 12.3
49 muscular dystrophy, limb-girdle, type 2j 12.3
50 muscular dystrophy, limb-girdle, type 2r 12.3

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



Diseases related to Muscular Dystrophy

Symptoms & Phenotypes for Muscular Dystrophy

UMLS symptoms related to Muscular Dystrophy:


back pain, muscle cramp, myoclonus, sciatica, torticollis

MGI Mouse Phenotypes related to Muscular Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 DAG1 DMD DYSF EMD FKRP FKTN
2 cardiovascular system MP:0005385 10.11 CAV3 DAG1 DMD EMD LMNA PLEC
3 cellular MP:0005384 10.06 CAV3 DAG1 DMD EMD FKRP FKTN
4 growth/size/body region MP:0005378 10.03 LAMA2 LMNA PLEC SELENON SGCB SGCG
5 homeostasis/metabolism MP:0005376 10 CAV3 DAG1 DMD DYSF FKRP FKTN
6 immune system MP:0005387 9.7 DYSF FKRP FKTN LAMA2 LMNA PLEC
7 muscle MP:0005369 9.55 SGCD SGCG TRIM32 CAV3 DAG1 DMD

Drugs & Therapeutics for Muscular Dystrophy

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

(show top 50) (show all 257)
id 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
Salmon Calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
6
protease inhibitors Phase 4,Phase 3,Phase 2
7 Adrenergic Agents Phase 4,Phase 3
8 Adrenergic Antagonists Phase 4
9 Adrenergic alpha-1 Receptor Antagonists Phase 4
10 Adrenergic alpha-Antagonists Phase 4
11 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
12 Adrenergic beta-Antagonists Phase 4
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 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
16 Vitamins Phase 4,Phase 2,Phase 3
17 Antihypertensive Agents Phase 4,Phase 3,Phase 2
18 Bone Density Conservation Agents Phase 4,Phase 3,Phase 1
19 Calcium, Dietary Phase 4,Phase 3
20 vitamin d Phase 4
21 Calcitonin Gene-Related Peptide Phase 4
22 calcitonin Phase 4
23 Risedronate Sodium Phase 4 115436-72-1
24 Diphosphonates Phase 4,Phase 3
25 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
26 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
27 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
28 Antibiotics, Antitubercular Phase 4
29
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
30
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
31
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
32
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
33
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7 5362119
34
Enalaprilat Approved Phase 3 76420-72-9 6917719
35
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
36
Eplerenone Approved Phase 3 107724-20-9 150310 443872
37
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
38 Deflazacort Approved Phase 2, Phase 3, Phase 1 14484-47-0
39 Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
40
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
41
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
42
Zoledronic acid Approved Phase 3 118072-93-8 68740
43
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
44
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
45 tannic acid Approved, Nutraceutical Phase 3
46
Dehydroepiandrosterone Approved, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
47
Creatine Approved, Nutraceutical Phase 2, Phase 3 57-00-1 586
48 diuretics Phase 3,Phase 1
49 Natriuretic Agents Phase 3,Phase 1
50 Trace Elements Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 395)
id Name Status NCT ID Phase
1 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4
2 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4
3 Tadalafil in Becker Muscular Dystrophy Completed NCT01070511 Phase 4
4 PDE5 Inhibition to Alleviate Functional Muscle Ischemia in Becker Muscular Dystrophy Completed NCT02207283 Phase 4
5 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4
6 Efficacy and Safety of Salmon Calcitonin Nasal Spray in Improving Muscle Strength and Reducing Pain After Forearm Fracture in Postmenopausal Women Completed NCT00239889 Phase 4
7 Stacking Exercises Aid the Decline in FVC and Sick Time Active, not recruiting NCT01999075 Phase 4
8 Autonomic Dysfunction and Spinal Cord Stimulation in Complex Regional Pain Syndrome Terminated NCT00780390 Phase 4
9 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
10 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
11 Surgical Treatment Of Complex Regional Pain Syndrome Type II (CRPS II) Unknown status NCT01392599 Phase 3
12 High-dose Prednisone in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3
13 L-citrulline and Metformin in Duchenne's Muscular Dystrophy Completed NCT01995032 Phase 3
14 A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3
15 Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Completed NCT00592553 Phase 2, Phase 3
16 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3
17 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3
18 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3
19 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
20 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3
21 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3
22 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3
23 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
24 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3
25 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3
26 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3
27 Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of BMS-986089 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3
28 A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids Recruiting NCT02814019 Phase 3
29 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3
30 1 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Recruiting NCT01197300 Phase 3
31 A Research Study of Zoledronic Acid in Children and Adolescents With Osteoporosis Recruiting NCT00799266 Phase 3
32 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3
33 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3
34 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3
35 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3
36 Confirmatory Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3
37 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Active, not recruiting NCT02878694 Phase 2, Phase 3
38 Continuation Protocol to Protocol BBCO-001 Active, not recruiting NCT02328482 Phase 3
39 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3
40 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3
41 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
42 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Active, not recruiting NCT02377921 Phase 3
43 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3
44 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3
45 Study to Evaluate the Safety and Efficacy of Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Enrolling by invitation NCT02736188 Phase 3
46 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Not yet recruiting NCT02851797 Phase 3
47 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Not yet recruiting NCT03179631 Phase 3
48 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3
49 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3
50 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 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:

id Genetic test Affiliating Genes
1 Muscular Dystrophy 29

Anatomical Context for Muscular Dystrophy

MalaCards organs/tissues related to Muscular Dystrophy:

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

Publications for Muscular Dystrophy

Articles related to Muscular Dystrophy:

(show top 50) (show all 4020)
id Title Authors Year
1
Using Administrative Data to Ascertain True Cases of Muscular Dystrophy: Rare Disease Surveillance. ( 28082256 )
2017
2
A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. ( 28247318 )
2017
3
The Direct Cost of Managing a Rare Disease: Assessing Medical and Pharmacy Costs Associated with Duchenne Muscular Dystrophy in the United States. ( 28530521 )
2017
4
Resting Energy Expenditure in Adults with Becker's Muscular Dystrophy. ( 28060911 )
2017
5
Potential Therapeutic Action of Adiponectin in Duchenne Muscular Dystrophy. ( 28463682 )
2017
6
A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy. ( 28288529 )
2017
7
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-SjAPgren Syndrome and Dystroglycanopathy. ( 28190459 )
2017
8
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. ( 28214269 )
2017
9
Towards a short questionnaire for stepwise assessment of upper limb function, pain and stiffness in Duchenne muscular dystrophy. ( 28084836 )
2017
10
First Drug Approved for Duchenne Muscular Dystrophy. ( 28030401 )
2017
11
Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy. ( 27979502 )
2017
12
PABPN1 gene therapy for oculopharyngeal muscular dystrophy. ( 28361972 )
2017
13
Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1. ( 28303574 )
2017
14
Does Body Mass Index Predict Premature Cardiomyopathy Onset for Duchenne Muscular Dystrophy? ( 28084148 )
2017
15
Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged a8o3 Years: A Retrospective Study. ( 28533764 )
2017
16
The golden retriever model of Duchenne muscular dystrophy. ( 28526070 )
2017
17
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I. ( 27872178 )
2017
18
Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy. ( 28505980 )
2017
19
Electrical impedance myography for assessment of Duchenne muscular dystrophy. ( 28076894 )
2017
20
Relationship Between Fragmented QRS Complexes and Cardiac Status in Duchenne Muscular Dystrophy: Multimodal Validation Using Echocardiography, Magnetic Resonance Imaging, and Holter Monitoring. ( 28456833 )
2017
21
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. ( 28069046 )
2017
22
Effectiveness of Coenzyme Q10 on echocardiographic parameters of patients with Duchenne muscular dystrophy. ( 28461862 )
2017
23
Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy. ( 28316128 )
2017
24
Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy. ( 28427448 )
2017
25
Androgen Receptor Agonists Increase Lean Mass, Improve Cardiopulmonary Functions, and Extend Survival in Preclinical Models of Duchenne Muscular Dystrophy. ( 28453658 )
2017
26
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. ( 28067909 )
2017
27
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
28
Exon skipping: a first in class strategy for Duchenne muscular dystrophy. ( 27936976 )
2017
29
Two Cases of Duchenne Muscular Dystrophy That Showed Different Reactions to Nerve Stimulation During Peripheral Nerve Block: A Case Report. ( 28459722 )
2017
30
Abnormal lipid metabolism in skeletal muscle tissue of patients with muscular dystrophy: In vitro, high-resolution NMR spectroscopy based observation in early phase of the disease. ( 28069416 )
2017
31
Pharmacological Inhibition of PKCI, Counteracts Muscle Disease in a Mouse Model of Duchenne Muscular Dystrophy. ( 28089792 )
2017
32
Anti-HMGCR necrotizing myopathy masquerading as a muscular dystrophy in a child. ( 28066895 )
2017
33
Pharmacological advances for treatment in Duchenne muscular dystrophy. ( 28486179 )
2017
34
A Novel NF-I_B Inhibitor, Edasalonexent (CAT-1004), in Development as a Disease-Modifying Treatment for Patients With Duchenne Muscular Dystrophy: Phase 1 Safety, Pharmacokinetics, and Pharmacodynamics in Adult Subjects. ( 28074489 )
2017
35
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. ( 28433477 )
2017
36
Correlation of Serum Creatine Kinase Level With Pulmonary Function in Duchenne Muscular Dystrophy. ( 28503465 )
2017
37
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. ( 28079318 )
2017
38
Genomic integration of the full-length dystrophin coding sequence in Duchenne muscular dystrophy induced pluripotent stem cells. ( 28139886 )
2017
39
Newborn screening for Duchenne muscular dystrophy in China: Follow-up diagnosis and subsequent treatment. ( 28466241 )
2017
40
Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway. ( 28472288 )
2017
41
Growing patients with Duchenne muscular dystrophy: longitudinal changes in their dentofacial morphology and orofacial functional capacities. ( 28520860 )
2017
42
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. ( 28190456 )
2017
43
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
44
Evaluation of the behavioral characteristics of the mdx mouse model of duchenne muscular dystrophy through operant conditioning procedures. ( 28532665 )
2017
45
Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy. ( 28043812 )
2017
46
Repression of phosphatidylinositol transfer protein I+ ameliorates the pathology of Duchenne muscular dystrophy. ( 28533404 )
2017
47
"Dysphagia-Related Quality of Life in Oculopharyngeal Muscular Dystrophy: Psychometric Properties of the SWAL-QOL Instrument. ( 28472864 )
2017
48
Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status. ( 28491099 )
2017
49
Myocardial Fibrosis in Duchenne and Becker Muscular Dystrophy. ( 28492916 )
2017
50
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. ( 28367954 )
2017

Variations for Muscular Dystrophy

ClinVar genetic disease variations for Muscular Dystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh37 Chromosome 14, 77745107: 77745107
2 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
3 CAPN3 NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
4 POMT2 NM_013382.5(POMT2): c.1577-5_1577-1delinsTGA indel Pathogenic rs797045898 GRCh38 Chromosome 14, 77283874: 77283878
5 POMT2 NM_013382.5(POMT2): c.678delG (p.Trp226Cysfs) deletion Pathogenic rs755660222 GRCh38 Chromosome 14, 77301228: 77301228
6 DMD NM_004006.2(DMD): c.(?_6439)-24498_(7873_?)-5329del deletion Pathogenic GRCh37 Chromosome X, 31681590: 32011129
7 CAPN3 NM_000070.2(CAPN3): c.1322delG (p.Gly441Valfs) deletion Pathogenic rs886042090 GRCh37 Chromosome 15, 42691818: 42691818

Copy number variations for Muscular Dystrophy from CNVD:

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

Expression for Muscular Dystrophy

Search GEO for disease gene expression data for Muscular Dystrophy.

Pathways for Muscular Dystrophy

GO Terms for Muscular Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 DAG1 DMD MYOT PLEC SGCA SGCB
2 sarcolemma GO:0042383 9.77 CAV3 COL6A2 DAG1 DMD DYSF FKRP
3 extracellular matrix GO:0031012 9.73 COL6A2 LAMA2 LMNA PLEC
4 membrane raft GO:0045121 9.71 CAV3 DAG1 DMD SGCA
5 Z disc GO:0030018 9.65 CAV3 DMD MYOT
6 sarcoglycan complex GO:0016012 9.56 SGCA SGCB SGCD SGCG
7 dystroglycan complex GO:0016011 9.55 DAG1 SGCA SGCB SGCD SGCG
8 costamere GO:0043034 9.5 DAG1 DMD PLEC
9 dystrophin-associated glycoprotein complex GO:0016010 9.17 CAV3 DAG1 DMD FKRP SGCA SGCB
10 membrane GO:0016020 10.33 CAV3 COL6A2 DAG1 DMD DYSF EMD

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.85 SGCA SGCB SGCD SGCG
2 extracellular matrix organization GO:0030198 9.8 COL6A2 DAG1 LAMA2 POMT1
3 cardiac muscle tissue development GO:0048738 9.59 SGCD SGCG
4 negative regulation of MAPK cascade GO:0043409 9.58 CAV3 DAG1
5 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.58 DMD SELENON
6 heart contraction GO:0060047 9.57 SGCD SGCG
7 muscle fiber development GO:0048747 9.56 DMD SGCB
8 mitotic nuclear envelope reassembly GO:0007084 9.54 EMD LMNA
9 muscle cell cellular homeostasis GO:0046716 9.54 CAV3 DMD TRIM32
10 plasma membrane repair GO:0001778 9.52 CAV3 DYSF
11 Schwann cell differentiation GO:0014037 9.51 DAG1 LAMA2
12 protein O-linked mannosylation GO:0035269 9.5 FKRP FKTN POMT1
13 muscle cell development GO:0055001 9.48 SGCD SGCG
14 cardiac muscle cell development GO:0055013 9.46 CAV3 SGCB
15 skeletal muscle tissue regeneration GO:0043403 9.46 DAG1 DMD SELENON SGCA
16 nucleus localization GO:0051647 9.43 CAV3 DMD
17 response to denervation involved in regulation of muscle adaptation GO:0014894 9.43 DAG1 DMD SGCA
18 muscle contraction GO:0006936 9.43 CAV3 DYSF EMD MYOT PABPN1 SGCA
19 regulation of skeletal muscle contraction GO:0014819 9.4 CAV3 DMD
20 muscle organ development GO:0007517 9.28 CAV3 DMD EMD FKTN LAMA2 SGCA

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

id Name GO ID Score Top Affiliating Genes
1 myosin binding GO:0017022 9.4 DMD TRIM32
2 alpha-actinin binding GO:0051393 9.37 DAG1 MYOT
3 actin binding GO:0003779 9.35 DAG1 DMD EMD MYOT PLEC
4 nitric-oxide synthase binding GO:0050998 9.32 CAV3 DMD
5 vinculin binding GO:0017166 9.26 DAG1 DMD
6 dystroglycan binding GO:0002162 9.16 DAG1 DMD
7 structural constituent of muscle GO:0008307 8.92 DAG1 DMD MYOT PLEC

Sources for Muscular Dystrophy

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