DMD
MCID: MSC157
MIFTS: 66

Muscular Dystrophy, Duchenne Type (DMD)

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

Aliases & Classifications for Muscular Dystrophy, Duchenne Type

MalaCards integrated aliases for Muscular Dystrophy, Duchenne Type:

Name: Muscular Dystrophy, Duchenne Type 58 6 39
Duchenne Muscular Dystrophy 58 39 12 77 54 60 76 38 30 13 6 15
Dmd 58 54 60 76 6
Muscular Dystrophy, Duchenne 12 54 45 74
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 58 54
Severe Dystrophinopathy, Duchenne Type 60
Dystrophy, Muscular, Duchenne Type 41
Muscular Dystrophy Duchenne 56

Characteristics:

Orphanet epidemiological data:

60
duchenne muscular dystrophy
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom),1-5/10000 (Europe),1-9/100000 (Ireland),1-9/100000 (Italy),1-9/100000 (Worldwide),1-9/100000 (Egypt),1-9/100000 (Japan),1-9/1000000 (South Africa),1-9/100000 (Denmark),1-9/100000 (Puerto rico); Age of onset: Childhood; Age of death: young Adult;

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
usual onset before age 6 years and death by age 20
incidence of 1 in 3,500 boys
about 20% of female mutation carriers may show mild muscle weakness
about 8% of female mutation carriers develop dilated cardiomyopathy


HPO:

33
muscular dystrophy, duchenne type:
Onset and clinical course childhood onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Muscular Dystrophy, Duchenne Type

NIH Rare Diseases : 54 Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles. Early signs of DMD may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable by 3 or 4 years of age and begins in the hips, pelvic area, upper legs, and shoulders. The calves may be enlarged. Children with DMD may have an unusual walk and difficulty running, climbing stairs, and getting up from the floor. DMD may also affect learning and memory, as well as communication and certain social emotional skills. Muscle weakness worsens with age and progresses to the arms, legs and trunk. Most children with DMD use a wheelchair full time by age 13. Heart and respiratory muscle problems begin in the teen years and lead to serious, life threatening complications. DMD is caused by changes (mutations) in the DMD gene. The DMD gene codes for the protein dystrophin. Dystrophin is mainly made in skeletal and heart muscle cells, but a small amount is also made in nerve cells (neurons) in specific parts of the brain. DMD is inherited in an X-linked recessive pattern; however, it may also occur in people who do not have a family history of DMD.  While there is no known cure for DMD, there are treatments that can help control symptoms. Due to the advancement of medical treatment, boys with DMD may now live into young adulthood.Becker muscular dystrophy (BMD) is also caused by mutations in the DMD gene. People with BMD have less severe symptoms than DMD. In addition, symptoms start later in childhood or in adolescence and progress more slowly.

MalaCards based summary : Muscular Dystrophy, Duchenne Type, also known as duchenne muscular dystrophy, is related to facioscapulohumeral muscular dystrophy 1 and polymyositis, and has symptoms including waddling gait and weakness. An important gene associated with Muscular Dystrophy, Duchenne Type is DMD (Dystrophin), and among its related pathways/superpathways is MicroRNAs in cancer. The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Umbilical Cord, and related phenotypes are respiratory insufficiency and scoliosis

Disease Ontology : 12 A muscular dystrophy that has material basis in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

OMIM : 58 Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy (BMD; 300376). Mapping and molecular genetic studies indicate that both are the result of mutations in the huge gene that encodes dystrophin, also symbolized DMD. Approximately two-thirds of the mutations in both forms are deletions of one or many exons in the dystrophin gene. Although there is no clear correlation found between the extent of the deletion and the severity of the disorder, DMD deletions usually result in frameshift. Boland et al. (1996) studied a retrospective cohort of 33 male patients born between 1953 and 1983. The mean age at DMD diagnosis was 4.6 years; wheelchair dependency had a median age of 10 years; cardiac muscle failure developed in 15% of patients with a median age of 21.5 years; smooth muscle dysfunction in the digestive or urinary tract occurred in 21% and 6% of the patients, respectively, at a median age of 15 years. In this cohort, death occurred at a median age of 17 years. The authors commented that the diagnosis of DMD is being made at an earlier age but survival has not changed. (310200)

UniProtKB/Swiss-Prot : 76 Duchenne muscular dystrophy: Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.

Wikipedia : 77 Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy. The symptom of muscle weakness... more...

Related Diseases for Muscular Dystrophy, Duchenne Type

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

(show top 50) (show all 255)
# Related Disease Score Top Affiliating Genes
1 facioscapulohumeral muscular dystrophy 1 32.9 DBET DMD MIR199B MIR29A
2 polymyositis 31.0 MIR127 MIR130A MIR210
3 autism spectrum disorder 30.7 MIR181D MIR432 MIR95
4 dermatomyositis 30.5 MIR130A MIR199B MIR210 MIR452 MIR487B MIR495
5 melanoma 29.8 MIR127 MIR199B MIR210 MIR95
6 cardiomyopathy, dilated, 3b 12.4
7 muscular dystrophy, becker type 12.1
8 chromosome xp21 deletion syndrome 11.7
9 glycerol kinase deficiency 11.7
10 adrenal hypoplasia, congenital 11.7
11 dilated cardiomyopathy 11.6
12 muscular disease 11.4
13 limb-girdle muscular dystrophy 11.4
14 dystrophinopathies 11.4
15 atrial standstill 1 11.3
16 scoliosis 11.3
17 arrhythmogenic right ventricular cardiomyopathy 11.2
18 miyoshi muscular dystrophy 11.2
19 myocarditis 11.2
20 myositis 11.1
21 walker-warburg syndrome 11.1
22 autosomal recessive limb-girdle muscular dystrophy 11.1
23 centronuclear myopathy 11.1
24 neuromuscular disease 11.1
25 bethlem myopathy 1 11.0
26 glycogen storage disease ii 11.0
27 muscular dystrophy-dystroglycanopathy , type a, 4 11.0
28 myopathy, congenital 11.0
29 aland island eye disease 11.0
30 rigid spine muscular dystrophy 1 11.0
31 reducing body myopathy 11.0
32 congenital fiber-type disproportion 11.0
33 myofibrillar myopathy 11.0
34 hypertrophic pyloric stenosis 11.0
35 pyloric stenosis 11.0
36 malignant hyperthermia 11.0
37 creatine phosphokinase, elevated serum 11.0
38 pectus excavatum 11.0
39 stormorken syndrome 11.0
40 muscular dystrophy-dystroglycanopathy , type a, 1 11.0
41 microcolon 11.0
42 mcleod syndrome 11.0
43 pettigrew syndrome 11.0
44 myopathy, x-linked, with excessive autophagy 11.0
45 myoglobinuria, recurrent 11.0
46 muscular dystrophy, limb-girdle, autosomal recessive 6 11.0
47 cardiomyopathy, dilated, 1d 11.0
48 muscular dystrophy, limb-girdle, autosomal recessive 7 11.0
49 muscular dystrophy, congenital, 1b 11.0
50 muscular dystrophy-dystroglycanopathy , type b, 5 11.0

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



Diseases related to Muscular Dystrophy, Duchenne Type

Symptoms & Phenotypes for Muscular Dystrophy, Duchenne Type

Human phenotypes related to Muscular Dystrophy, Duchenne Type:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002093
2 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
5 flexion contracture 60 33 hallmark (90%) Very frequent (99-80%) HP:0001371
6 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
7 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
8 specific learning disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001328
9 cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001638
10 waddling gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002515
11 motor delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001270
12 proximal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003701
13 progressive muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003323
14 calf muscle hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008981
15 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
16 muscular hypotonia 33 HP:0001252
17 hyperlordosis 33 HP:0003307
18 intellectual disability, mild 33 HP:0001256
19 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
20 arrhythmia 33 HP:0011675
21 congestive heart failure 33 HP:0001635
22 dilated cardiomyopathy 33 HP:0001644
23 respiratory failure 33 HP:0002878
24 hyporeflexia 33 HP:0001265
25 muscular dystrophy 33 HP:0003560
26 hypoventilation 33 HP:0002791
27 generalized hypotonia 33 HP:0001290
28 gowers sign 33 HP:0003391
29 calf muscle pseudohypertrophy 33 HP:0003707
30 abnormal ekg 33 HP:0003115

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
increased lordosis

Neurologic Peripheral Nervous System:
waddling gait
hyporeflexia
hypotonia
positive gowers sign

Muscle Soft Tissue:
calf muscle pseudohypertrophy
weakness

Laboratory Abnormalities:
high serum creatine kinase
abnormal electrocardiogram
absent dystrophin on muscle biopsy

Neurologic Central Nervous System:
mental retardation, mild (20% have more severe mental retardation)

Cardiovascular Heart:
congestive heart failure
cardiomyopathy, dilated

Respiratory Lung:
respiratory failure
pulmonary hypoventilation

Skeletal Limbs:
flexion contractures

Head And Neck Eyes:
red-green color defect in many patients with deletion downstream of exon 30

Clinical features from OMIM:

310200

UMLS symptoms related to Muscular Dystrophy, Duchenne Type:


waddling gait, weakness

Drugs & Therapeutics for Muscular Dystrophy, Duchenne Type

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

(show top 50) (show all 213)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
2
Ramipril Approved Phase 4 87333-19-5 5362129
3
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Early Phase 1,Not Applicable 171596-29-5 110635
4
Calcium Approved, Nutraceutical Phase 4,Not Applicable 7440-70-2 271
5 Adrenergic Antagonists Phase 4,Phase 2,Phase 3
6 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1
7 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
8 Adrenergic beta-Antagonists Phase 4,Phase 2,Phase 3
9 Adrenergic alpha-1 Receptor Antagonists Phase 4
10 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 calcium channel blockers Phase 4
12 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable
13 Adrenergic alpha-Antagonists Phase 4
14 Adrenergic Agents Phase 4,Phase 2,Phase 3,Not Applicable
15 Calcium, Dietary Phase 4,Not Applicable
16 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
17 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
19
protease inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
20 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
21 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
22 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
23 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
24 Antibiotics, Antitubercular Phase 4
25
Prednisone Approved, Vet_approved Phase 3,Phase 2,Phase 1 53-03-2 5865
26
Deflazacort Approved, Investigational Phase 3,Phase 1,Phase 2 14484-47-0
27
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
28
Benzocaine Approved, Investigational Phase 3,Not Applicable 94-09-7, 1994-09-7 2337
29
tannic acid Approved Phase 3,Not Applicable 1401-55-4
30
Eplerenone Approved Phase 3,Not Applicable 107724-20-9 150310 443872
31
Spironolactone Approved Phase 3,Phase 1 52-01-7, 1952-01-7 5833
32
Enalaprilat Approved Phase 3 76420-72-9 6917719
33
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
34
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
35
Lisinopril Approved, Investigational Phase 2, Phase 3,Not Applicable 83915-83-7, 76547-98-3 5362119
36
Zoledronic Acid Approved Phase 3 118072-93-8 68740
37
Tamoxifen Approved Phase 3,Phase 1 10540-29-1 2733526
38
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
39
Nebivolol Approved, Investigational Phase 3 118457-14-0, 99200-09-6, 152520-56-4 71301
40
Creatine Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Not Applicable 57-00-1 586
41
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3 303-98-0 5281915
42
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
43
Epigallocatechin Experimental, Investigational Phase 2, Phase 3 970-74-1 72277
44 Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
46 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
47 glucocorticoids Phase 3,Phase 2,Phase 1
48 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
49 Immunosuppressive Agents Phase 3,Phase 1
50 Hypoglycemic Agents Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 258)
# 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 Stacking Exercises Aid the Decline in FVC and Sick Time Completed NCT01999075 Phase 4
5 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
6 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
7 High-dose Prednisone in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
8 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
9 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
10 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
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 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
13 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
14 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
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 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
17 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
18 An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
19 1 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Completed NCT01197300 Phase 3 zoledronic acid
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 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
22 Tamoxifen in Duchenne Muscular Dystrophy Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
23 Phase III Study With Idebenone in Patients With Duchenne Muscular Dystrophy (SIDEROS-E) Recruiting NCT03603288 Phase 3 idebenone 150 mg film-coated tablets
24 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
25 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
26 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
27 Bisoprolol in DMD Early Cardiomyopathy Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
28 Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
29 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
30 Phase III Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy Recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
31 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
32 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
33 Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
34 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
35 An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03532542 Phase 3 Casimersen;Golodirsen
36 Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD) Enrolling by invitation NCT01247207 Phase 3 Ataluren
37 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
38 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
39 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
40 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone
41 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
42 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
43 A Study of Deflazacort (Emflaza®) in Participants With Duchenne Muscular Dystrophy (DMD) Withdrawn NCT03642145 Phase 3 Deflazacort
44 Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol Withdrawn NCT01890798 Phase 3 Drisapersen
45 Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy Unknown status NCT02285673 Phase 1, Phase 2
46 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
47 Safety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy Unknown status NCT01207908 Phase 1, Phase 2 IGF-1
48 Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy Unknown status NCT01834040 Phase 1, Phase 2
49 Efficacy, Safety, and Tolerability Rollover Study of Eteplirsen in Subjects With Duchenne Muscular Dystrophy Unknown status NCT01540409 Phase 2 AVI-4658 (Eteplirsen)
50 Phase II Study of NPC-14 (Arbekacin Sulfate) to Explore Safety, Tolerability, and Efficacy in Duchenne Muscular Dystrophy Unknown status NCT01918384 Phase 2 NPC-14;Placebo

Search NIH Clinical Center for Muscular Dystrophy, Duchenne Type

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Muscular Dystrophy, Duchenne Type cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: muscular dystrophy, duchenne

Genetic Tests for Muscular Dystrophy, Duchenne Type

Genetic tests related to Muscular Dystrophy, Duchenne Type:

# Genetic test Affiliating Genes
1 Duchenne Muscular Dystrophy 30 DMD

Anatomical Context for Muscular Dystrophy, Duchenne Type

MalaCards organs/tissues related to Muscular Dystrophy, Duchenne Type:

42
Heart, Skeletal Muscle, Bone, Brain, Testes, Smooth Muscle, Lung
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Muscular Dystrophy, Duchenne Type:
# Tissue Anatomical CompartmentCell Relevance
1 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
2 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate
3 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Muscular Dystrophy, Duchenne Type

Articles related to Muscular Dystrophy, Duchenne Type:

(show top 50) (show all 3183)
# Title Authors Year
1
Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy. ( 30904991 )
2019
2
A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet. ( 30650257 )
2019
3
Muscle Stem Cells Give Rise to Rhabdomyosarcomas in a Severe Mouse Model of Duchenne Muscular Dystrophy. ( 30650360 )
2019
4
Analysis of motor and respiratory function in Duchenne muscular dystrophy patients. ( 30660861 )
2019
5
Impairments in left ventricular mitochondrial bioenergetics precede overt cardiac dysfunction and remodelling in Duchenne muscular dystrophy. ( 30674086 )
2019
6
Speckle-Tracking Echocardiography in Children With Duchenne Muscular Dystrophy: A Prospective Multicenter Controlled Cross-Sectional Study. ( 30679141 )
2019
7
Creation of a novel algorithm to identify patients with Becker and Duchenne muscular dystrophy within an administrative database and application of the algorithm to assess cardiovascular morbidity. ( 30683166 )
2019
8
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy. ( 30688316 )
2019
9
sPIF promotes myoblast differentiation and utrophin expression while inhibiting fibrosis in Duchenne muscular dystrophy via the H19/miR-675/let-7 and miR-21 pathways. ( 30692507 )
2019
10
Effect of Yoga as an Add-on Therapy in the Modulation of Heart Rate Variability in Children with Duchenne Muscular Dystrophy. ( 30692784 )
2019
11
Inhibition of microRNA-92a increases blood vessels and satellite cells in skeletal muscle but does not improve DMD related phenotype in mdx mice. ( 30698289 )
2019
12
Identification of qPCR reference genes suitable for normalizing gene expression in the mdx mouse model of Duchenne muscular dystrophy. ( 30699165 )
2019
13
Effects of Mechanical Insufflation-Exsufflation on the Breathing Pattern in Stable Subjects With Duchenne Muscular Dystrophy: A Step in a Wrong Direction. ( 30705147 )
2019
14
Effects of Mechanical Insufflation-Exsufflation on the Breathing Pattern in Stable Subjects With Duchenne Muscular Dystrophy: "A Step Into New Knowledge". ( 30705148 )
2019
15
Twice weekly Glucocorticosteroids in Infants and Young boys with Duchenne Muscular Dystrophy. ( 30706490 )
2019
16
Intermittent PTH treatment improves bone and muscle in glucocorticoid treated Mdx mice: A model of Duchenne Muscular Dystrophy. ( 30716510 )
2019
17
23 Na MRI Depicts Early Changes in Ion Homeostasis in Skeletal Muscle Tissue of Patients With Duchenne Muscular Dystrophy. ( 30719784 )
2019
18
Gene therapies in canine models for Duchenne muscular dystrophy. ( 30734120 )
2019
19
Population Pharmacokinetics of Vamorolone (VBP15) in Healthy Men and Boys With Duchenne Muscular Dystrophy. ( 30742306 )
2019
20
Physical exertion exacerbates decline in the musculature of an animal model of Duchenne muscular dystrophy. ( 30755520 )
2019
21
Analysis of Different Device Interactions in a Virtual Reality Task in Individuals With Duchenne Muscular Dystrophy-A Randomized Controlled Trial. ( 30761066 )
2019
22
Skeletal disproportion in glucocorticoid-treated boys with Duchenne muscular dystrophy. ( 30762116 )
2019
23
The Role of Matrix Metalloproteinases and Tissue Inhibitors of Metalloproteinases in Duchenne Muscular Dystrophy Cardiomyopathy. ( 30763738 )
2019
24
Micro-dystrophin Genes Bring Hope of an Effective Therapy for Duchenne Muscular Dystrophy. ( 30765324 )
2019
25
Targeting angiogenesis in Duchenne muscular dystrophy. ( 30770952 )
2019
26
Exploring the relationship between electrical impedance myography and quantitative ultrasound parameters in Duchenne muscular dystrophy. ( 30772764 )
2019
27
Long-term evaluation of AAV-CRISPR genome editing for Duchenne muscular dystrophy. ( 30778238 )
2019
28
Correction to: Gene therapies in canine models for Duchenne muscular dystrophy. ( 30783825 )
2019
29
Correction: Correction: Wild-Type Mouse Models to Screen Antisense Oligonucleotides for Exon-Skipping Efficacy in Duchenne Muscular Dystrophy. ( 30785959 )
2019
30
Human Galectin-1 Improves Sarcolemma Stability and Muscle Vascularization in the mdx Mouse Model of Duchenne Muscular Dystrophy. ( 30788383 )
2019
31
Levosimendan as Rescue Therapy for Acute Heart Failure in a Patient with Duchenne Muscular Dystrophy. ( 30796500 )
2019
32
236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1-3 June 2018. ( 30803852 )
2019
33
Sunitinib promotes myogenic regeneration and mitigates disease progression in the mdx mouse model of duchenne muscular dystrophy. ( 30806670 )
2019
34
Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy. ( 30826157 )
2019
35
Mutation-Based Therapeutic Strategies for Duchenne Muscular Dystrophy: From Genetic Diagnosis to Therapy. ( 30836656 )
2019
36
Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride. ( 30846748 )
2019
37
Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study. ( 30852071 )
2019
38
Producing a preference-based quality of life measure for people with Duchenne muscular dystrophy: a mixed-methods study protocol. ( 30852532 )
2019
39
CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells. ( 30854433 )
2019
40
Fractures and Linear Growth in a Nationwide Cohort of Boys With Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results From the UK NorthStar Database. ( 30855644 )
2019
41
Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non Ambulatory Patients with Duchenne Muscular Dystrophy. ( 30856119 )
2019
42
Restoration of Walking After Surgical Management of Equinus in a Non-ambulatory Child with Duchenne Muscular Dystrophy: A Case Presentation. ( 30859710 )
2019
43
Effectiveness of High-Speed T2-Corrected Multiecho MR Spectroscopic Method for Quantifying Thigh Muscle Fat Content in Boys With Duchenne Muscular Dystrophy. ( 30860898 )
2019
44
T2 Mapping and Fat Quantification of Thigh Muscles in Children with Duchenne Muscular Dystrophy. ( 30868504 )
2019
45
The intracellular Ca2+ concentration is elevated in cardiomyocytes differentiated from hiPSCs derived from a Duchenne muscular dystrophy patient. ( 30875388 )
2019
46
Precision Medicine and Exercise Therapy in Duchenne Muscular Dystrophy. ( 30875955 )
2019
47
Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting. ( 30884219 )
2019
48
Empirical and Computational Comparison of Alternative Therapeutic Exon Skip Repairs for Duchenne Muscular Dystrophy. ( 30896926 )
2019
49
Increased Rates of Vitamin D Insufficiency in Boys With Duchenne Muscular Dystrophy Despite Higher Vitamin D3 Supplementation. ( 30906820 )
2019
50
Do porcine Sertoli cells represent an opportunity for Duchenne muscular dystrophy? ( 30912260 )
2019

Variations for Muscular Dystrophy, Duchenne Type

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Duchenne Type:

76
# Symbol AA change Variation ID SNP ID
1 DMD p.Leu54Arg VAR_005147
2 DMD p.Lys773Glu VAR_005154
3 DMD p.Asp645Gly VAR_023541
4 DMD p.Cys3313Phe VAR_023545
5 DMD p.Asp3335His VAR_023546
6 DMD p.Cys3340Tyr VAR_023547

ClinVar genetic disease variations for Muscular Dystrophy, Duchenne Type:

6 (show top 50) (show all 2125)
# Gene Variation Type Significance SNP ID Assembly Location
1 DMD NM_000109.3(DMD): c.7547G> A (p.Arg2516His) single nucleotide variant Benign/Likely benign rs151244052 GRCh37 Chromosome X, 31747837: 31747837
2 DMD NM_000109.3(DMD): c.7547G> A (p.Arg2516His) single nucleotide variant Benign/Likely benign rs151244052 GRCh38 Chromosome X, 31729720: 31729720
3 DMD NM_000109.3(DMD): c.1700T> C (p.Leu567Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs370644567 GRCh37 Chromosome X, 32591735: 32591735
4 DMD NM_000109.3(DMD): c.1700T> C (p.Leu567Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs370644567 GRCh38 Chromosome X, 32573618: 32573618
5 DMD NM_000109.3(DMD): c.1294G> A (p.Glu432Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs189143447 GRCh37 Chromosome X, 32662262: 32662262
6 DMD NM_000109.3(DMD): c.1294G> A (p.Glu432Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs189143447 GRCh38 Chromosome X, 32644145: 32644145
7 DMD NM_004006.2(DMD): c.1812+1G> A single nucleotide variant Pathogenic rs373286166 GRCh37 Chromosome X, 32591646: 32591646
8 DMD NM_004006.2(DMD): c.1812+1G> A single nucleotide variant Pathogenic rs373286166 GRCh38 Chromosome X, 32573529: 32573529
9 PKP2 NM_004572.3(PKP2): c.1468C> T (p.Arg490Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs149930872 GRCh38 Chromosome 12, 32843224: 32843224
10 PKP2 NM_004572.3(PKP2): c.1468C> T (p.Arg490Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs149930872 GRCh37 Chromosome 12, 32996158: 32996158
11 DMD NM_004006.2(DMD): c.7243C> T (p.Arg2415Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139395045 GRCh37 Chromosome X, 31838158: 31838158
12 DMD NM_004006.2(DMD): c.7243C> T (p.Arg2415Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs139395045 GRCh38 Chromosome X, 31820041: 31820041
13 DMD NM_004006.2(DMD): c.295A> G (p.Ile99Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149428656 GRCh37 Chromosome X, 32841474: 32841474
14 DMD NM_004006.2(DMD): c.295A> G (p.Ile99Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149428656 GRCh38 Chromosome X, 32823357: 32823357
15 DMD NM_004006.2(DMD): c.6452G> A (p.Gly2151Asp) single nucleotide variant Uncertain significance rs727503815 GRCh37 Chromosome X, 31986618: 31986618
16 DMD NM_004006.2(DMD): c.6452G> A (p.Gly2151Asp) single nucleotide variant Uncertain significance rs727503815 GRCh38 Chromosome X, 31968501: 31968501
17 DMD NM_004006.2(DMD): c.5010G> T (p.Trp1670Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs727503828 GRCh37 Chromosome X, 32383152: 32383152
18 DMD NM_004006.2(DMD): c.5010G> T (p.Trp1670Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs727503828 GRCh38 Chromosome X, 32365035: 32365035
19 DMD NM_004006.2(DMD): c.4806A> T (p.Gly1602=) single nucleotide variant Pathogenic rs727503830 GRCh37 Chromosome X, 32398666: 32398666
20 DMD NM_004006.2(DMD): c.4806A> T (p.Gly1602=) single nucleotide variant Pathogenic rs727503830 GRCh38 Chromosome X, 32380549: 32380549
21 DMD NM_004006.2(DMD): c.2199C> T (p.Ser733=) single nucleotide variant Benign/Likely benign rs149882431 GRCh37 Chromosome X, 32536218: 32536218
22 DMD NM_004006.2(DMD): c.2199C> T (p.Ser733=) single nucleotide variant Benign/Likely benign rs149882431 GRCh38 Chromosome X, 32518101: 32518101
23 DMD NM_004006.2(DMD): c.1252A> T (p.Thr418Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201341211 GRCh37 Chromosome X, 32662328: 32662328
24 DMD NM_004006.2(DMD): c.1252A> T (p.Thr418Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201341211 GRCh38 Chromosome X, 32644211: 32644211
25 DMD NM_004006.2(DMD): c.618A> G (p.Gln206=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503865 GRCh37 Chromosome X, 32827641: 32827641
26 DMD NM_004006.2(DMD): c.618A> G (p.Gln206=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503865 GRCh38 Chromosome X, 32809524: 32809524
27 DMD NM_004006.2(DMD): c.5701G> A (p.Ala1901Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201302282 GRCh37 Chromosome X, 32361289: 32361289
28 DMD NM_004006.2(DMD): c.5701G> A (p.Ala1901Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201302282 GRCh38 Chromosome X, 32343172: 32343172
29 DMD NM_004006.2(DMD): c.14_15delAAinsT (p.Glu5Valfs) indel Pathogenic rs796065325 GRCh37 Chromosome X, 33229415: 33229416
30 DMD NM_004006.2(DMD): c.14_15delAAinsT (p.Glu5Valfs) indel Pathogenic rs796065325 GRCh38 Chromosome X, 33211298: 33211299
31 DMD NM_004006.2(DMD): c.1070delC (p.Ser357Leufs) deletion Pathogenic rs794726994 GRCh37 Chromosome X, 32663160: 32663160
32 DMD NM_004006.2(DMD): c.1070delC (p.Ser357Leufs) deletion Pathogenic rs794726994 GRCh38 Chromosome X, 32645043: 32645043
33 DMD NM_004006.2(DMD): c.1286C> G (p.Ser429Ter) single nucleotide variant Pathogenic rs398123853 GRCh37 Chromosome X, 32662294: 32662294
34 DMD NM_004006.2(DMD): c.1286C> G (p.Ser429Ter) single nucleotide variant Pathogenic rs398123853 GRCh38 Chromosome X, 32644177: 32644177
35 DMD NM_004006.2(DMD): c.1704+1G> A single nucleotide variant Pathogenic rs794727123 GRCh37 Chromosome X, 32591861: 32591861
36 DMD NM_004006.2(DMD): c.1704+1G> A single nucleotide variant Pathogenic rs794727123 GRCh38 Chromosome X, 32573744: 32573744
37 DMD NM_004006.2(DMD): c.2096C> G (p.Ala699Gly) single nucleotide variant Benign rs202008454 GRCh37 Chromosome X, 32563348: 32563348
38 DMD NM_004006.2(DMD): c.2096C> G (p.Ala699Gly) single nucleotide variant Benign rs202008454 GRCh38 Chromosome X, 32545231: 32545231
39 DMD NM_004006.2(DMD): c.2261G> T (p.Gly754Val) single nucleotide variant Benign/Likely benign rs151242451 GRCh37 Chromosome X, 32536156: 32536156
40 DMD NM_004006.2(DMD): c.2261G> T (p.Gly754Val) single nucleotide variant Benign/Likely benign rs151242451 GRCh38 Chromosome X, 32518039: 32518039
41 DMD NM_004006.2(DMD): c.2380+10C> T single nucleotide variant Benign/Likely benign rs372330460 GRCh37 Chromosome X, 32519862: 32519862
42 DMD NM_004006.2(DMD): c.2380+10C> T single nucleotide variant Benign/Likely benign rs372330460 GRCh38 Chromosome X, 32501745: 32501745
43 DMD NM_004010.3(DMD): c.2012-3T> C single nucleotide variant Benign rs147931243 GRCh37 Chromosome X, 32509638: 32509638
44 DMD NM_004010.3(DMD): c.2012-3T> C single nucleotide variant Benign rs147931243 GRCh38 Chromosome X, 32491521: 32491521
45 DMD NM_004006.2(DMD): c.2539A> G (p.Thr847Ala) single nucleotide variant Uncertain significance rs138145424 GRCh37 Chromosome X, 32509477: 32509477
46 DMD NM_004006.2(DMD): c.2539A> G (p.Thr847Ala) single nucleotide variant Uncertain significance rs138145424 GRCh38 Chromosome X, 32491360: 32491360
47 DMD NM_004006.2(DMD): c.2575A> T (p.Thr859Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187926894 GRCh37 Chromosome X, 32509441: 32509441
48 DMD NM_004006.2(DMD): c.2575A> T (p.Thr859Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187926894 GRCh38 Chromosome X, 32491324: 32491324
49 DMD NM_004006.2(DMD): c.2745A> C (p.Thr915=) single nucleotide variant Benign/Likely benign rs149922633 GRCh37 Chromosome X, 32503094: 32503094
50 DMD NM_004006.2(DMD): c.2745A> C (p.Thr915=) single nucleotide variant Benign/Likely benign rs149922633 GRCh38 Chromosome X, 32484977: 32484977

Expression for Muscular Dystrophy, Duchenne Type

Search GEO for disease gene expression data for Muscular Dystrophy, Duchenne Type.

Pathways for Muscular Dystrophy, Duchenne Type

Pathways related to Muscular Dystrophy, Duchenne Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.58 MIR181D MIR199B MIR210 MIR29A MIR30D MIR423

GO Terms for Muscular Dystrophy, Duchenne Type

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.77 LY86 MIR127 MIR130A MIR181D MIR199B MIR210
2 micro-ribonucleoprotein complex GO:0035068 9.44 MIR127 MIR130A MIR199B MIR210 MIR22 MIR29A

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

# Name GO ID Score Top Affiliating Genes
1 miRNA mediated inhibition of translation GO:0035278 9.5 MIR181D MIR210 MIR29A
2 gene silencing by miRNA GO:0035195 9.47 MIR127 MIR130A MIR181D MIR199B MIR210 MIR22
3 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.46 MIR22 MIR495
4 positive regulation of angiogenesis GO:0045766 9.46 MIR130A MIR199B MIR210 MIR29A
5 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.43 MIR29A MIR495
6 negative regulation of sprouting angiogenesis GO:1903671 9.4 MIR487B MIR495
7 negative regulation of vascular endothelial cell proliferation GO:1905563 9.37 MIR487B MIR495
8 negative regulation of artery morphogenesis GO:1905652 9.26 MIR487B MIR495
9 positive regulation of vascular endothelial cell proliferation GO:1905564 9.13 MIR130A MIR29A MIR495

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.28 MIR130A MIR181D MIR199B MIR210 MIR22 MIR29A

Sources for Muscular Dystrophy, Duchenne Type

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