MCID: MSC157
MIFTS: 68

Muscular Dystrophy, Duchenne Type

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

Aliases & Classifications for Muscular Dystrophy, Duchenne Type

MalaCards integrated aliases for Muscular Dystrophy, Duchenne Type:

Name: Muscular Dystrophy, Duchenne Type 57 38
Duchenne Muscular Dystrophy 57 38 12 76 53 59 75 37 29 13 6 15
Muscular Dystrophy, Duchenne 12 53 44 73
Dmd 57 53 59 75
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 57 53
Severe Dystrophinopathy, Duchenne Type 59
Dystrophy, Muscular, Duchenne Type 40
Muscular Dystrophy Duchenne 55

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
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 : 53 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 melanoma, 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 are MicroRNAs in cancer and miRNA targets in ECM and membrane receptors. 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 delayed speech and language development and global developmental delay

Disease Ontology : 12 A muscular dystrophy that has material basis in X-linked disease that has material basis in 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 : 57 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 : 75 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 : 76 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 105)
# Related Disease Score Top Affiliating Genes
1 facioscapulohumeral muscular dystrophy 1 32.4 DBET DMD MIR222 MIR29A MIR335 MIR34A
2 melanoma 30.0 MIR222 MIR30B MIR331 MIR34A MIR95
3 muscular dystrophy, duchenne and becker type 12.4
4 dmd-related dilated cardiomyopathy 12.2
5 cardiomyopathy, dilated, 3b 12.2
6 muscular dystrophy, becker type 11.9
7 muscular dystrophy 11.5
8 chromosome xp21 deletion syndrome 11.5
9 glycerol kinase deficiency 11.5
10 adrenal hypoplasia, congenital 11.5
11 dilated cardiomyopathy 11.4
12 myopathy 11.3
13 limb-girdle muscular dystrophy 11.2
14 dystrophinopathies 11.2
15 muscular dystrophy, limb-girdle, type 2c 11.1
16 arrhythmogenic right ventricular cardiomyopathy 11.0
17 distal muscular dystrophy 11.0
18 myocarditis 11.0
19 myositis 10.9
20 walker-warburg syndrome 10.9
21 autosomal recessive limb-girdle muscular dystrophy 10.9
22 centronuclear myopathy 10.9
23 neuromuscular disease 10.9
24 bethlem myopathy 1 10.9
25 glycogen storage disease ii 10.9
26 muscular dystrophy-dystroglycanopathy , type a, 4 10.9
27 myopathy, congenital 10.9
28 aland island eye disease 10.9
29 rigid spine muscular dystrophy 1 10.9
30 reducing body myopathy 10.9
31 congenital fiber-type disproportion 10.9
32 hypertrophic cardiomyopathy 10.9
33 hypertrophic pyloric stenosis 10.9
34 pyloric stenosis 10.9
35 malignant hyperthermia 10.9
36 atrial standstill 1 10.8
37 cardiomyopathy, dilated, 1a 10.8
38 pectus excavatum 10.8
39 stormorken syndrome 10.8
40 microcolon 10.8
41 muscular dystrophy, limb-girdle, type 2b 10.8
42 mcleod syndrome 10.8
43 pettigrew syndrome 10.8
44 myopathy, x-linked, with excessive autophagy 10.8
45 myoglobinuria, recurrent 10.8
46 cardiomyopathy, dilated, 1b 10.8
47 muscular dystrophy, limb-girdle, type 2f 10.8
48 cardiomyopathy, dilated, 1d 10.8
49 muscular dystrophy, congenital, 1b 10.8
50 muscular dystrophy-dystroglycanopathy , type b, 5 10.8

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
increased lordosis

Respiratory Lung:
respiratory failure
pulmonary hypoventilation

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

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

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

Human phenotypes related to Muscular Dystrophy, Duchenne Type:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
4 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
5 flexion contracture 59 32 hallmark (90%) Very frequent (99-80%) HP:0001371
6 cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001638
7 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
8 waddling gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002515
9 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
10 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
11 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
12 progressive muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003323
13 proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003701
14 calf muscle hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008981
15 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
16 muscular hypotonia 32 HP:0001252
17 intellectual disability, mild 32 HP:0001256
18 hyporeflexia 32 HP:0001265
19 generalized hypotonia 32 HP:0001290
20 congestive heart failure 32 HP:0001635
21 dilated cardiomyopathy 32 HP:0001644
22 hypoventilation 32 HP:0002791
23 respiratory failure 32 HP:0002878
24 hyperlordosis 32 HP:0003307
25 gowers sign 32 HP:0003391
26 muscular dystrophy 32 HP:0003560
27 calf muscle pseudohypertrophy 32 HP:0003707
28 arrhythmia 32 HP:0011675

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 198)
# 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,Not Applicable,Early Phase 1 171596-29-5 110635
4 Adrenergic Agents Phase 4,Phase 3,Not Applicable
5 Adrenergic alpha-1 Receptor Antagonists Phase 4
6 Adrenergic alpha-Antagonists Phase 4
7 Adrenergic Antagonists Phase 4
8 Adrenergic beta-Antagonists Phase 4
9 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
11 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
13 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
14
protease inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
15 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
16 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Antibiotics, Antitubercular Phase 4
19
Prednisone Approved, Vet_approved Phase 3,Phase 1,Phase 2 53-03-2 5865
20 Deflazacort Approved, Investigational Phase 3,Phase 1,Phase 2 14484-47-0
21
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
22
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
23
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
24
Enalaprilat Approved Phase 3 76420-72-9 6917719
25
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
26
Lisinopril Approved, Investigational Phase 2, Phase 3,Not Applicable 83915-83-7, 76547-98-3 5362119
27
Zoledronic acid Approved Phase 3 118072-93-8 68740
28
Eplerenone Approved Phase 3,Not Applicable 107724-20-9 150310 443872
29
Spironolactone Approved Phase 3,Not Applicable 1952-01-7, 52-01-7 5833
30
Tamoxifen Approved Phase 3,Phase 1 10540-29-1 2733526
31
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
32 tannic acid Approved, Nutraceutical Phase 3
33
Creatine Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Not Applicable 57-00-1 586
34
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3 303-98-0 5281915
35
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
36 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
37 diuretics Phase 3,Phase 1,Not Applicable
38 Natriuretic Agents Phase 3,Phase 1,Not Applicable
39 glucocorticoids Phase 3,Phase 2,Phase 1
40 Immunosuppressive Agents Phase 3,Phase 1
41 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
42 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Phase 1
43 Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
44 Hormones Phase 3,Phase 2,Phase 1,Not Applicable
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
46 Antioxidants Phase 3,Phase 2,Phase 1
47 Micronutrients Phase 3,Phase 2,Not Applicable
48 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
49 Trace Elements Phase 3,Phase 2,Not Applicable
50 Ubiquinone Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 236)
# 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 Active, not recruiting 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 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
9 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
10 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
11 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
12 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
13 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
14 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
15 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
16 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
17 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
18 Tamoxifen in Duchenne Muscular Dystrophy Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
19 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
20 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
21 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
22 Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
23 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
24 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
25 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
26 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3 Eplerenone;Spironolactone
27 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
28 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
29 Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
30 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
31 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3 Ataluren
32 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3 Ataluren
33 An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy Not yet recruiting NCT03532542 Phase 3 Casimersen;Golodirsen
34 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
35 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
36 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
37 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone
38 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
39 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
40 Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol Withdrawn NCT01890798 Phase 3 Drisapersen
41 Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy Unknown status NCT02285673 Phase 1, Phase 2
42 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
43 Safety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy Unknown status NCT01207908 Phase 1, Phase 2 IGF-1
44 Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy Unknown status NCT01834040 Phase 1, Phase 2
45 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
46 Study Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Muscular Dystrophy. Unknown status NCT01834066 Phase 1, Phase 2
47 A Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT02760264 Phase 2 Vamorolone 0.25 mg/kg/day;Vamorolone 0.75 mg/kg/day;Vamorolone 2.0 mg/kg/day;Vamorolone 6.0 mg/kg/day
48 An Extension Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT02760277 Phase 2 Vamorolone 0.25 mg/day/day;Vamorolone 0.75 mg/day/day;Vamorolone 2.0 mg/day/day;Vamorolone 6.0 mg/day/day
49 L-citrulline and Metformin in Becker's Muscular Dystrophy Completed NCT02018731 Phase 2 Metformin and Metformin & L-Citrulline;L-Citrulline and Metformin & L-Citrulline
50 (-)- Epicatechin Becker Muscular Dystrophy Completed NCT03236662 Phase 2 (-)-Epicatechin

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 29 DMD

Anatomical Context for Muscular Dystrophy, Duchenne Type

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

41
Heart, Skeletal Muscle, Bone, Brain, Testes, Smooth Muscle, Eye
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 1233)
# Title Authors Year
1
Skin cells for use in an alternate diagnostic method for Duchenne muscular dystrophy. ( 29958823 )
2018
2
Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies. ( 29067654 )
2018
3
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
4
Measurement of respiratory function decline in patients with Duchenne muscular dystrophy: a conjoint analysis. ( 29412787 )
2018
5
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. ( 29924848 )
2018
6
Tracking progress: an update on animal models for Duchenne muscular dystrophy. ( 29914884 )
2018
7
Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. ( 29395990 )
2018
8
Evolution of respiratory function in Duchenne muscular dystrophy from childhood to adulthood. ( 29437939 )
2018
9
Peptide-conjugated phosphodiamidate oligomer-mediated exon skipping has benefits for cardiac function in mdx and Cmah-/-mdx mouse models of Duchenne muscular dystrophy. ( 29912990 )
2018
10
A novel human muscle cell model of Duchenne muscular dystrophy created by CRISPR/Cas9 and evaluation of antisense-mediated exon skipping. ( 29339778 )
2018
11
Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. ( 29398641 )
2018
12
Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy. ( 29426391 )
2018
13
Novel Mutation of the Dystrophin Gene in a Child with Duchenne Muscular Dystrophy. ( 29336709 )
2018
14
Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy. ( 29924868 )
2018
15
Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence. ( 29974322 )
2018
16
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. ( 29395989 )
2018
17
Implementation of Duchenne Muscular Dystrophy Care Considerations. ( 29925575 )
2018
18
Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy. ( 29434565 )
2018
19
Efficacy of Denosumab for Glucocorticoid-Induced Osteoporosis in an Adolescent Patient with Duchenne Muscular Dystrophy: A Case Report. ( 29642113 )
2018
20
Proton Nuclear Magnetic Resonance (<sup>1</sup>H NMR) Spectroscopy-Based Analysis of Lipid Components in Serum/Plasma of Patients with Duchenne Muscular Dystrophy (DMD). ( 29067665 )
2018
21
Comment on: 'Implantation of a left ventricular assist device to provide long term support for end-stage Duchenne muscular dystrophy-associated cardiomyopathy' by Stoller et al. ( 29931760 )
2018
22
Role of proteoglycans and glycosaminoglycans in Duchenne muscular dystrophy. ( 29924302 )
2018
23
Current and Emerging Therapies for Duchenne Muscular Dystrophy. ( 29936551 )
2018
24
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy. ( 29203355 )
2018
25
Two Cases of Duchenne Muscular Dystrophy That Showed Different Reactions to Nerve Stimulation During Peripheral Nerve Block: A Case Report. ( 28459722 )
2017
26
Exon skipping: a first in class strategy for Duchenne muscular dystrophy. ( 27936976 )
2017
27
Towards a short questionnaire for stepwise assessment of upper limb function, pain and stiffness in Duchenne muscular dystrophy. ( 28084836 )
2017
28
Repression of phosphatidylinositol transfer protein I+ ameliorates the pathology of Duchenne muscular dystrophy. ( 28533404 )
2017
29
Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy. ( 28505980 )
2017
30
A mouse anti-myostatin antibody increases muscle mass and improves muscle strength and contractility in the mdx mouse model of Duchenne muscular dystrophy and its humanized equivalent, domagrozumab (PF-06252616), increases muscle volume in cynomolgus monkeys. ( 29121992 )
2017
31
Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM. ( 27671699 )
2017
32
Correlation of Serum Creatine Kinase Level With Pulmonary Function in Duchenne Muscular Dystrophy. ( 28503465 )
2017
33
Potential Therapeutic Action of Adiponectin in Duchenne Muscular Dystrophy. ( 28463682 )
2017
34
Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy. ( 28954035 )
2017
35
ER stress disturbs SR/ER-mitochondria Ca<sup>2+</sup>transfer: Implications in Duchenne muscular dystrophy. ( 28625916 )
2017
36
Variations in Duchenne muscular dystrophy course in a multi-ethnic UK population: potential influence of socio-economic factors. ( 28509411 )
2017
37
Surface EMG signals in very late-stage of Duchenne muscular dystrophy: a case study. ( 28851391 )
2017
38
Dual AAV Gene Therapy for Duchenne Muscular Dystrophy with a 7-kb Mini-Dystrophin Gene in the Canine Model. ( 28793798 )
2017
39
Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy. ( 28904987 )
2017
40
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
41
Does Body Mass Index Predict Premature Cardiomyopathy Onset for Duchenne Muscular Dystrophy? ( 28084148 )
2017
42
Pharmacological advances for treatment in Duchenne muscular dystrophy. ( 28486179 )
2017
43
Energy expenditure, body composition, and prevalence of metabolic disorders in patients with Duchenne muscular dystrophy. ( 28869151 )
2017
44
Effectiveness of Coenzyme Q10 on echocardiographic parameters of patients with Duchenne muscular dystrophy. ( 28461862 )
2017
45
The natural history of the patients with Duchenne muscular dystrophy in Taiwan: A medical center experience. ( 28903883 )
2017
46
A Five-Repeat Micro-Dystrophin Gene Ameliorated Dystrophic Phenotype in the Severe DBA/2J-mdx Model of Duchenne Muscular Dystrophy. ( 28932757 )
2017
47
Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome. ( 29157800 )
2017
48
Electrical impedance myography for assessment of Duchenne muscular dystrophy. ( 28076894 )
2017
49
Efficacy of Idebenone to Preserve Respiratory Function above Clinically Meaningful Thresholds for Forced Vital Capacity (FVC) in Patients with Duchenne Muscular Dystrophy. ( 28869486 )
2017
50
Androgen Receptor Agonists Increase Lean Mass, Improve Cardiopulmonary Functions, and Extend Survival in Preclinical Models of Duchenne Muscular Dystrophy. ( 28453658 )
2017

Variations for Muscular Dystrophy, Duchenne Type

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

75
# 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 1841)
# Gene Variation Type Significance SNP ID Assembly Location
1 DMD NM_004006.2(DMD): c.3469G> T (p.Glu1157Ter) single nucleotide variant Pathogenic rs128625226 GRCh37 Chromosome X, 32472913: 32472913
2 DMD NM_004006.2(DMD): c.3469G> T (p.Glu1157Ter) single nucleotide variant Pathogenic rs128625226 GRCh38 Chromosome X, 32454796: 32454796
3 DMD NM_004006.2(DMD): c.2791G> T (p.Glu931Ter) single nucleotide variant Pathogenic rs128625227 GRCh37 Chromosome X, 32503048: 32503048
4 DMD NM_004006.2(DMD): c.2791G> T (p.Glu931Ter) single nucleotide variant Pathogenic rs128625227 GRCh38 Chromosome X, 32484931: 32484931
5 DMD NM_004006.2(DMD): c.5551C> T (p.Gln1851Ter) single nucleotide variant Pathogenic rs128625228 GRCh37 Chromosome X, 32364095: 32364095
6 DMD NM_004006.2(DMD): c.5551C> T (p.Gln1851Ter) single nucleotide variant Pathogenic rs128625228 GRCh38 Chromosome X, 32345978: 32345978
7 DMD NM_004006.2(DMD): c.8944C> T (p.Arg2982Ter) single nucleotide variant Pathogenic rs128625229 GRCh37 Chromosome X, 31462738: 31462738
8 DMD NM_004006.2(DMD): c.8944C> T (p.Arg2982Ter) single nucleotide variant Pathogenic rs128625229 GRCh38 Chromosome X, 31444621: 31444621
9 DMD DMD, IVS68, T-A, +2 single nucleotide variant Pathogenic
10 DMD NM_004006.2(DMD): c.10108C> T (p.Arg3370Ter) single nucleotide variant Pathogenic rs104894787 GRCh37 Chromosome X, 31196901: 31196901
11 DMD NM_004006.2(DMD): c.10108C> T (p.Arg3370Ter) single nucleotide variant Pathogenic rs104894787 GRCh38 Chromosome X, 31178784: 31178784
12 DMD DMD, EX73-76DEL deletion Pathogenic
13 DMD DMD, 1-BP DEL, 10662T deletion Pathogenic
14 DMD DMD, 1-BP INS, EX12 insertion Pathogenic
15 DMD DMD, AG-T, EX48 undetermined variant Pathogenic
16 DMD DMD, EX21DEL deletion Pathogenic
17 DMD DMD, EX18DEL deletion Pathogenic
18 DMD NM_004006.2(DMD): c.6955C> T (p.Gln2319Ter) single nucleotide variant Pathogenic rs128625230 GRCh37 Chromosome X, 31893448: 31893448
19 DMD NM_004006.2(DMD): c.6955C> T (p.Gln2319Ter) single nucleotide variant Pathogenic rs128625230 GRCh38 Chromosome X, 31875331: 31875331
20 DMD NM_004006.2(DMD): c.253C> T (p.Gln85Ter) single nucleotide variant Pathogenic rs128626234 GRCh37 Chromosome X, 32862911: 32862911
21 DMD NM_004006.2(DMD): c.253C> T (p.Gln85Ter) single nucleotide variant Pathogenic rs128626234 GRCh38 Chromosome X, 32844794: 32844794
22 DMD NM_004006.2(DMD): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic rs201366610 GRCh37 Chromosome X, 32519950: 32519950
23 DMD NM_004006.2(DMD): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic rs201366610 GRCh38 Chromosome X, 32501833: 32501833
24 DMD DMD, 1-BP DEL, 2568C deletion Pathogenic
25 DMD NM_004006.2(DMD): c.2314G> T (p.Glu772Ter) single nucleotide variant Pathogenic rs267606770 GRCh37 Chromosome X, 32519938: 32519938
26 DMD NM_004006.2(DMD): c.2314G> T (p.Glu772Ter) single nucleotide variant Pathogenic rs267606770 GRCh38 Chromosome X, 32501821: 32501821
27 DMD NM_004006.2(DMD): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs128626235 GRCh37 Chromosome X, 32834682: 32834682
28 DMD NM_004006.2(DMD): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs128626235 GRCh38 Chromosome X, 32816565: 32816565
29 DMD NM_004006.2(DMD): c.161T> G (p.Leu54Arg) single nucleotide variant Pathogenic rs128626231 GRCh37 Chromosome X, 32867870: 32867870
30 DMD NM_004006.2(DMD): c.161T> G (p.Leu54Arg) single nucleotide variant Pathogenic rs128626231 GRCh38 Chromosome X, 32849753: 32849753
31 DMD DMD, IVS26, T-G, +2 single nucleotide variant Pathogenic
32 DMD DMD, 1-BP DEL, 724C deletion Pathogenic
33 DMD NM_004006.2(DMD): c.2017C> T (p.Gln673Ter) single nucleotide variant Pathogenic rs128626232 GRCh37 Chromosome X, 32563427: 32563427
34 DMD NM_004006.2(DMD): c.2017C> T (p.Gln673Ter) single nucleotide variant Pathogenic rs128626232 GRCh38 Chromosome X, 32545310: 32545310
35 DMD DMD, 1-BP DEL, 10334C AND IVS69, G-T, +1 deletion Pathogenic
36 DMD NM_004006.2(DMD): c.178C> T (p.Gln60Ter) single nucleotide variant Pathogenic rs128626233 GRCh37 Chromosome X, 32867853: 32867853
37 DMD NM_004006.2(DMD): c.178C> T (p.Gln60Ter) single nucleotide variant Pathogenic rs128626233 GRCh38 Chromosome X, 32849736: 32849736
38 DMD DMD, 1-BP INS, 402A insertion Pathogenic
39 DMD NM_000109.3(DMD): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs128626238 GRCh37 Chromosome X, 32717336: 32717336
40 DMD NM_000109.3(DMD): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs128626238 GRCh38 Chromosome X, 32699219: 32699219
41 DMD NM_004006.2(DMD): c.748G> T (p.Glu250Ter) single nucleotide variant Pathogenic rs128626239 GRCh37 Chromosome X, 32717312: 32717312
42 DMD NM_004006.2(DMD): c.748G> T (p.Glu250Ter) single nucleotide variant Pathogenic rs128626239 GRCh38 Chromosome X, 32699195: 32699195
43 DMD DMD, 11-BP DEL, NT989 deletion Pathogenic
44 DMD DMD, 1-BP INS, NT1554 insertion Pathogenic
45 DMD NM_004006.2(DMD): c.1489C> T (p.Gln497Ter) single nucleotide variant Pathogenic rs128626241 GRCh37 Chromosome X, 32613987: 32613987
46 DMD NM_004006.2(DMD): c.1489C> T (p.Gln497Ter) single nucleotide variant Pathogenic rs128626241 GRCh38 Chromosome X, 32595870: 32595870
47 DMD NM_004006.2(DMD): c.1952G> A (p.Trp651Ter) single nucleotide variant Pathogenic rs128626242 GRCh37 Chromosome X, 32583859: 32583859
48 DMD NM_004006.2(DMD): c.1952G> A (p.Trp651Ter) single nucleotide variant Pathogenic rs128626242 GRCh38 Chromosome X, 32565742: 32565742
49 DMD NM_004006.2(DMD): c.2308A> T (p.Lys770Ter) single nucleotide variant Pathogenic rs128626243 GRCh37 Chromosome X, 32519944: 32519944
50 DMD NM_004006.2(DMD): c.2308A> T (p.Lys770Ter) single nucleotide variant Pathogenic rs128626243 GRCh38 Chromosome X, 32501827: 32501827

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 11.7 MIR222 MIR29A MIR29C MIR30B MIR30D MIR331
2 10.79 MIR30B MIR30D
3 10.4 MIR29A MIR29C

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 9.4 LY86 MIR222 MIR29A MIR29C MIR30B MIR30D

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell migration GO:0030336 9.63 MIR29A MIR29C MIR34A
2 negative regulation of protein kinase B signaling GO:0051898 9.54 MIR29A MIR29C MIR34A
3 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.49 MIR29C MIR361
4 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.48 MIR222 MIR29A
5 regulation of DNA methylation GO:0044030 9.43 MIR29A MIR29C
6 negative regulation of vascular endothelial cell proliferation GO:1905563 9.43 MIR29C MIR30B MIR34A
7 gene silencing by miRNA GO:0035195 9.43 MIR222 MIR29A MIR29C MIR30B MIR34A MIR361
8 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.4 MIR29A MIR29C
9 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.33 MIR222 MIR29C MIR361
10 negative regulation of circulating fibrinogen levels GO:0061754 9.32 MIR29A MIR29C
11 negative regulation of angiogenesis GO:0016525 9.1 MIR222 MIR29A MIR29C MIR30B MIR34A MIR361

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 9.1 MIR222 MIR29A MIR29C MIR30B MIR34A MIR361

Sources for Muscular Dystrophy, Duchenne Type

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