DMD
MCID: MSC157
MIFTS: 70

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 57 6 38
Duchenne Muscular Dystrophy 57 12 75 53 59 74 37 29 13 6 15
Dmd 57 53 59 74 6
Muscular Dystrophy, Duchenne 12 53 44 72
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:



External Ids:

Disease Ontology 12 DOID:11723
OMIM 57 310200
KEGG 37 H01963
MeSH 44 D020388
NCIt 50 C75482
SNOMED-CT 68 76670001
MESH via Orphanet 45 D020388
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 73 C0013264
Orphanet 59 ORPHA98896
MedGen 42 C0013264
UMLS 72 C0013264

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 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 are MicroRNAs in cancer and Cell Differentiation - Index. 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 : 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)

KEGG : 37
Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. Patients suffer from progressive muscle weakness, are wheelchair-bound before the age of 12 and often die before the third decade of their life.

UniProtKB/Swiss-Prot : 74 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 : 75 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 494)
# Related Disease Score Top Affiliating Genes
1 facioscapulohumeral muscular dystrophy 1 33.0 MIR29A MIR21 MIR155 MIR154 MIR146B DMD
2 polymyositis 31.4 MIR21 MIR155 MIR146B MIR130A MIR127
3 dermatomyositis 31.3 MIR21 MIR155 MIR154 MIR146B MIR130A
4 inclusion body myositis 31.2 MIR21 MIR197 MIR155 MIR146B
5 autism spectrum disorder 30.8 MIR21 MIR193B MIR181D MIR146B
6 muscular dystrophy, limb-girdle, autosomal recessive 1 30.6 MIR21 MIR154 MIR148A MIR134
7 glioblastoma 30.2 MIR486-1 MIR21 MIR197 MIR130A
8 breast cancer 29.4 MIR29C MIR21 MIR193B MIR181D MIR155 MIR148A
9 cardiomyopathy, dilated, 3b 12.6
10 muscular dystrophy, becker type 12.3
11 dystrophinopathies 12.1
12 chromosome xp21 deletion syndrome 12.1
13 glycerol kinase deficiency 12.0
14 adrenal hypoplasia, congenital 11.8
15 dilated cardiomyopathy 11.7
16 atrial standstill 1 11.5
17 muscular disease 11.5
18 limb-girdle muscular dystrophy 11.5
19 malignant hyperthermia 11.5
20 respiratory failure 11.4
21 scoliosis 11.4
22 x-linked recessive disease 11.4
23 myopathy, x-linked, with excessive autophagy 11.4
24 qualitative or quantitative defects of sarcoglycan 11.4
25 arrhythmogenic right ventricular cardiomyopathy 11.3
26 miyoshi muscular dystrophy 11.3
27 myocarditis 11.3
28 myositis 11.2
29 walker-warburg syndrome 11.2
30 autosomal recessive limb-girdle muscular dystrophy 11.2
31 centronuclear myopathy 11.2
32 bethlem myopathy 1 11.2
33 pectus excavatum 11.2
34 glycogen storage disease ii 11.2
35 muscular dystrophy-dystroglycanopathy , type a, 4 11.2
36 myopathy, congenital 11.2
37 aland island eye disease 11.2
38 rigid spine muscular dystrophy 1 11.2
39 reducing body myopathy 11.2
40 congenital fiber-type disproportion 11.2
41 myofibrillar myopathy 11.2
42 hypertrophic pyloric stenosis 11.2
43 pyloric stenosis 11.2
44 creatine phosphokinase, elevated serum 11.1
45 stormorken syndrome 11.1
46 muscular dystrophy-dystroglycanopathy , type a, 1 11.1
47 microcolon 11.1
48 mcleod syndrome 11.1
49 pettigrew syndrome 11.1
50 myoglobinuria, recurrent 11.1

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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
2 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
5 flexion contracture 59 32 hallmark (90%) Very frequent (99-80%) HP:0001371
6 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
7 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
8 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
9 cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001638
10 waddling gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002515
11 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
12 proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003701
13 progressive muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003323
14 calf muscle hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008981
15 elevated serum creatine kinase 32 hallmark (90%) HP:0003236
16 muscular hypotonia 32 HP:0001252
17 hyperlordosis 32 HP:0003307
18 intellectual disability, mild 32 HP:0001256
19 elevated serum creatine phosphokinase 59 Very frequent (99-80%)
20 arrhythmia 32 HP:0011675
21 generalized hypotonia 32 HP:0001290
22 congestive heart failure 32 HP:0001635
23 dilated cardiomyopathy 32 HP:0001644
24 respiratory failure 32 HP:0002878
25 hyporeflexia 32 HP:0001265
26 muscular dystrophy 32 HP:0003560
27 hypoventilation 32 HP:0002791
28 gowers sign 32 HP:0003391
29 calf muscle pseudohypertrophy 32 HP:0003707
30 abnormal ekg 32 HP:0003115

Symptoms via clinical synopsis from OMIM:

57
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 223)
# 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 171596-29-5 110635
4
Acetaminophen Approved Phase 4 103-90-2 1983
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
9
Sodium citrate Approved, Investigational Phase 4 68-04-2
10
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
12 Adrenergic alpha-Antagonists Phase 4
13 Adrenergic alpha-1 Receptor Antagonists Phase 4
14 calcium channel blockers Phase 4
15 Anti-Bacterial Agents Phase 4
16 Antibiotics, Antitubercular Phase 4
17 Analgesics Phase 4
18 Analgesics, Non-Narcotic Phase 4
19 Antipyretics Phase 4
20 Hormones Phase 4
21 Hormone Antagonists Phase 4
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
23 Peripheral Nervous System Agents Phase 4
24 Protective Agents Phase 4
25 Phosphodiesterase Inhibitors Phase 4
26 Phosphodiesterase 5 Inhibitors Phase 4
27 Vasodilator Agents Phase 4
28 glucocorticoids Phase 4
29 Anti-Inflammatory Agents Phase 4
30 Antineoplastic Agents, Hormonal Phase 4
31 Prednisolone acetate Phase 4
32 Methylprednisolone Acetate Phase 4
33 Autonomic Agents Phase 4
34 Sildenafil Citrate Phase 4 171599-83-0
35 Citrate Phase 4
36 Neuroprotective Agents Phase 4
37 Gastrointestinal Agents Phase 4
38 Antiemetics Phase 4
39
Metformin Approved Phase 3 657-24-9 4091 14219
40
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
41
Eplerenone Approved Phase 3 107724-20-9 150310 443872
42
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
43
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
44
Enalaprilat Approved Phase 3 76420-72-9 6917719
45
Idebenone Approved, Investigational Phase 3 58186-27-9
46
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
47
Tamoxifen Approved Phase 3 10540-29-1 2733526
48
Nebivolol Approved, Investigational Phase 3 152520-56-4, 118457-14-0, 99200-09-6 71301
49
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
50
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915

Interventional clinical trials:

(show top 50) (show all 280)
# Name Status NCT ID Phase Drugs
1 Effects of Cardioprotective Therapy, Carvedilol vs Ramipril, in Patients Affected by Duchenne and Becker Muscular Dystrophy. Clinical Significance and Prognostic Value of Cardiac Magnetic Resonance Study. Unknown status NCT00819845 Phase 4 carvedilol;ramipril
2 Carvedilol for the Prevention of Minor Cardiac Damage and Cardiac Function in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
3 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
4 Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
5 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
6 A Comparative Study of Strategies for Management of Duchenne Myopathy in Assiut University Children Hospital Not yet recruiting NCT03633565 Phase 4 Sildenafil (Phosphodiesterase inhibitors);Prednisolone (Steroids)
7 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
8 A Phase III, Randomized, Double Blind, Placebo-controlled Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3 GSK2402968 6mg/kg/week
9 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
10 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
11 A Randomized Study of Daily vs. High-dose Weekly Prednisone Therapy in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
12 A Phase III Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in 10-18 Year Old Patients With Duchenne Muscular Dystrophy Completed NCT01027884 Phase 3 Placebo;Idebenone
13 An Open-Label, Multi-Center, Study With a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy Completed NCT02255552 Phase 3 eteplirsen
14 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
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 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
17 A Multicenter Randomized Placebo-controlled Double-blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
18 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
19 An Open-Label Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
20 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
21 "A Double Blind Randomised Placebo Controlled Efficacy and Safety Study of L-citrulline and Metformin in Ambulant Children Aged Between 7 and 10 Years With Duchenne's Muscular Dystrophy" Completed NCT01995032 Phase 3 750 mg metformin and 7.5 g L-citrulline daily p.o.;Placebo
22 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
23 A 1-year, Multicenter, Open-label Extension to CZOL446H2337 to Evaluate Safety and Efficacy of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Completed NCT01197300 Phase 3 Zoledronic acid
24 A Multicenter, Randomized, Double-blind, Placebo Controlled Efficacy and Safety Trial of Intravenous Zoledronic Acid Twice Yearly Compared to Placebo in Osteoporotic Children Treated With Glucocorticoids. Completed NCT00799266 Phase 3 Zoledronic acid;Placebo
25 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
26 A Randomized, Double Blind, Placebo-Controlled, Study to Assess the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3 RO7239361;Placebo for RO7239361
27 A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
28 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
29 A Phase III Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Who Completed the SIDEROS Study Recruiting NCT03603288 Phase 3 idebenone 150 mg film-coated tablets
30 Bisoprolol for Early Cardiomyopathy in Duchenne Muscular Dystrophy: a Randomized, Controlled Trial Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
31 A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
32 Tamoxifen in Duchenne Muscular Dystrophy: A Multicenter, Randomised, Double-blind, Placebo-controlled, Phase 3 Safety and Efficacy 48-week Trial Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
33 Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
34 A Phase III Double-blind, Randomized, Placebo-Controlled Study Assessing the Efficacy, Safety and Tolerability of Idebenone in Patients With Duchenne Muscular Dystrophy Receiving Glucocorticoid Steroids Recruiting NCT02814019 Phase 3 Idebenone 150 mg film-coated tablets;placebo
35 Open Label, Long-term Safety, Tolerability, and Efficacy Study of GIVINOSTAT in All DMD Patients Who Have Been Previously Treated in One of the GIVINOSTAT Studies Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
36 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
37 A Randomized, Double-Blind, Placebo-Controlled, Multi-center Study to Examine the Effect of Nebivolol, a Beta-Blockade Drug, for the Prevention of Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
38 Long-term, Open-label Extension Study for Patients With Duchenne Muscular Dystrophy Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen Enrolling by invitation NCT03532542 Phase 3 Casimersen;Golodirsen
39 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03917719 Phase 3 Edasalonexent
40 An Open-Label, Safety Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren
41 A Randomized, Double-blind, Placebo-controlled, Efficacy and Safety Study of WVE-210201 in Ambulatory Patients With Duchenne Muscular Dystrophy Not yet recruiting NCT03907072 Phase 2, Phase 3 WVE-210201 (suvodirsen);Placebo
42 A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of a High Dose of Eteplirsen, Preceded by an Open-label Dose Escalation, in Patients With Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping Not yet recruiting NCT03992430 Phase 3 Eteplirsen
43 A Phase 3 Randomized, Double-blind, Placebo-controlled, Multi-center Study to Assess the Efficacy and Safety of Viltolarsen in Ambulant Boys With Duchenne Muscular Dystrophy (DMD) Not yet recruiting NCT04060199 Phase 3 Viltolarsen;Placebo
44 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
45 An Open-label Extension Study of the Long-term Safety, Tolerability and Efficacy of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
46 PITT0503: Clinical Trial of Coenzyme Q10 and Prednisone in Duchenne Muscular Dystrophy Terminated NCT00308113 Phase 3 Prednisone
47 A Phase 2b Extension Study of Ataluren (PTC124) in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
48 An Open-label Extension Study of the Long-term Safety, Tolerability and Efficacy of Drisapersen in US and Canadian Subjects With Duchenne Muscular Dystrophy. Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
49 Evaluation of a Mechanical Insufflation-exsufflation Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders: a Prospective, Randomized, Controlled, Multicenter Study Terminated NCT00839033 Phase 3
50 A Continued Access Protocol for Eligible US Subjects With Duchenne Muscular Dystrophy Who Previously Participated in an Approved Drisapersen Study Withdrawn NCT01890798 Phase 3 Drisapersen

Search NIH Clinical Center for Muscular Dystrophy, Duchenne Type

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Ataluren
Deflazacort
Eteplirsen

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
Skeletal Muscle, Heart, Bone, Testes, Brain, Skin, Smooth Muscle
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 8832)
# Title Authors PMID Year
1
Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy. 9 38 8
16595608 2006
2
Increase in fetal breech presentation in female carriers of Duchenne muscular dystrophy. 9 38 8
9415684 1997
3
The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. 9 38 8
1842672 1991
4
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. 38 8
30166439 2018
5
Cathepsin S Contributes to the Pathogenesis of Muscular Dystrophy in Mice. 38 8
26966179 2016
6
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. 38 8
23299919 2013
7
Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28. 38 8
23223008 2013
8
Hsp72 preserves muscle function and slows progression of severe muscular dystrophy. 38 8
22495301 2012
9
Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy. 38 8
21700587 2011
10
Interleukin-10 reduces the pathology of mdx muscular dystrophy by deactivating M1 macrophages and modulating macrophage phenotype. 38 8
21118895 2011
11
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. 38 8
21178099 2011
12
Short telomeres and stem cell exhaustion model Duchenne muscular dystrophy in mdx/mTR mice. 38 8
21145579 2010
13
Flt-1 haploinsufficiency ameliorates muscular dystrophy phenotype by developmentally increased vasculature in mdx mice. 38 8
20705734 2010
14
The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article. 38 71
20597083 2010
15
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. 38 8
20517938 2010
16
Marked hemiatrophy in carriers of Duchenne muscular dystrophy. 38 8
20385919 2010
17
The artificial gene Jazz, a transcriptional regulator of utrophin, corrects the dystrophic pathology in mdx mice. 38 8
19965907 2010
18
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. 38 71
19945914 2010
19
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. 38 71
19945913 2010
20
Pharmacological activation of PPARbeta/delta stimulates utrophin A expression in skeletal muscle fibers and restores sarcolemmal integrity in mature mdx mice. 38 8
19744959 2009
21
Loss of positive allosteric interactions between neuronal nitric oxide synthase and phosphofructokinase contributes to defects in glycolysis and increased fatigability in muscular dystrophy. 38 8
19542095 2009
22
Matrix metalloproteinase-9 inhibition ameliorates pathogenesis and improves skeletal muscle regeneration in muscular dystrophy. 38 8
19401296 2009
23
Mammalian animal models for Duchenne muscular dystrophy. 38 8
19217290 2009
24
Sub-physiological sarcoglycan expression contributes to compensatory muscle protection in mdx mice. 38 8
19131360 2009
25
Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle. 38 8
19198614 2009
26
Myogenic Akt signaling upregulates the utrophin-glycoprotein complex and promotes sarcolemma stability in muscular dystrophy. 38 8
18986978 2009
27
Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery. 38 8
17981813 2008
28
American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation. 38 71
18079231 2007
29
Gene therapy for duchenne muscular dystrophy: expectations and challenges. 38 8
17846262 2007
30
Red-green color vision impairment in Duchenne muscular dystrophy. 38 8
17503325 2007
31
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. 38 8
17237794 2007
32
A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient. 38 71
17024373 2007
33
Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs. 38 8
17108972 2006
34
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. 38 8
16770791 2006
35
Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy. 38 8
16528518 2006
36
Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. 38 71
16322188 2005
37
Cardiomyopathy in dystrophin-deficient hearts is prevented by expression of a neuronal nitric oxide synthase transgene in the myocardium. 38 8
15917272 2005
38
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide. 38 71
15643612 2005
39
Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. 38 8
15528407 2004
40
Full-length dystrophin expression in half of the heart cells ameliorates beta-isoproterenol-induced cardiomyopathy in mdx mice. 38 8
15190010 2004
41
Stimulation of calcineurin signaling attenuates the dystrophic pathology in mdx mice. 38 8
14681302 2004
42
Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy. 38 8
14600829 2004
43
Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. 38 8
14681829 2004
44
Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins. 38 8
12915458 2003
45
Prolonged dystrophin expression and functional correction of mdx mouse muscle following gene transfer with a helper-dependent (gutted) adenovirus-encoding murine dystrophin. 38 8
12761044 2003
46
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. 38 8
12668614 2003
47
Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. 38 71
12673664 2003
48
cDNA microarray analysis of individual Duchenne muscular dystrophy patients. 38 8
12620965 2003
49
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. 38 8
12415109 2002
50
Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology. 38 8
12354790 2002

Variations for Muscular Dystrophy, Duchenne Type

ClinVar genetic disease variations for Muscular Dystrophy, Duchenne Type:

6 (show top 50) (show all 1217)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DMD NM_004006.2(DMD): c.5652del (p.Arg1884fs) deletion Pathogenic rs1057518692 X:32361338-32361338 X:32343221-32343221
2 DMD deletion Pathogenic X:31838467-31867499 :0-0
3 DMD deletion Pathogenic X:31792077-31854939 :0-0
4 DMD NM_004006.2(DMD): c.2168+1G> A single nucleotide variant Pathogenic rs1057518207 X:32563275-32563275 X:32545158-32545158
5 DMD NC_000023.10: g.(?_31341715)_(31497220_?)del deletion Pathogenic X:31341715-31497220 X:31323598-31479103
6 DMD NC_000023.10: g.(?_31462598)_(31515061_?)del deletion Pathogenic X:31462598-31515061 X:31444481-31496944
7 DMD NC_000023.10: g.(?_31676107)_(31854936_?)del deletion Pathogenic X:31676107-31854936 X:31657990-31836819
8 DMD NC_000023.10: g.(?_31792077)_(31792309_?)del deletion Pathogenic X:31792077-31792309 X:31773960-31774192
9 DMD NC_000023.10: g.(?_31838092)_(31854936_?)del deletion Pathogenic X:31838092-31854936 X:31819975-31836819
10 DMD NC_000023.10: g.(?_32305646)_(32328393_?)dup duplication Pathogenic X:32305646-32328393 X:32287529-32310276
11 DMD NC_000023.10: g.(?_31514905)_(31893490_?)del deletion Pathogenic X:31514905-31893490 X:31496788-31875373
12 DMD NC_000023.10: g.(?_31676107)_(31838200_?)del deletion Pathogenic X:31676107-31838200 X:31657990-31820083
13 DMD NC_000023.10: g.(?_32583819)_(32632570_?)dup duplication Pathogenic X:32583819-32632570 X:32565702-32614453
14 DMD NC_000023.10: g.(?_32591647)_(32717410_?)del deletion Pathogenic X:32591647-32717410 X:32573530-32699293
15 DMD NM_004006.2(DMD): c.9040dup (p.Leu3014fs) duplication Pathogenic rs1556641290 X:31462642-31462642 X:31444525-31444525
16 DMD NM_004006.2(DMD): c.9238_9241del (p.Thr3080fs) deletion Pathogenic rs1060502624 X:31279117-31279120 X:31261000-31261003
17 DMD NM_004006.2(DMD): c.8209C> T (p.Gln2737Ter) single nucleotide variant Pathogenic rs1060502621 X:31645798-31645798 X:31627681-31627681
18 DMD NM_004006.2(DMD): c.5110G> T (p.Glu1704Ter) single nucleotide variant Pathogenic rs765445866 X:32382743-32382743 X:32364626-32364626
19 DMD NM_004006.2(DMD): c.4858G> T (p.Glu1620Ter) single nucleotide variant Pathogenic rs1060502645 X:32383304-32383304 X:32365187-32365187
20 DMD NM_004006.2(DMD): c.6662del (p.Asn2221fs) deletion Pathogenic rs1060502620 X:31950297-31950297 X:31932180-31932180
21 DMD NM_004006.2(DMD): c.4071+1G> A single nucleotide variant Pathogenic rs1060502643 X:32456357-32456357 X:32438240-32438240
22 DMD NM_004006.2(DMD): c.6614+2T> C single nucleotide variant Pathogenic rs1060502641 X:31986454-31986454 X:31968337-31968337
23 DMD NM_004006.2(DMD): c.7241_7243delinsGTTT (p.Asn2414fs) indel Pathogenic rs1064792967 X:31838158-31838160 X:31820041-31820043
24 DMD NM_004006.2(DMD): c.7068_7069del (p.Gln2356fs) deletion Pathogenic rs1060502659 X:31893334-31893335 X:31875217-31875218
25 DMD NM_004006.2(DMD): c.2665C> T (p.Arg889Ter) single nucleotide variant Pathogenic rs1060502639 X:32503174-32503174 X:32485057-32485057
26 DMD NM_004006.2(DMD): c.2202G> A (p.Trp734Ter) single nucleotide variant Pathogenic rs1060502636 X:32536215-32536215 X:32518098-32518098
27 DMD NM_004006.2(DMD): c.2077C> T (p.Gln693Ter) single nucleotide variant Pathogenic rs1060502661 X:32563367-32563367 X:32545250-32545250
28 DMD NM_004006.2(DMD): c.2076dup (p.Gln693fs) duplication Pathogenic rs1060502635 X:32563368-32563368 X:32545251-32545251
29 DMD NM_004006.2(DMD): c.1653G> A (p.Trp551Ter) single nucleotide variant Pathogenic rs1060502629 X:32591913-32591913 X:32573796-32573796
30 DMD NM_004006.2(DMD): c.1061G> A (p.Trp354Ter) single nucleotide variant Pathogenic rs1060502644 X:32663169-32663169 X:32645052-32645052
31 DMD NM_004006.2(DMD): c.238dup (p.Ala80fs) duplication Pathogenic rs1557079469 X:32862926-32862926 X:32844809-32844809
32 DMD NC_000023.10: g.(?_31496223)_(31950344_?)del deletion Pathogenic X:31496223-31950344 X:31478106-31932227
33 DMD NC_000023.10: g.(?_31747748)_(31747865_?)del deletion Pathogenic X:31747748-31747865 X:31729631-31729748
34 DMD NC_000023.10: g.(?_32305646)_(32328393_?)del deletion Pathogenic X:32305646-32328393 X:32287529-32310276
35 DMD NC_000023.10: g.(?_32662249)_(32867937_?)del deletion Pathogenic X:32662249-32867937 X:32644132-32849820
36 DMD NC_000023.10: g.(?_32862900)_(32867937_?)dup duplication Pathogenic X:32862900-32867937 X:32844783-32849820
37 DMD NC_000023.10: g.(?_31747748)_(31838200_?)del deletion Pathogenic X:31747748-31838200 X:31729631-31820083
38 DMD NC_000023.10: g.(?_31986456)_(31986631_?)del deletion Pathogenic X:31986456-31986631 X:31968339-31968514
39 DMD NC_000023.10: g.(?_32456358)_(32509635_?)del deletion Pathogenic X:32456358-32509635 X:32438241-32491518
40 DMD NC_000023.10: g.(?_32481556)_(32509635_?)dup duplication Pathogenic X:32481556-32509635 X:32463439-32491518
41 DMD NC_000023.10: g.(?_32563276)_(32867937_?)del deletion Pathogenic X:32563276-32867937 X:32545159-32849820
42 DMD NC_000023.10: g.(?_32613874)_(32867937_?)del deletion Pathogenic X:32613874-32867937 X:32595757-32849820
43 DMD NC_000023.10: g.(?_32827610)_(33038317_?)dup duplication Pathogenic X:32827610-33038317 X:32809493-33020200
44 DMD NC_000023.10: g.(?_31137345)_(33229673_?)del deletion Pathogenic X:31137345-33229673 X:31119228-33211556
45 DMD NC_000023.10: g.(?_31279072)_(31279133_?)del deletion Pathogenic X:31279072-31279133 X:31260955-31261016
46 DMD NM_004006.2(DMD): c.9621T> A (p.Cys3207Ter) single nucleotide variant Pathogenic rs1057524037 X:31224727-31224727 X:31206610-31206610
47 DMD NM_004006.2(DMD): c.10725del (p.Met3576fs) deletion Pathogenic rs1060502625 X:31165464-31165464 X:31147347-31147347
48 DMD NM_004006.2(DMD): c.10406_10407insAA (p.His3469fs) insertion Pathogenic rs1060502630 X:31187706-31187707 X:31169589-31169590
49 DMD NM_004006.2(DMD): c.8914C> T (p.Gln2972Ter) single nucleotide variant Pathogenic rs1060502633 X:31496246-31496246 X:31478129-31478129
50 DMD NM_004006.2(DMD): c.6118-1G> A single nucleotide variant Pathogenic rs1060502656 X:32305819-32305819 X:32287702-32287702

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

74
# 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

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 11.59 MIR29C MIR29A MIR21 MIR193B MIR181D MIR155
2 10.74 MIR181D MIR146B
3 10.58 MIR29C MIR29A MIR148A

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 MIR486-1 MIR29C MIR29A MIR21 MIR197 MIR181D

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.76 MIR29C MIR29A MIR21 MIR155
2 positive regulation of angiogenesis GO:0045766 9.73 MIR29A MIR21 MIR130A
3 negative regulation of cell migration GO:0030336 9.7 MIR29C MIR29A MIR21
4 negative regulation of angiogenesis GO:0016525 9.69 MIR29C MIR29A MIR21
5 positive regulation of activated T cell proliferation GO:0042104 9.57 MIR21 MIR155
6 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.55 MIR29C MIR155
7 positive regulation of cardiac muscle hypertrophy GO:0010613 9.54 MIR21 MIR155
8 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.54 MIR29C MIR29A MIR21
9 regulation of DNA methylation GO:0044030 9.49 MIR29C MIR29A
10 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.48 MIR155 MIR148A
11 gene silencing by miRNA GO:0035195 9.47 MIR486-1 MIR29C MIR29A MIR21 MIR197 MIR193B
12 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.43 MIR29C MIR29A
13 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.43 MIR29C MIR155 MIR146B
14 miRNA mediated inhibition of translation GO:0035278 9.43 MIR29A MIR21 MIR181D MIR155 MIR148A MIR134
15 negative regulation of regulatory T cell differentiation GO:0045590 9.4 MIR21 MIR155
16 positive regulation of vascular endothelial cell proliferation GO:1905564 9.33 MIR29A MIR21 MIR130A
17 negative regulation of circulating fibrinogen levels GO:0061754 9.32 MIR29C MIR29A

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 9.32 MIR29C MIR29A MIR21 MIR193B MIR181D MIR155

Sources for Muscular Dystrophy, Duchenne Type

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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