MCID: DCH001
MIFTS: 79

Duchenne Muscular Dystrophy

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

Aliases & Classifications for Duchenne Muscular Dystrophy

MalaCards integrated aliases for Duchenne Muscular Dystrophy:

Name: Duchenne Muscular Dystrophy 54 38 12 50 24 56 71 29 13 14
Muscular Dystrophy, Duchenne 12 50 42 69
Dmd 50 24 56 71
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 50
Muscular Dystrophy, Classic X-Linked Recessive 24
Progressive Muscular Dystrophy of Childhood 24
Severe Dystrophinopathy, Duchenne Type 56
Pseudohypertrophic Muscular Dystrophy 24
Childhood Muscular Dystrophy 24
Muscular Dystrophy Duchenne 52

Characteristics:

Orphanet epidemiological data:

56
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:

54
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
duchenne muscular dystrophy:
Onset and clinical course childhood onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Duchenne Muscular Dystrophy

OMIM : 54
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)

MalaCards based summary : Duchenne Muscular Dystrophy, also known as muscular dystrophy, duchenne, is related to dmd-related dilated cardiomyopathy and dmd-associated dilated cardiomyopathy, and has symptoms including scoliosis, hyporeflexia and muscular dystrophy. An important gene associated with Duchenne Muscular Dystrophy is DMD (Dystrophin), and among its related pathways/superpathways are Urea cycle and metabolism of amino groups and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. 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 behavior/neurological and cardiovascular system

NIH Rare Diseases : 50 duchenne muscular dystrophy (dmd) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. it is caused by a mutation in a gene, called the dmd gene, which encodes the muscle protein dystrophin. boys with duchenne muscular dystrophy do not make the dystrophin protein in their muscles. duchenne mucular dystrophy is inherited in an x-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. individuals who have dmd have progressive loss of muscle function and weakness, which begins in the lower limbs. in addition to the skeletal muscles used for movement, dmd may also affect the muscles of the heart.  there is no known cure for duchenne muscular dystrophy. treatment is aimed at control of symptoms to maximize the quality of life. last updated: 4/25/2015

UniProtKB/Swiss-Prot : 71 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.

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.

Wikipedia : 72 Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy. The symptom of muscle weakness... more...

Related Diseases for Duchenne Muscular Dystrophy

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

(show top 50) (show all 146)
id Related Disease Score Top Affiliating Genes
1 dmd-related dilated cardiomyopathy 12.3
2 dmd-associated dilated cardiomyopathy 12.2
3 muscular dystrophy, duchenne and becker type 12.1
4 becker muscular dystrophy 11.6
5 glycerol kinase deficiency 11.5
6 muscular dystrophy 11.3
7 muscular dystrophy, limb-girdle, type 2c 11.0
8 adrenal hypoplasia, congenital 11.0
9 chromosome xp21 deletion syndrome 11.0
10 d-minus hemolytic uremic syndrome 10.9 DMD UTRN
11 autosomal recessive nonsyndromic deafness 3 10.8 DAG1 DMD
12 mental retardation, x-linked 9/44 10.7 DMD GK OTC
13 muscular dystrophy, congenital, 1b 10.7 DAG1 DMD
14 multiple endocrine neoplasia 10.7 CAV3 DMD
15 visual snow syndrome 10.6 MB PIK3C2A
16 properdin deficiency 10.6 DMD MB NOS1
17 endometrial type cervical adenomyoma 10.6 MB PIK3C2A
18 pulmonary hypertension, primary, 2 10.6 DAG1 DMD
19 glomerulonephritis 10.6 DMD MB PIK3C2A
20 velocardiofacial syndrome 10.6 MB PIK3C2A
21 craniofrontonasal dysplasia 10.5 DMD GK NOS1 UTRN
22 lung superior sulcus carcinoma 10.5 DAG1 DMD MB
23 parkinsonism with spasticity, x-linked 10.5 DMD GK OTC PIK3C2A
24 cerebellar ataxia and hypogonadotropic hypogonadism 10.5 DAG1 DMD
25 cardiomyopathy 10.5
26 myelodysplastic myeloproliferative cancer 10.5 CAV3 MIR206 PIK3C2A
27 glycogen storage disease 0, muscle 10.5 CAV3 DAG1 DMD
28 lyme disease 10.5 CAV3 DMD PIK3C2A
29 paraurethral gland cancer 10.5 AQP4 MB
30 inferior myocardial infarction 10.4 MB PIK3C2A
31 adult intracranial malignant hemangiopericytoma 10.4 DMD MB MSTN PIK3C2A
32 hereditary choroidal atrophy 10.4 MB PIK3C2A
33 scn1b-related generalized epilepsy with febrile seizures plus 10.4 AQP4 DAG1 DMD UTRN
34 neuromuscular disease 10.3
35 scoliosis 10.3
36 myopathy, distal, tateyama type 10.3 CAV3 DMD MB PIK3C2A
37 epb42-related hereditary spherocytosis 10.3 DMD UTRN
38 adult respiratory distress syndrome 10.3 CKM MB PIK3C2A
39 creatine phosphokinase, elevated serum 10.2 CAV3 MSTN
40 muscular atrophy 10.2
41 spinal muscular atrophy 10.2
42 dilated cardiomyopathy 10.2
43 dysphagia 10.1
44 ischemia 10.1
45 cerebritis 10.1
46 myopathy 10.1
47 myotonic dystrophy 10.1
48 epilepsy 10.1
49 neuronitis 10.1
50 retinitis 10.1

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



Diseases related to Duchenne Muscular Dystrophy

Symptoms & Phenotypes for Duchenne Muscular Dystrophy

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
increased lordosis

Respiratory- Lung:
respiratory failure
pulmonary hypoventilation

Cardiovascular- Heart:
cardiomyopathy, dilated
congestive heart failure

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

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

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

Skeletal- Limbs:
flexion contractures

Muscle Soft Tissue:
weakness
calf muscle pseudohypertrophy

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


Clinical features from OMIM:

310200

Human phenotypes related to Duchenne Muscular Dystrophy:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 hyporeflexia 32 HP:0001265
3 muscular dystrophy 32 HP:0003560
4 gowers sign 32 HP:0003391
5 dilated cardiomyopathy 32 HP:0001644
6 respiratory failure 32 HP:0002878
7 intellectual disability, mild 32 HP:0001256
8 waddling gait 32 HP:0002515
9 arrhythmia 32 HP:0011675
10 congestive heart failure 32 HP:0001635
11 hyperlordosis 32 HP:0003307
12 muscular hypotonia 32 HP:0001252
13 hypoventilation 32 HP:0002791
14 calf muscle pseudohypertrophy 32 HP:0003707
15 flexion contracture 32 HP:0001371
16 elevated serum creatine phosphokinase 32 HP:0003236

UMLS symptoms related to Duchenne Muscular Dystrophy:


waddling gait, weakness

MGI Mouse Phenotypes related to Duchenne Muscular Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 DAG1 DMD DTNA LTBP4 MSTN NOS1
2 cardiovascular system MP:0005385 10.1 AQP4 CAV3 CKM DAG1 DMD DTNA
3 growth/size/body region MP:0005378 10.03 AQP4 CKM DAG1 DMD DTNA LTBP4
4 homeostasis/metabolism MP:0005376 9.93 AQP4 CAV3 CKM DAG1 DMD LTBP4
5 muscle MP:0005369 9.65 MB MSTN NOS1 UTRN CAV3 CKM
6 renal/urinary system MP:0005367 9.17 AQP4 DMD MSTN NOS1 OTC PIK3C2A

Drugs & Therapeutics for Duchenne Muscular Dystrophy

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

(show top 50) (show all 200)
id 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 171596-29-5 110635
4 Adrenergic Agents Phase 4,Phase 3
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
10 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
11 Vasodilator Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
12 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
13 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
14
protease inhibitors Phase 4,Phase 3,Phase 2
15 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
17 Anti-Bacterial Agents Phase 4,Phase 1
18 Antibiotics, Antitubercular Phase 4
19
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
20
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
21
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
22
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
23
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
24
Enalaprilat Approved Phase 3 76420-72-9 6917719
25 Deflazacort Approved Phase 3,Phase 1 14484-47-0
26
Eplerenone Approved Phase 3 107724-20-9 150310 443872
27
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
28
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
29
Zoledronic acid Approved Phase 3 118072-93-8 68740
30
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
31 tannic acid Approved, Nutraceutical Phase 3
32
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
33 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
34 Bone Density Conservation Agents Phase 3,Phase 1
35 diuretics Phase 3,Phase 1
36 Natriuretic Agents Phase 3,Phase 1
37 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Phase 1
38 glucocorticoids Phase 3,Phase 2,Phase 1
39 Hormone Antagonists Phase 3,Phase 2,Phase 1
40 Hormones Phase 3,Phase 2,Phase 1
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
42 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
43 Antioxidants Phase 3,Phase 2,Phase 1
44 Micronutrients Phase 3,Phase 2
45 Protective Agents Phase 3,Phase 2,Phase 1
46 Trace Elements Phase 3,Phase 2
47 Ubiquinone Phase 3,Phase 2
48 Pharmaceutical Solutions Phase 2, Phase 3, Phase 1
49 Immunosuppressive Agents Phase 3,Phase 1
50 Diuretics, Potassium Sparing Phase 3

Interventional clinical trials:

(show top 50) (show all 210)

id 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 PDE5 Inhibition to Alleviate Functional Muscle Ischemia in Becker Muscular Dystrophy Completed NCT02207283 Phase 4 Tadalafil;Placebo
5 Stacking Exercises Aid the Decline in FVC and Sick Time Active, not recruiting NCT01999075 Phase 4
6 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
7 High-dose Prednisone in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
8 L-citrulline and Metformin in Duchenne's Muscular Dystrophy Completed NCT01995032 Phase 3 750 mg metformin and 7.5 g L-citrulline daily p.o.;Placebo
9 Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Completed NCT00592553 Phase 2, Phase 3 PTC124 High Dose;PTC124 Low Dose;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 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
13 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
14 A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD) Completed NCT00018109 Phase 3 glutamine;creatine monohydrate
15 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
16 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;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 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
19 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
20 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
21 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
22 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
23 A Research Study of Zoledronic Acid in Children and Adolescents With Osteoporosis Recruiting NCT00799266 Phase 3 Zoledronic acid;Placebo
24 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
25 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3 Eplerenone;Spironolactone
26 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
27 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
28 Confirmatory Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
29 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
30 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3 Ataluren
31 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3 Ataluren
32 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
33 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
34 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
35 Extension Study of Drisapersen in DMD Subjects Terminated NCT02636686 Phase 3 Drisapersen
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 Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy Completed NCT00264888 Phase 2 PTC124
48 Safety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular Dystrophy Completed NCT00159250 Phase 1, Phase 2 AVI-4658 (PMO)
49 Efficacy and Tolerability of Idebenone in Boys With Cardiac Dysfunction Associated With Duchenne Muscular Dystrophy Completed NCT00654784 Phase 2 idebenone;placebo
50 Efficacy Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy Patients Completed NCT01396239 Phase 2 AVI-4658 (Eteplirsen)

Search NIH Clinical Center for Duchenne Muscular Dystrophy

Cell-based therapeutics:


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

Cochrane evidence based reviews: muscular dystrophy, duchenne

Genetic Tests for Duchenne Muscular Dystrophy

Genetic tests related to Duchenne Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Duchenne Muscular Dystrophy 29 24

Anatomical Context for Duchenne Muscular Dystrophy

MalaCards organs/tissues related to Duchenne Muscular Dystrophy:

39
Skeletal Muscle, Heart, Bone, Smooth Muscle, Testes, Eye, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Duchenne Muscular Dystrophy:
id 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 Duchenne Muscular Dystrophy

Articles related to Duchenne Muscular Dystrophy:

(show top 50) (show all 947)
id Title Authors Year
1
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
2
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. ( 28079318 )
2017
3
The Direct Cost of Managing a Rare Disease: Assessing Medical and Pharmacy Costs Associated with Duchenne Muscular Dystrophy in the United States. ( 28530521 )
2017
4
Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy. ( 28954035 )
2017
5
A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy. ( 28288529 )
2017
6
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
7
Improvements in motor tasks through the use of smartphone technology for individuals with Duchenne muscular dystrophy. ( 28860778 )
2017
8
Variations in Duchenne muscular dystrophy course in a multi-ethnic UK population: potential influence of socio-economic factors. ( 28509411 )
2017
9
Mechanical insufflation-exsufflation for an individual with Duchenne muscular dystrophy and a lower respiratory infection. ( 27999675 )
2017
10
Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy. ( 28505980 )
2017
11
Interleukin 1 Receptor-Like 1 Protein (ST2) is a Potential Biomarker for Cardiomyopathy in Duchenne Muscular Dystrophy. ( 28821969 )
2017
12
Efficacy of Idebenone to Preserve Respiratory Function above Clinically Meaningful Thresholds for Forced Vital Capacity (FVC) in Patients with Duchenne Muscular Dystrophy. ( 28869486 )
2017
13
Genomic integration of the full-length dystrophin coding sequence in Duchenne muscular dystrophy induced pluripotent stem cells. ( 28139886 )
2017
14
The natural history of the patients with Duchenne muscular dystrophy in Taiwan: A medical center experience. ( 28903883 )
2017
15
Autophagic dysfunction and autophagosome escape in the mdx mus musculus model of Duchenne muscular dystrophy. ( 28834378 )
2017
16
Growing patients with Duchenne muscular dystrophy: longitudinal changes in their dentofacial morphology and orofacial functional capacities. ( 28520860 )
2017
17
Correlation of Serum Creatine Kinase Level With Pulmonary Function in Duchenne Muscular Dystrophy. ( 28503465 )
2017
18
Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy. ( 28904987 )
2017
19
Deflazacort (Emflaza) for Duchenne muscular dystrophy. ( 28880848 )
2017
20
The golden retriever model of Duchenne muscular dystrophy. ( 28526070 )
2017
21
Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy. ( 28865998 )
2017
22
Relationship Between Fragmented QRS Complexes and Cardiac Status in Duchenne Muscular Dystrophy: Multimodal Validation Using Echocardiography, Magnetic Resonance Imaging, and Holter Monitoring. ( 28456833 )
2017
23
Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy. ( 28899790 )
2017
24
Androgen Receptor Agonists Increase Lean Mass, Improve Cardiopulmonary Functions, and Extend Survival in Preclinical Models of Duchenne Muscular Dystrophy. ( 28453658 )
2017
25
Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway. ( 28472288 )
2017
26
Towards a short questionnaire for stepwise assessment of upper limb function, pain and stiffness in Duchenne muscular dystrophy. ( 28084836 )
2017
27
Exon skipping: a first in class strategy for Duchenne muscular dystrophy. ( 27936976 )
2017
28
Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup. ( 28734761 )
2017
29
One Dimensional Input Device of Electric Wheelchair for Persons with Severe Duchenne Muscular Dystrophy. ( 28873883 )
2017
30
Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status. ( 28491099 )
2017
31
Newborn screening for Duchenne muscular dystrophy in China: Follow-up diagnosis and subsequent treatment. ( 28466241 )
2017
32
Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy. ( 27979502 )
2017
33
Does Body Mass Index Predict Premature Cardiomyopathy Onset for Duchenne Muscular Dystrophy? ( 28084148 )
2017
34
Surface EMG signals in very late-stage of Duchenne muscular dystrophy: a case study. ( 28851391 )
2017
35
Efficacy and Safety Profile of Tricyclo-DNA Antisense Oligonucleotides in Duchenne Muscular Dystrophy Mouse Model. ( 28918017 )
2017
36
Evaluation of the behavioral characteristics of the mdx mouse model of duchenne muscular dystrophy through operant conditioning procedures. ( 28532665 )
2017
37
Pharmacological advances for treatment in Duchenne muscular dystrophy. ( 28486179 )
2017
38
Mutation-Based Therapy for Duchenne Muscular Dystrophy: Antisense Treatment Arrives in the Clinic. ( 28893959 )
2017
39
Skeletal muscle secretome in Duchenne muscular dystrophy: a pivotal anti-inflammatory role of adiponectin. ( 28188344 )
2017
40
Energy expenditure, body composition, and prevalence of metabolic disorders in patients with Duchenne muscular dystrophy. ( 28869151 )
2017
41
Increased plasma lipid levels exacerbate muscle pathology in the mdx mouse model of Duchenne muscular dystrophy. ( 28899419 )
2017
42
Effectiveness of Coenzyme Q10 on echocardiographic parameters of patients with Duchenne muscular dystrophy. ( 28461862 )
2017
43
Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged a8o3 Years: A Retrospective Study. ( 28533764 )
2017
44
First Drug Approved for Duchenne Muscular Dystrophy. ( 28030401 )
2017
45
A Novel NF-I_B Inhibitor, Edasalonexent (CAT-1004), in Development as a Disease-Modifying Treatment for Patients With Duchenne Muscular Dystrophy: Phase 1 Safety, Pharmacokinetics, and Pharmacodynamics in Adult Subjects. ( 28074489 )
2017
46
Repression of phosphatidylinositol transfer protein I+ ameliorates the pathology of Duchenne muscular dystrophy. ( 28533404 )
2017
47
Two Cases of Duchenne Muscular Dystrophy That Showed Different Reactions to Nerve Stimulation During Peripheral Nerve Block: A Case Report. ( 28459722 )
2017
48
Pharmacological Inhibition of PKCI, Counteracts Muscle Disease in a Mouse Model of Duchenne Muscular Dystrophy. ( 28089792 )
2017
49
Pre-clinical evaluation of N-acetylcysteine reveals side effects in the mdx mouse model of Duchenne muscular dystrophy. ( 28887840 )
2017
50
Potential Therapeutic Action of Adiponectin in Duchenne Muscular Dystrophy. ( 28463682 )
2017

Variations for Duchenne Muscular Dystrophy

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

71
id 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 Duchenne Muscular Dystrophy:

6 (show top 50) (show all 390)
id 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.2791G> T (p.Glu931Ter) single nucleotide variant Pathogenic rs128625227 GRCh37 Chromosome X, 32503048: 32503048
3 DMD NM_004006.2(DMD): c.5551C> T (p.Gln1851Ter) single nucleotide variant Pathogenic rs128625228 GRCh37 Chromosome X, 32364095: 32364095
4 DMD NM_004006.2(DMD): c.8944C> T (p.Arg2982Ter) single nucleotide variant Pathogenic rs128625229 GRCh37 Chromosome X, 31462738: 31462738
5 DMD DMD, IVS68, T-A, +2 single nucleotide variant Pathogenic
6 DMD NM_004006.2(DMD): c.10108C> T (p.Arg3370Ter) single nucleotide variant Pathogenic rs104894787 GRCh37 Chromosome X, 31196901: 31196901
7 DMD DMD, EX73-76DEL deletion Pathogenic
8 DMD DMD, 1-BP DEL, 10662T deletion Pathogenic
9 DMD DMD, 1-BP INS, EX12 insertion Pathogenic
10 DMD DMD, AG-T, EX48 undetermined variant Pathogenic
11 DMD DMD, EX21DEL deletion Pathogenic
12 DMD DMD, EX18DEL deletion Pathogenic
13 DMD NM_004006.2(DMD): c.6955C> T (p.Gln2319Ter) single nucleotide variant Pathogenic rs128625230 GRCh37 Chromosome X, 31893448: 31893448
14 DMD NM_004006.2(DMD): c.253C> T (p.Gln85Ter) single nucleotide variant Pathogenic rs128626234 GRCh37 Chromosome X, 32862911: 32862911
15 DMD NM_004006.2(DMD): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic rs201366610 GRCh37 Chromosome X, 32519950: 32519950
16 DMD DMD, 1-BP DEL, 2568C deletion Pathogenic
17 DMD NM_004006.2(DMD): c.2314G> T (p.Glu772Ter) single nucleotide variant Pathogenic rs267606770 GRCh37 Chromosome X, 32519938: 32519938
18 DMD NM_004006.2(DMD): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs128626235 GRCh37 Chromosome X, 32834682: 32834682
19 DMD NM_004006.2(DMD): c.161T> G (p.Leu54Arg) single nucleotide variant Pathogenic rs128626231 GRCh37 Chromosome X, 32867870: 32867870
20 DMD DMD, IVS26, T-G, +2 single nucleotide variant Pathogenic
21 DMD DMD, 1-BP DEL, 724C deletion Pathogenic
22 DMD NM_004006.2(DMD): c.2017C> T (p.Gln673Ter) single nucleotide variant Pathogenic rs128626232 GRCh37 Chromosome X, 32563427: 32563427
23 DMD DMD, 1-BP DEL, 10334C AND IVS69, G-T, +1 deletion Pathogenic
24 DMD NM_004006.2(DMD): c.178C> T (p.Gln60Ter) single nucleotide variant Pathogenic rs128626233 GRCh37 Chromosome X, 32867853: 32867853
25 DMD DMD, 1-BP INS, 402A insertion Pathogenic
26 DMD NM_000109.3(DMD): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs128626238 GRCh37 Chromosome X, 32717336: 32717336
27 DMD NM_004006.2(DMD): c.748G> T (p.Glu250Ter) single nucleotide variant Pathogenic rs128626239 GRCh37 Chromosome X, 32717312: 32717312
28 DMD DMD, 11-BP DEL, NT989 deletion Pathogenic
29 DMD DMD, 1-BP INS, NT1554 insertion Pathogenic
30 DMD NM_004006.2(DMD): c.1489C> T (p.Gln497Ter) single nucleotide variant Pathogenic rs128626241 GRCh37 Chromosome X, 32613987: 32613987
31 DMD NM_004006.2(DMD): c.1952G> A (p.Trp651Ter) single nucleotide variant Pathogenic rs128626242 GRCh37 Chromosome X, 32583859: 32583859
32 DMD NM_004006.2(DMD): c.2308A> T (p.Lys770Ter) single nucleotide variant Pathogenic rs128626243 GRCh37 Chromosome X, 32519944: 32519944
33 DMD NM_004006.2(DMD): c.2317A> G (p.Lys773Glu) single nucleotide variant Pathogenic rs128626244 GRCh37 Chromosome X, 32519935: 32519935
34 DMD DMD, 52-BP DEL deletion Pathogenic
35 DMD DMD, 1-BP INS, NT2928 insertion Pathogenic
36 DMD NM_004006.2(DMD): c.3121C> T (p.Gln1041Ter) single nucleotide variant Pathogenic rs128626245 GRCh37 Chromosome X, 32486656: 32486656
37 DMD NM_004006.2(DMD): c.3188G> A (p.Trp1063Ter) single nucleotide variant Pathogenic rs128626246 GRCh37 Chromosome X, 32482791: 32482791
38 DMD NM_004006.2(DMD): c.4213C> T (p.Gln1405Ter) single nucleotide variant Pathogenic rs128626247 GRCh37 Chromosome X, 32429889: 32429889
39 DMD NM_004006.2(DMD): c.4414C> T (p.Gln1472Ter) single nucleotide variant Pathogenic rs128626248 GRCh37 Chromosome X, 32407722: 32407722
40 DMD NM_004006.2(DMD): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic rs128626249 GRCh37 Chromosome X, 32360240: 32360240
41 DMD DMD, 1-BP DEL, 6408C deletion Pathogenic
42 DMD NM_004006.2(DMD): c.6292C> T (p.Arg2098Ter) single nucleotide variant Pathogenic rs128626250 GRCh37 Chromosome X, 32235179: 32235179
43 DMD NM_004006.2(DMD): c.6373C> T (p.Gln2125Ter) single nucleotide variant Pathogenic rs128626251 GRCh37 Chromosome X, 32235098: 32235098
44 DMD DMD, 17-BP DEL, NT6982 deletion Pathogenic
45 DMD NM_004006.2(DMD): c.6790C> T (p.Gln2264Ter) single nucleotide variant Pathogenic rs128626252 GRCh37 Chromosome X, 31947835: 31947835
46 DMD DMD, 1-BP INS, 7188A insertion Pathogenic
47 DMD DMD, IVS47, G-A, +1, EX48DEL deletion Pathogenic
48 DMD NM_004006.2(DMD): c.7402G> T (p.Glu2468Ter) single nucleotide variant Pathogenic rs128626253 GRCh37 Chromosome X, 31792217: 31792217
49 DMD NM_004006.2(DMD): c.9197C> A (p.Ser3066Ter) single nucleotide variant Pathogenic rs128626254 GRCh37 Chromosome X, 31341742: 31341742
50 DMD DMD, 4-BP DEL, NT9679 deletion Pathogenic

Expression for Duchenne Muscular Dystrophy

LifeMap Discovery
Genes differentially expressed in tissues of Duchenne Muscular Dystrophy patients vs. healthy controls: 35
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MYH3 myosin, heavy chain 3, skeletal muscle, embryonic Skeletal Muscle + 5.62 0.000
2 COL1A2 collagen, type I, alpha 2 Skeletal Muscle + 4.06 0.000
3 COL1A1 collagen, type I, alpha 1 Skeletal Muscle + 4.06 0.000
4 COL3A1 collagen, type III, alpha 1 Skeletal Muscle + 3.84 0.000
5 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal Skeletal Muscle + 3.74 0.000
6 DCLK1 doublecortin-like kinase 1 Skeletal Muscle + 3.56 0.000
7 ASPN asporin Skeletal Muscle + 3.18 0.000
8 SPP1 secreted phosphoprotein 1 Skeletal Muscle + 3.17 0.000
9 NNMT nicotinamide N-methyltransferase Skeletal Muscle + 3.03 0.000
10 LYZ lysozyme Skeletal Muscle + 3.02 0.000
Search GEO for disease gene expression data for Duchenne Muscular Dystrophy.

Pathways for Duchenne Muscular Dystrophy

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.54 CKM OTC
2 10.3 DAG1 DMD DTNA NOS1 SNTB1
3 9.86 MB NOS1

GO Terms for Duchenne Muscular Dystrophy

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.88 DAG1 DMD DTNA SNTB1 SNTB2 UTRN
2 protein complex GO:0043234 9.8 CAV3 DMD DTNA NOS1 SNTB1 SNTB2
3 membrane raft GO:0045121 9.76 CAV3 DAG1 DMD NOS1
4 synapse GO:0045202 9.7 DAG1 DMD DTNA NOS1 SNTB1 SNTB2
5 Z disc GO:0030018 9.69 CAV3 DMD NOS1
6 filopodium GO:0030175 9.61 DAG1 DMD UTRN
7 sarcolemma GO:0042383 9.5 CAV3 DAG1 DMD DTNA NOS1 SNTB1
8 costamere GO:0043034 9.49 DAG1 DMD
9 filopodium membrane GO:0031527 9.48 DMD UTRN
10 contractile ring GO:0070938 9.37 DAG1 UTRN
11 dystrophin-associated glycoprotein complex GO:0016010 9.1 CAV3 DAG1 DMD SNTB1 SNTB2 UTRN
12 cytoplasm GO:0005737 10.22 AQP4 CAV3 CKM CMYA5 DAG1 DMD

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.65 CAV3 SNTB1 UTRN
2 positive regulation of cell-matrix adhesion GO:0001954 9.56 DAG1 UTRN
3 muscle organ development GO:0007517 9.56 CAV3 DMD MSTN UTRN
4 negative regulation of MAPK cascade GO:0043409 9.55 CAV3 DAG1
5 regulation of cardiac muscle contraction GO:0055117 9.54 CAV3 NOS1
6 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.52 CAV3 LTBP4
7 myoblast fusion GO:0007520 9.51 CAV3 NOS1
8 regulation of sodium ion transmembrane transporter activity GO:2000649 9.49 CAV3 UTRN
9 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.46 DMD NOS1
10 negative regulation of calcium ion transport GO:0051926 9.4 CAV3 NOS1
11 nucleus localization GO:0051647 9.37 CAV3 DMD
12 muscle cell cellular homeostasis GO:0046716 9.33 CAV3 DMD MSTN
13 regulation of skeletal muscle contraction GO:0014819 9.32 CAV3 DMD
14 positive regulation of myotube differentiation GO:0010831 9.13 CAV3
15 skeletal muscle tissue regeneration GO:0043403 9.13 DAG1 DMD MSTN
16 response to denervation involved in regulation of muscle adaptation GO:0014894 8.8 DAG1 DMD UTRN

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

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.54 DMD LTBP4 UTRN
2 PDZ domain binding GO:0030165 9.43 DMD DTNA SNTB1
3 actin binding GO:0003779 9.35 DAG1 DMD SNTB1 SNTB2 UTRN
4 nitric-oxide synthase binding GO:0050998 9.32 CAV3 DMD
5 dystroglycan binding GO:0002162 9.16 DAG1 DMD
6 vinculin binding GO:0017166 8.8 DAG1 DMD UTRN

Sources for Duchenne Muscular Dystrophy

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