DMD
MCID: DCH001
MIFTS: 79

Duchenne Muscular Dystrophy (DMD) malady

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

Aliases & Classifications for Duchenne Muscular Dystrophy

Aliases & Descriptions for Duchenne Muscular Dystrophy:

Name: Duchenne Muscular Dystrophy 54 38 12 50 24 56 66 13 14
Muscular Dystrophy, Duchenne 12 50 29 42 69
Dmd 50 24 56 66
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
Muscular Dystrophy, Duchenne Type 54
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;

HPO:

32
duchenne muscular dystrophy:
Onset and clinical course childhood onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 310200
Disease Ontology 12 DOID:11723
MeSH 42 D020388
NCIt 47 C75482
Orphanet 56 ORPHA98896
MESH via Orphanet 43 D020388
UMLS via Orphanet 70 C0013264
ICD10 via Orphanet 34 G71.0
MedGen 40 C0013264
UMLS 69 C0013264

Summaries for Duchenne Muscular Dystrophy

OMIM : 54 Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker... (310200) more...

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 waddling gait, muscular hypotonia and scoliosis. An important gene associated with Duchenne Muscular Dystrophy is DMD (Dystrophin), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression 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 cardiovascular system and behavior/neurological

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.

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 : 66 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 : 71 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 141)
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 chromosome xp21 deletion syndrome 11.0
9 adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism 11.0
10 cardiomyopathy 10.5
11 dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis 10.3 DMD UTRN
12 neuromuscular disease 10.3
13 scoliosis 10.3
14 autosomal recessive nonsyndromic deafness 47 10.3 DAG1 DMD
15 leukemia, megakaryoblastic, with or without down syndrome, somatic 10.3 DMD GK OTC
16 cardiomyopathy, dilated, 1aa, with or without lvnc 10.3 DAG1 DMD
17 prosthetic joint infection 10.3 DMD MB NOS1
18 sudden infant death with dysgenesis of the testes syndrome 10.2 DAG1 DMD
19 rippling muscle disease 10.2 CAV3 MSTN
20 vulvar vestibulitis syndrome 10.2 MB PIK3C2A
21 thrombocytopenia, x-linked 10.2 DMD GK NOS1 UTRN
22 spinal muscular atrophy 10.2
23 muscular atrophy 10.2
24 cardiomyopathy, dilated, 1x 10.2 DAG1 DMD ITGA7
25 parkinsonism with spasticity, x-linked 10.2 DMD GK OTC PIK3C2A
26 pancreatic agenesis 1 10.2 DAG1 DMD
27 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.2 CAV3 MSTN
28 glycogen storage disease 0, muscle 10.2 CAV3 DAG1 DMD
29 dilated cardiomyopathy 10.2
30 muscular dystrophy, limb-girdle, type 1b 10.2 DAG1 DMD ITGA7 UTRN
31 myopathy, distal, tateyama type 10.2 CAV3 MB PIK3C2A
32 vulvar eccrine adenocarcinoma 10.2 DMD MB MSTN PIK3C2A
33 sdhc-related paraganglioma and gastric stromal sarcoma 10.2 AQP4 DAG1 DMD UTRN
34 microscopic breast papilloma 10.1 DAG1 DMD MB PIK3C2A
35 ischemia 10.1
36 cerebritis 10.1
37 myopathy 10.1
38 dysphagia 10.1
39 papillary pattern testicular yolk sac tumor 10.1 MB PIK3C2A
40 central corneal ulcer 10.1 CAV3 DAG1 DMD UTRN
41 retinitis 10.1
42 myotonic dystrophy 10.1
43 epilepsy 10.1
44 neuronitis 10.1
45 adult t-cell leukemia 10.1 CKM MB PIK3C2A
46 paraurethral gland cancer 10.0 AQP4 MB
47 endotheliitis 10.0
48 macroglossia 10.0
49 polymyositis 10.0
50 osteoporosis 10.0

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 by clinical synopsis from OMIM:

310200

Clinical features from OMIM:

310200

Human phenotypes related to Duchenne Muscular Dystrophy:

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

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 cardiovascular system MP:0005385 10.25 AQP4 CAV3 CKM DAG1 DMD DTNA
2 behavior/neurological MP:0005386 10.23 DAG1 DMD DTNA ITGA7 LTBP4 MSTN
3 growth/size/body region MP:0005378 10.18 AQP4 CKM DAG1 DMD DTNA ITGA7
4 cellular MP:0005384 10.14 ITGA7 LTBP4 MB MSTN NOS1 OTC
5 homeostasis/metabolism MP:0005376 10.13 AQP4 CAV3 CKM DAG1 DMD ITGA7
6 mortality/aging MP:0010768 10.03 AQP4 DAG1 DMD DTNA ITGA7 LTBP4
7 muscle MP:0005369 9.9 NOS1 UTRN CAV3 CKM DAG1 DMD
8 nervous system MP:0003631 9.65 DMD DTNA ITGA7 NOS1 OTC PIK3C2A
9 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 202)
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 2,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 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
Creatine Approved, Nutraceutical Phase 2, Phase 3 57-00-1 586
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 208)
id Name Status NCT ID Phase
1 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4
2 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4
3 Tadalafil in Becker Muscular Dystrophy Completed NCT01070511 Phase 4
4 PDE5 Inhibition to Alleviate Functional Muscle Ischemia in Becker Muscular Dystrophy Completed NCT02207283 Phase 4
5 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
8 L-citrulline and Metformin in Duchenne's Muscular Dystrophy Completed NCT01995032 Phase 3
9 Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Completed NCT00592553 Phase 2, Phase 3
10 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3
11 A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3
12 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3
13 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3
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
15 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3
16 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3
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 A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids Recruiting NCT02814019 Phase 3
19 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3
20 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
21 A Research Study of Zoledronic Acid in Children and Adolescents With Osteoporosis Recruiting NCT00799266 Phase 3
22 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3
23 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3
24 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3
25 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3
26 Confirmatory Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3
27 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3
28 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3
29 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3
30 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3
31 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Not yet recruiting NCT02851797 Phase 3
32 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Not yet recruiting NCT03179631 Phase 3
33 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3
34 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3
35 Extension Study of Drisapersen in DMD Subjects Terminated NCT02636686 Phase 3
36 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3
37 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3
38 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3
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
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
44 Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy Unknown status NCT01834040 Phase 1, Phase 2
45 Study Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Muscular Dystrophy. Unknown status NCT01834066 Phase 1, Phase 2
46 Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy Completed NCT00264888 Phase 2
47 Safety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular Dystrophy Completed NCT00159250 Phase 1, Phase 2
48 Efficacy and Tolerability of Idebenone in Boys With Cardiac Dysfunction Associated With Duchenne Muscular Dystrophy Completed NCT00654784 Phase 2
49 Efficacy Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy Patients Completed NCT01396239 Phase 2
50 CRD007 for the Treatment of Duchenne Muscular Dystrophy, Becker Muscular Dystrophy and Symptomatic Carriers Completed NCT01540604 Phase 2

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, Smooth Muscle, Bone, 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 921)
id Title Authors Year
1
The Direct Cost of Managing a Rare Disease: Assessing Medical and Pharmacy Costs Associated with Duchenne Muscular Dystrophy in the United States. ( 28530521 )
2017
2
Potential Therapeutic Action of Adiponectin in Duchenne Muscular Dystrophy. ( 28463682 )
2017
3
A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy. ( 28288529 )
2017
4
Towards a short questionnaire for stepwise assessment of upper limb function, pain and stiffness in Duchenne muscular dystrophy. ( 28084836 )
2017
5
First Drug Approved for Duchenne Muscular Dystrophy. ( 28030401 )
2017
6
Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy. ( 27979502 )
2017
7
Does Body Mass Index Predict Premature Cardiomyopathy Onset for Duchenne Muscular Dystrophy? ( 28084148 )
2017
8
Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged a8o3 Years: A Retrospective Study. ( 28533764 )
2017
9
The golden retriever model of Duchenne muscular dystrophy. ( 28526070 )
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
Electrical impedance myography for assessment of Duchenne muscular dystrophy. ( 28076894 )
2017
12
Relationship Between Fragmented QRS Complexes and Cardiac Status in Duchenne Muscular Dystrophy: Multimodal Validation Using Echocardiography, Magnetic Resonance Imaging, and Holter Monitoring. ( 28456833 )
2017
13
Effectiveness of Coenzyme Q10 on echocardiographic parameters of patients with Duchenne muscular dystrophy. ( 28461862 )
2017
14
Androgen Receptor Agonists Increase Lean Mass, Improve Cardiopulmonary Functions, and Extend Survival in Preclinical Models of Duchenne Muscular Dystrophy. ( 28453658 )
2017
15
Exon skipping: a first in class strategy for Duchenne muscular dystrophy. ( 27936976 )
2017
16
Two Cases of Duchenne Muscular Dystrophy That Showed Different Reactions to Nerve Stimulation During Peripheral Nerve Block: A Case Report. ( 28459722 )
2017
17
Pharmacological Inhibition of PKCI, Counteracts Muscle Disease in a Mouse Model of Duchenne Muscular Dystrophy. ( 28089792 )
2017
18
Pharmacological advances for treatment in Duchenne muscular dystrophy. ( 28486179 )
2017
19
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
20
Correlation of Serum Creatine Kinase Level With Pulmonary Function in Duchenne Muscular Dystrophy. ( 28503465 )
2017
21
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. ( 28079318 )
2017
22
Genomic integration of the full-length dystrophin coding sequence in Duchenne muscular dystrophy induced pluripotent stem cells. ( 28139886 )
2017
23
Newborn screening for Duchenne muscular dystrophy in China: Follow-up diagnosis and subsequent treatment. ( 28466241 )
2017
24
Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway. ( 28472288 )
2017
25
Growing patients with Duchenne muscular dystrophy: longitudinal changes in their dentofacial morphology and orofacial functional capacities. ( 28520860 )
2017
26
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
27
Evaluation of the behavioral characteristics of the mdx mouse model of duchenne muscular dystrophy through operant conditioning procedures. ( 28532665 )
2017
28
Repression of phosphatidylinositol transfer protein I+ ameliorates the pathology of Duchenne muscular dystrophy. ( 28533404 )
2017
29
Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status. ( 28491099 )
2017
30
Mechanical insufflation-exsufflation for an individual with Duchenne muscular dystrophy and a lower respiratory infection. ( 27999675 )
2017
31
Variations in Duchenne muscular dystrophy course in a multi-ethnic UK population: potential influence of socio-economic factors. ( 28509411 )
2017
32
Digital Droplet PCR for the Absolute Quantification of Exon Skipping Induced by Antisense Oligonucleotides in (Pre-)Clinical Development for Duchenne Muscular Dystrophy. ( 27612288 )
2016
33
Long-Term Efficacy, Safety, and Pharmacokinetics of Drisapersen in Duchenne Muscular Dystrophy: Results from an Open-Label Extension Study. ( 27588424 )
2016
34
Comparison of left ventricular function assessment between echocardiography and MRI in Duchenne muscular dystrophy. ( 27173979 )
2016
35
Impact of corticotherapy, nutrition, and sleep disorder on quality of life of patients with Duchenne muscular dystrophy. ( 26701140 )
2016
36
Longitudinal MRI quantification of muscle degeneration in Duchenne muscular dystrophy. ( 27606343 )
2016
37
The Olympic rings of Duchenne muscular dystrophy - cardiac computed tomography wins gold. ( 27599971 )
2016
38
Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan. ( 28003112 )
2016
39
Duchenne muscular dystrophy drugs face tough path to approval. ( 27186594 )
2016
40
Simvastatin offers new prospects for the treatment of Duchenne muscular dystrophy. ( 27141415 )
2016
41
Management of scoliosis in patients with Duchenne muscular dystrophy and spinal muscular atrophy: A literature review. ( 26966797 )
2016
42
Anti-inflammatory drugs for Duchenne muscular dystrophy: focus on skeletal muscle-releasing factors. ( 27621596 )
2016
43
Recurrent Fat Embolic Strokes in a Patient With Duchenne Muscular Dystrophy With Long Bone Fractures and a Patent Foramen Ovale. ( 27595520 )
2016
44
Respiratory impedance in patients with Duchenne muscular dystrophy. ( 27129130 )
2016
45
Engaging Participants in Rare Disease Research: A Qualitative Study of Duchenne Muscular Dystrophy. ( 27136712 )
2016
46
Unique pattern of late gadolinium enhancement on cardiac magnetic resonance imaging in Duchenne muscular dystrophy. ( 27212861 )
2016
47
Impact of P2RX7 ablation on the morphological, mechanical and tissue properties of bones in a murine model of duchenne muscular dystrophy. ( 27663621 )
2016
48
Levels of inflammation and oxidative stress, and a role for taurine in dystropathology of the Golden Retriever Muscular Dystrophy dog model for Duchenne Muscular Dystrophy. ( 27611888 )
2016
49
Usefulness of continuous actigraph monitoring in the assessment of the effect of corticosteroid treatment for Duchenne muscular dystrophy: a case report. ( 27942159 )
2016
50
Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy. ( 27529242 )
2016

Variations for Duchenne Muscular Dystrophy

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

66
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 389)
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 DMD, IVS65, G-A, +1 single nucleotide variant Pathogenic
38 DMD NM_004006.2(DMD): c.3188G> A (p.Trp1063Ter) single nucleotide variant Pathogenic rs128626246 GRCh37 Chromosome X, 32482791: 32482791
39 DMD NM_004006.2(DMD): c.4213C> T (p.Gln1405Ter) single nucleotide variant Pathogenic rs128626247 GRCh37 Chromosome X, 32429889: 32429889
40 DMD NM_004006.2(DMD): c.4414C> T (p.Gln1472Ter) single nucleotide variant Pathogenic rs128626248 GRCh37 Chromosome X, 32407722: 32407722
41 DMD NM_004006.2(DMD): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic rs128626249 GRCh37 Chromosome X, 32360240: 32360240
42 DMD DMD, 1-BP DEL, 6408C deletion Pathogenic
43 DMD NM_004006.2(DMD): c.6292C> T (p.Arg2098Ter) single nucleotide variant Pathogenic rs128626250 GRCh37 Chromosome X, 32235179: 32235179
44 DMD NM_004006.2(DMD): c.6373C> T (p.Gln2125Ter) single nucleotide variant Pathogenic rs128626251 GRCh37 Chromosome X, 32235098: 32235098
45 DMD DMD, 17-BP DEL, NT6982 deletion Pathogenic
46 DMD NM_004006.2(DMD): c.6790C> T (p.Gln2264Ter) single nucleotide variant Pathogenic rs128626252 GRCh37 Chromosome X, 31947835: 31947835
47 DMD DMD, 1-BP INS, 7188A insertion Pathogenic
48 DMD DMD, IVS47, G-A, +1, EX48DEL deletion Pathogenic
49 DMD NM_004006.2(DMD): c.7402G> T (p.Glu2468Ter) single nucleotide variant Pathogenic rs128626253 GRCh37 Chromosome X, 31792217: 31792217
50 DMD NM_004006.2(DMD): c.9197C> A (p.Ser3066Ter) single nucleotide variant Pathogenic rs128626254 GRCh37 Chromosome X, 31341742: 31341742

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

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 9.73 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 9.63 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 14)
id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.63 CAV3 SNTB1 UTRN
2 regulation of cardiac muscle contraction GO:0055117 9.54 CAV3 NOS1
3 myoblast fusion GO:0007520 9.52 CAV3 NOS1
4 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.51 CAV3 LTBP4
5 regulation of sodium ion transmembrane transporter activity GO:2000649 9.49 CAV3 UTRN
6 negative regulation of MAPK cascade GO:0043409 9.48 CAV3 DAG1
7 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.43 DMD NOS1
8 skeletal muscle tissue regeneration GO:0043403 9.43 DAG1 DMD MSTN
9 negative regulation of calcium ion transport GO:0051926 9.4 CAV3 NOS1
10 nucleus localization GO:0051647 9.37 CAV3 DMD
11 muscle cell cellular homeostasis GO:0046716 9.33 CAV3 DMD MSTN
12 regulation of skeletal muscle contraction GO:0014819 9.32 CAV3 DMD
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.13 DAG1 DMD UTRN
14 muscle organ development GO:0007517 9.02 CAV3 DMD ITGA7 MSTN 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
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30 HGMD
31 HMDB
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