MCID: MSC005
MIFTS: 54

Muscular Dystrophy malady

Neuronal category

Summaries for Muscular Dystrophy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 3CDC, 44NINDS, 64Wikipedia, 33MalaCards
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NINDS:44 The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin. MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling. MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

MalaCards: Muscular Dystrophy, also known as muscular dystrophies, is related to duchenne muscular dystrophy and becker muscular dystrophy. An important gene associated with Muscular Dystrophy is FKTN (fukutin), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Allograft rejection. The compounds calcium and creatinine have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and homeostasis/metabolism.

Disease Ontology:8 An atrophic muscular disease that causes progressive weakness and degeneration of skeletal muscles used during voluntary movement.

NIH Rare Diseases:43 Muscular dystrophy (md) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. some forms of md are seen in infancy or childhood, while others may not appear until middle age or later. the disorders differ in terms of the distribution and extent of muscle weakness (some forms of md also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. the prognosis for people with md varies according to the type and progression of the disorder. there is no specific treatment to stop or reverse any form of md. treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities. last updated: 2/16/2011

MedlinePlus:34 Muscular dystrophy (md) is a group of more than 30 inherited diseases. they all cause muscle weakness and muscle loss. some forms of md appear in infancy or childhood. others may not appear until middle age or later. the different types can vary in whom they affect, which muscles they affect, and what the symptoms are. all forms of md grow worse as the person's muscles get weaker. most people with md eventually lose the ability to walk. there is no cure for muscular dystrophy. treatments can help with the symptoms and prevent complications. they include physical and speech therapy, orthopedic devices, surgery, and medications. some people with md have mild cases that worsen slowly. others cases are disabling and severe. nih: national institute of neurological disorders and stroke

CDC:3 My Story - Real stories from people living with muscular dystrophy.

Wikipedia:64 Muscular dystrophy (MD) is a group of muscle diseases that weaken the musculoskeletal system and hamper... more...

Aliases & Classifications for Muscular Dystrophy

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 27ICD9CM, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

muscular dystrophy 8 64 43 44 10 34 61
muscular dystrophies 45


External Ids:

Disease Ontology8 DOID:9884
NCIt40 C84910
MeSH35 D009136
ICD9CM27 359.1
ICD1025 G71.0

Related Diseases for Muscular Dystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the congenital muscular dystrophy family:

muscular dystrophy congenital muscular dystrophy type 1a
muscular dystrophy - late onset muscular dystrophy, congenital, 1b
muscular dystrophy with rimmed vacuoles congenital muscular dystrophy with hyperlaxity
congenital muscular dystrophy without intellectual disability

Diseases related to Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 361)
idRelated DiseaseScoreTop Affiliating Genes
1duchenne muscular dystrophy32.2DMD
2becker muscular dystrophy31.9DMD
3limb-girdle muscular dystrophy31.9CAPN3, DYSF, SGCA, TCAP, FKRP, DMD
4facioscapulohumeral muscular dystrophy31.9FRG1
5emery-dreifuss muscular dystrophy31.7EMD, LMNA
6fukuyama type muscular dystrophy31.5DMD, POMT1, FKTN, LAMA2, LARGE
7distal muscular dystrophy31.2DMD, DYSF
8mental retardation31.1FKRP, FKTN, POMT1, DMD
9calpainopathy30.9DMD, SGCA, SGCG, SGCB, TCAP, LMNA
10walker-warburg syndrome30.9DMD, POMT1, FKRP, FKTN, DAG1, SGCA
11limb-girdle muscular dystrophy, type 2b30.8SGCA, SGCB, TCAP, MYOT, FKRP, DMD
12miyoshi myopathy30.8CAPN3, DYSF
13limb-girdle muscular dystrophy, type 1a30.8TCAP, MYOT, FKRP, DYSF, CAV3, CAPN3
14limb-girdle muscular dystrophy type 2h30.8DYSF, FKRP, TCAP, CAPN3
15limb-girdle muscular dystrophy type 2e30.8SGCA, SGCB, TCAP, FKRP, DYSF, CAPN3
16limb-girdle muscular dystrophy, type 2g30.7DMD, DYSF, CAPN3, FKRP, MYOT, TCAP
17limb-girdle muscular dystrophy, type 1b30.7CAV3, LMNA
18limb-girdle muscular dystrophy type 2f30.7SGCA, SGCG, SGCB, TCAP, FKRP, DMD
19myopathy congenital30.6SEPN1, DMD, DYSF
20muscular dystrophy-dystroglycanopathy , type c, 530.6CAPN3, LAMA2, TCAP, FKRP, DYSF
21protein s deficiency30.6CAV3, LAMA2, DMD, DYSF, CAPN3
22limb-girdle muscular dystrophy type 1c30.6DYSF, FKRP, CAV3
23rigid spine syndrome30.6DMD, SEPN1
24emery-dreifuss muscular dystrophy 2, ad30.5EMD, LMNA
25dysferlinopathy30.5DYSF
26lissencephaly30.5POMT1, FKRP, FKTN, DAG1
27malignant hyperthermia30.4SEPN1
28polymyositis30.4DMD, LAMA2, DYSF
29muscular dystrophy-dystroglycanopathy , type a, 1430.3LAMA2, DAG1, FKTN, FKRP, POMT1, LARGE
30myofibrillar myopathy30.1MYOT
31dystrophinopathies30.1DMD
32noonan syndrome29.9CAV3, DYSF, DMD, FKRP, MYOT, EMD
33dmd-associated dilated cardiomyopathy29.9SGCA, DMD
34familial partial lipodystrophy29.9LMNA, EMD
35oculopharyngeal muscular dystrophy11.2
36fukuyama congenital muscular dystrophy11.1
37ullrich congenital muscular dystrophy10.8
38muscular atrophy10.7
39muscular dystrophy, congenital, merosin-positive10.6
40epidermolysis bullosa simplex10.6
41muscular dystrophy, duchenne and becker types10.6
42ocular muscular dystrophy10.6
43dysphagia10.6
44lama2-related muscular dystrophy10.6
45congenital muscular dystrophy type 1a10.6
46muscular dystrophy - late onset10.6
47bethlem myopathy10.6
48limb-girdle muscular dystrophy, type 2d10.6
49limb-girdle muscular dystrophy, type 2c10.6
50spinal muscular atrophy10.6

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



Diseases related to muscular dystrophy

Clinical Features for Muscular Dystrophy

Drugs & Therapeutics for Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy

Search NIH Clinical Center for Muscular Dystrophy

Search CenterWatch for Muscular Dystrophy

Genetic Tests for Muscular Dystrophy

Anatomical Context for Muscular Dystrophy

Animal Models for Muscular Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Muscular Dystrophy

Sources:
51PubMed
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Articles related to Muscular Dystrophy:

(show top 50)    (show all 3374)
idTitleAuthorsYear
1
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase i/iia clinical study. (23831596)
2014
2
Nanopatterned muscle cell patches for enhanced myogenesis and dystrophin expression in a mouse model of muscular dystrophy. (24290810)
2014
3
Surgery for scoliosis in Duchenne muscular dystrophy. (23450561)
2013
4
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. (24163611)
2013
5
Germinal Mosaicism in a Sample of Families with Duchenne/Becker Muscular Dystrophy with Partial Deletions in the DMD Gene. (24236769)
2013
6
Cell penetrating peptide delivery of splice directing oligonucleotides as a treatment for Duchenne muscular dystrophy. (23140454)
2013
7
A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement. (22240398)
2012
8
Survival in Duchenne muscular dystrophy. (23097602)
2012
9
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. (22419172)
2012
10
Upper limb function in adults with Duchenne muscular dystrophy. (21826385)
2011
11
Dystrophin conferral using human endothelium expressing HLA-E in the non-immunosuppressive murine model of Duchenne muscular dystrophy. (20947660)
2011
12
Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification. (22234189)
2011
13
Efficacy and safety of gastrostomy feeding in Duchenne muscular dystrophy. (21051125)
2011
14
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. (20395141)
2010
15
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. (20350330)
2010
16
A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin. (19158079)
2009
17
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. (19713152)
2009
18
Natural history of Ullrich congenital muscular dystrophy. (19564581)
2009
19
Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques. (18031465)
2008
20
Limb-girdle muscular dystrophy type 2B mimicking polymyositis. (18392421)
2008
21
Sudden death in an Emery-Dreifuss muscular dystrophy patient with an implantable defibrillator. (18356623)
2008
22
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. (17634419)
2007
23
Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy. (16619122)
2006
24
Cardiac involvement in Fukuyama-type congenital muscular dystrophy. (16717122)
2006
25
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? (16487936)
2006
26
Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy. (16143867)
2006
27
Electron microscopic findings of cardiomyopathy with limb girdle muscular dystrophy. (15676184)
2005
28
Altered expression of myostatin gene in the progressive muscular dystrophy patients]. (16231730)
2005
29
Congenital muscular dystrophy: molecular and cellular aspects. (15868406)
2005
30
Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy. (15578095)
2004
31
Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy. (14977063)
2004
32
Dysferlin mutation analysis in a group of Italian patients with limb- girdle muscular dystrophy and Miyoshi myopathy. (15469449)
2004
33
Chimeric RNA/ethylene-bridged nucleic acids promote dystrophin expression in myocytes of duchenne muscular dystrophy by inducing skipping of the nonsense mutation-encoding exon. (15319032)
2004
34
Successful bridge to transplantation in a patient with Becker muscular dystrophy-associated cardiomyopathy. (12100911)
2002
35
Early onset adhalinopathy (LGMD2D) mimicking congenital muscular dystrophy]. (11391490)
2001
36
Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. (11087833)
2000
37
Animal models for muscular dystrophy: valuable tools for the development of therapies. (11005802)
2000
38
A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences. (10191080)
1999
39
Scoliosis in Duchenne muscular dystrophy: aspects of orthotic treatment. (9453095)
1997
40
Extraocular muscle involvement in Becker muscular dystrophy. (8614536)
1996
41
Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). (7739625)
1995
42
Anionic phospholipids calcium binding sites in Duchenne and murine X-linked muscular dystrophy. (8159177)
1994
43
Report of the sixth International Workshop on Facioscapulohumeral Muscular Dystrophy: San Francisco, 11 November 1992; and current guidelines for clinical application of DNA rearrangements at locus D4S810. Muscular Dystrophy Group of America. (8173356)
1994
44
Emery-Dreifuss Muscular Dystrophy (20301609)
1993
45
Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy. (1480320)
1992
46
Childhood onset oculopharyngeal muscular dystrophy. (1764143)
1991
47
Correlation between clinical features and deletions of the gene for dystrophin in Duchenne muscular dystrophy. (1865568)
1991
48
Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. (1944407)
1991
49
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. (2063877)
1991
50
Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences. (2303244)
1990

Genetic Variations for Muscular Dystrophy

Expression for genes affiliated with Muscular Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy

Search GEO for disease gene expression data for Muscular Dystrophy.

Pathways for genes affiliated with Muscular Dystrophy

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN
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Compounds for genes affiliated with Muscular Dystrophy

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
See all sources

Compounds related to Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 50 11 2414.8CAV3, DYSF, DMD, POMT1, EMD, DAG1
2creatinine4511.1LAMA2, CAPN3, CAV3, DYSF, DMD, FKRP

GO Terms for genes affiliated with Muscular Dystrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:04238311.7CAV3, SGCA, SGCG, SGCB, DAG1, MYOT
2dystrophin-associated glycoprotein complexGO:01601011.3FKRP, CAV3, DAG1, SGCB, SGCA, DMD
3Z discGO:03001811.1CAV3, CAPN3, TCAP, MYOT, DMD
4sarcoglycan complexGO:01601210.8SGCB, SGCG, SGCA
5cytoskeletonGO:00585610.8SGCB, SGCG, SGCA
6T-tubuleGO:03031510.7CAPN3, CAV3, DYSF
7membrane raftGO:04512110.7DAG1, DMD, SGCA, CAV3

Biological processes related to Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00751711.9LAMA2, CAPN3, CAV3, DMD, FKTN, EMD
2muscle cell cellular homeostasisGO:04671611.2CAPN3, CAV3, DMD, LARGE
3extracellular matrix organizationGO:03019811.0DMD, POMT1, DAG1, LAMA2
4nucleus localizationGO:05164710.9CAV3, DMD
5regulation of skeletal muscle contractionGO:01481910.9CAV3, DMD
6glycoprotein biosynthetic processGO:00910110.9FKRP, LARGE
7plasma membrane repairGO:00177810.8CAV3, DYSF
8mitotic nuclear envelope reassemblyGO:00708410.8LMNA, EMD
9muscle contractionGO:00693610.7SGCA, EMD, MYOT
10sarcomere organizationGO:04521410.7TCAP, CAPN3
11negative regulation of MAPK cascadeGO:04340910.4DAG1, CAV3

Molecular functions related to Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.6MYOT, DMD, DYSF, CAV3, CAPN3, EMD
2structural constituent of muscleGO:00830711.2TCAP, DAG1, MYOT, DMD, CAPN3
3calcium ion bindingGO:00550911.1SEPN1, SGCA, DAG1, DMD, CAPN3
4actin bindingGO:00377910.9DAG1, EMD, MYOT, DMD
5nitric-oxide synthase bindingGO:05099810.8CAV3, DMD
6vinculin bindingGO:01716610.8DAG1, DMD
7titin bindingGO:03143210.7CAPN3, TCAP

Products for genes affiliated with Muscular Dystrophy

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  • Proteins
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Sources for Muscular Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet