MCID: MSC005
MIFTS: 62

Muscular Dystrophy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Cardiovascular diseases categories

Summaries for Muscular Dystrophy

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9Disease Ontology, 44NIH Rare Diseases, 35MedlinePlus, 4CDC, 45NINDS, 66Wikipedia, 34MalaCards
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NINDS:45 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 congenital muscular dystrophy and becker muscular dystrophy. An important gene associated with Muscular Dystrophy is FKTN (fukutin), and among its related pathways are Nuclear Envelope Reassembly and DREAM Repression and Dynorphin Expression. The compounds creatinine and calcium have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and brain, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:9 An atrophic muscular disease that causes progressive weakness and degeneration of skeletal muscles used during voluntary movement.

NIH Rare Diseases:44 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:35 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:4 Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others.  It is important to get help as early as possible.  Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.  

Wikipedia:66 Muscular dystrophy (MD) is a group of muscle diseases that weaken the musculoskeletal system and hamper... more...

Aliases & Classifications for Muscular Dystrophy

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9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 45NINDS, 11DISEASES, 46Novoseek, 35MedlinePlus, 63UMLS, 59SNOMED-CT, 36MeSH, 28ICD9CM, 41NCIt, 26ICD10
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Classifications:



Aliases & Descriptions:

muscular dystrophy 9 66 44 45 11 35 63
muscular dystrophies 46


External Ids:

Disease Ontology9 DOID:9884
MeSH36 D009136
ICD9CM28 359.1
NCIt41 C84910
ICD1026 G71.0

Related Diseases for Muscular Dystrophy

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Congenital Muscular Dystrophy family:

muscular dystrophy Lama2-Related Muscular Dystrophy
Congenital Muscular Dystrophy Type 1a Muscular Dystrophy - Late Onset
Congenital Muscular Dystrophy, Lmna-Related Muscular Dystrophy, Congenital, 1b

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

(show top 50)    (show all 391)
idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy32.2LARGE
2becker muscular dystrophy32.2DMD
3duchenne muscular dystrophy32.1TCAP, FKTN, LAMA2, SGCB, SGCA, DMD
4facioscapulohumeral muscular dystrophy32.0FRG1
5limb-girdle muscular dystrophy32.0DMD, SGCA, FKRP, TCAP, DYSF
6emery-dreifuss muscular dystrophy31.9LMNA, EMD
7distal muscular dystrophy31.2DYSF, MYOT, DMD
8fukuyama type muscular dystrophy31.1FKTN, POMT1, LAMA2, LARGE, DMD
9mental retardation31.1DMD, POMT1, FKTN, FKRP
10miyoshi myopathy31.0DYSF
11limb-girdle muscular dystrophy type 2h31.0DYSF, TCAP, FKRP
12limb-girdle muscular dystrophy, type 2b31.0DMD, SGCA, SGCB, DYSF, TCAP, FKRP
13limb-girdle muscular dystrophy, type 1a30.9MYOT, FKRP, TCAP, DYSF
14bethlem myopathy30.9COL6A3, DMD
15limb-girdle muscular dystrophy type 2e30.9SGCA, SGCB, FKRP, TCAP, DYSF
16spinal muscular atrophy30.9LMNA, DMD
17calpainopathy30.9DYSF, TCAP, FKRP, MYOT, LMNA, SGCB
18rigid spine syndrome30.9DMD, SEPN1
19dilated cardiomyopathy30.8TCAP, FKRP, LMNA, LAMA2, EMD, SGCA
20limb-girdle muscular dystrophy, type 2g30.8DMD, MYOT, FKRP, TCAP, DYSF
21emery-dreifuss muscular dystrophy 2, ad30.8LMNA, EMD
22limb-girdle muscular dystrophy type 1c30.8DYSF, FKRP
23myopathy30.8DYSF, COL6A3, TCAP, FKRP, FKTN, MYOT
24limb-girdle muscular dystrophy type 2f30.8DYSF, TCAP, FKRP, SGCB, SGCG, SGCA
25dystrophinopathies30.8DMD
26walker-warburg syndrome30.7FKRP, FKTN, POMT1, LAMA2, LARGE, SGCA
27miyoshi muscular dystrophy 130.7DYSF
28muscular dystrophy-dystroglycanopathy , type c, 530.7LAMA2, FKRP, TCAP, DYSF
29neuromuscular disease30.7EMD, DMD, LAMA2, LMNA, MYOT, DYSF
30polymyositis30.6DMD, LAMA2, DYSF
31lissencephaly30.5DAG1, POMT1, FKTN, FKRP
32neuropathy30.3DAG1, DMD, SGCA, DYSF, FKRP, FKTN
33muscular dystrophy-dystroglycanopathy , type a, 1430.2FKRP, FKTN, POMT1, LAMA2, LARGE, DMD
34intellectual disability30.1DAG1, DMD, POMT1, FKTN, FKRP
35dmd-associated dilated cardiomyopathy30.1DMD, SGCA
36familial partial lipodystrophy30.1LMNA, EMD
37progeria30.1LMNA, EMD
38myopathy congenital30.1DMD, SEPN1, DYSF
39noonan syndrome29.8DMD, SGCA, EMD, LAMA2, DYSF, TCAP
40oculopharyngeal muscular dystrophy11.2
41ullrich congenital muscular dystrophy10.9
42fukuyama congenital muscular dystrophy10.8
43limb-girdle muscular dystrophy, type 2c10.7
44epidermolysis bullosa10.7
45congenital muscular dystrophy type 1a10.7
46epidermolysis bullosa simplex10.6
47dysphagia10.6
48limb-girdle muscular dystrophy, type 2d10.6
49muscular atrophy10.6
50cerebritis10.6

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



Diseases related to muscular dystrophy

Symptoms for Muscular Dystrophy

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Drugs & Therapeutics for Muscular Dystrophy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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Anatomical Context for Muscular Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy:

34
Skeletal muscle, Heart, Brain, Testes, Bone, Eye, Skin, Lung, T cells, Cortex, Smooth muscle, Spinal cord, Bone marrow, Liver, Retina, Endothelial, Colon, Pituitary, Monocytes, Hypothalamus, Thymus, Myeloid, Breast, Tongue, Cerebellum

Animal Models for Muscular Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Muscular Dystrophy:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4LMNA, LAMA2, LARGE, DMD
2MP:00053828.6DAG1, LARGE, LAMA2, LMNA, FKRP
3MP:00028738.3DAG1, DMD, SEPN1, LMNA, MYOT, FKRP
4MP:00053918.2DAG1, DMD, LARGE, LMNA, FKRP, COL6A3
5MP:00053878.2DMD, SGCA, SGCB, LARGE, LAMA2, POMT1
6MP:00053848.1DAG1, DMD, SGCG, EMD, SEPN1, LMNA
7MP:00053908.1DMD, SGCG, LARGE, LAMA2, SEPN1, LMNA
8MP:00107687.7DAG1, DMD, SGCG, LARGE, LAMA2, POMT1
9MP:00053857.6DAG1, DMD, SGCA, SGCG, SGCB, EMD
10MP:00053867.3DAG1, DMD, SGCG, EMD, LARGE, LAMA2
11MP:00053767.3LARGE, SGCG, SGCA, DMD, DAG1, LAMA2
12MP:00053787.1SGCB, SGCG, DMD, DAG1, LARGE, LAMA2
13MP:00053695.7DYSF, DAG1, DMD, SGCA, SGCG, SGCB

Publications for Muscular Dystrophy

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53PubMed
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Articles related to Muscular Dystrophy:

(show top 50)    (show all 3428)
idTitleAuthorsYear
1
Effect of glutamine on glucose metabolism in children with Duchenne muscular dystrophy. (23021433)
2013
2
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. (23692895)
2013
3
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. (24091664)
2013
4
Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. (23908349)
2013
5
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. (22425491)
2012
6
A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy. (22713125)
2012
7
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. (20395141)
2010
8
Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. (20715741)
2010
9
Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs. (20518731)
2010
10
Merosin-deficient congenital muscular dystrophy]. (20607928)
2010
11
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
12
Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation. (18178579)
2008
13
Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques. (18031465)
2008
14
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. (17897828)
2008
15
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. (17668377)
2007
16
Nephrolithiasis in patients with duchenne muscular dystrophy. (17707891)
2007
17
Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin. (15893581)
2005
18
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. (15154112)
2004
19
Late gadolinium enhanced cardiovascular magnetic resonance in Becker muscular dystrophy. (15310728)
2004
20
Merosin-deficient congenital muscular dystrophy in two siblings. (15591603)
2004
21
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. (12969556)
2003
22
Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology. (12685553)
2003
23
Pharmacological strategies for muscular dystrophy. (12750741)
2003
24
Glycosylation defects: a new mechanism for muscular dystrophy? (12925572)
2003
25
Nonmuscular involvement in merosin-negative congenital muscular dystrophy. (11814732)
2002
26
Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy. (11418728)
2001
27
Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype. (11248459)
2001
28
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. (10766988)
2000
29
The childhood muscular dystrophies: making order out of chaos. (10711985)
1999
30
Emery-Dreifuss muscular dystrophy. (10711990)
1999
31
Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration. (10682317)
1999
32
No evidence for heterogeneity in oculopharyngeal muscular dystrophy. (9678711)
1998
33
The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy. (9805007)
1998
34
Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. (9392019)
1997
35
Limb girdle muscular dystrophy: a prospective follow-up study of functional impairment. (9121503)
1997
36
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. (8636409)
1996
37
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. (8595433)
1995
38
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. (8595406)
1995
39
Monoclonal antibodies to dystrophin in biopsy diagnosis of Duchenne and Becker progressive muscular dystrophies]. (8020113)
1994
40
Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. (8469343)
1993
41
The cardiomyopathy of Duchenne's muscular dystrophy and the function of dystrophin. (8502196)
1993
42
Carrier detection of Duchenne/Becker muscular dystrophy: computer-assisted direct quantitation of gene amplification products. (1621929)
1992
43
Pathogenesis of Duchenne muscular dystrophy: the calcium hypothesis revisited. (1497954)
1992
44
Facioscapulohumeral muscular dystrophy gene in Dutch families is not linked to markers for familial adenomatous polyposis on the long arm of chromosome 5. (2157824)
1990
45
Adult onset limb-girdle muscular dystrophy with autosomal dominant inheritance. (2740412)
1989
46
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. (2696500)
1989
47
Oculopharyngeal muscular dystrophy in an Irish family. (2759812)
1989
48
An electron microscopical study of the T-system in biopsied muscles from Fukuyama type congenital muscular dystrophy. (6543909)
1984
49
Glyoxalase enzyme system in human muscular dystrophy. (1192606)
1975
50
Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. (5637795)
1968

Variations for Muscular Dystrophy

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Expression for genes affiliated with Muscular Dystrophy

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 56Reactome, 54QIAGEN, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Muscular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0LMNA, EMD
2
Show member pathways
9.6LMNA, DMD, DAG1
3
Show member pathways
Proteogylcan syndecan-mediated signaling events39
9.5LAMA2, DMD, DAG1
49.5DAG1, DMD, LAMA2
5
Show member pathways
8.9DAG1, DMD, LAMA2, COL6A3
6
Show member pathways
8.8DAG1, DMD, SGCA, SGCG, SGCB, LAMA2
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
8.3LMNA, DAG1, DMD, SGCA, SGCG, SGCB

Compounds for genes affiliated with Muscular Dystrophy

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46Novoseek, 52PharmGKB, 25HMDB, 12DrugBank
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Compounds related to Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine469.0SGCA, LAMA2, LMNA, FKRP, DYSF, DMD
2calcium46 52 25 129.7DYSF, DAG1, DMD, SGCB, EMD, LAMA2

GO Terms for genes affiliated with Muscular Dystrophy

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17Gene Ontology
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Cellular components related to Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcoglycan complexGO:0160129.8SGCB, SGCG, SGCA
2membrane raftGO:0451219.5SGCA, DMD, DAG1
3costamereGO:0430349.5DMD, DAG1
4cytoskeletonGO:0058569.0DAG1, DMD, SGCA, SGCG, SGCB
5dystrophin-associated glycoprotein complexGO:0160109.0DAG1, DMD, SGCA, SGCB, FKRP
6sarcolemmaGO:0423837.4DYSF, DAG1, DMD, SGCA, SGCG, SGCB
7integral component of membraneGO:0160217.1DAG1, SGCA, SGCG, EMD, POMT1, FKTN

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:00708410.1LMNA, EMD
2cardiac muscle contractionGO:06004810.0TCAP, DMD
3mitotic nuclear envelope disassemblyGO:0070779.9LMNA, EMD
4glycoprotein biosynthetic processGO:0091019.8LARGE, FKRP
5muscle contractionGO:0069369.8MYOT, EMD, SGCA
6myelination in peripheral nervous systemGO:0220119.7DAG1, LAMA2
7muscle filament slidingGO:0300499.7TCAP, DMD
8extracellular matrix organizationGO:0301988.7DAG1, DMD, LAMA2, POMT1, COL6A3
9muscle organ developmentGO:0075178.3COL6A3, DMD, SGCA, SGCG, SGCB, EMD

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:0021629.9DMD, DAG1
2vinculin bindingGO:0171669.7DMD, DAG1
3transferase activityGO:0167409.6FKTN, FKRP
4structural constituent of muscleGO:0083079.3TCAP, MYOT, DMD, DAG1
5actin bindingGO:0037799.3DAG1, DMD, EMD, MYOT
6calcium ion bindingGO:0055099.0DAG1, DMD, SGCA, SEPN1, DYSF
7protein bindingGO:0055157.4DMD, SGCG, EMD, SEPN1, LMNA, MYOT

Products for genes affiliated with Muscular Dystrophy

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Sources for Muscular Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet