MCID: MSC005
MIFTS: 62

Muscular Dystrophy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Cardiovascular diseases categories
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Summaries for Muscular Dystrophy

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NINDS:43 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 based summary: Muscular Dystrophy, also known as muscular dystrophies, is related to becker muscular dystrophy and congenital 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:8 A myopathy is characterized by progressive skeletal muscle weakness degeneration.

NIH Rare Diseases:42 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:33 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

Wikipedia:65 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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Muscular Dystrophy, Aliases & Descriptions:

Name: Muscular Dystrophy 8 65 42 43 10 33 62
 
Muscular Dystrophies 44 62


Classifications:



External Ids:

Disease Ontology8 DOID:9884
NCIt39 C84910
ICD9CM27 359.1
MeSH34 D009136
ICD1025 G71.0

Related Diseases for Muscular Dystrophy

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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
1becker muscular dystrophy32.7DMD
2congenital muscular dystrophy32.7LARGE
3facioscapulohumeral muscular dystrophy32.4FRG1
4emery-dreifuss muscular dystrophy32.3LMNA, EMD
5limb-girdle muscular dystrophy32.1DMD, TCAP, DYSF, FKRP, SGCA
6duchenne muscular dystrophy31.8LAMA2, TCAP, DMD, DAG1, SGCA, SGCB
7miyoshi myopathy31.6DYSF
8distal muscular dystrophy31.5DYSF, DMD, MYOT
9miyoshi muscular dystrophy 131.4DYSF
10rigid spine syndrome31.4SEPN1, DMD
11emery-dreifuss muscular dystrophy 2, ad31.3LMNA, EMD
12spinal muscular atrophy31.3DMD, LMNA
13limb-girdle muscular dystrophy type 2h31.3TCAP, FKRP, DYSF
14dystrophinopathies31.3DMD
15mental retardation31.2POMT1, FKTN, FKRP, DMD
16limb-girdle muscular dystrophy type 1c31.2FKRP, DYSF
17calpainopathy31.1SGCB, DYSF, FKRP, TCAP, SGCA
18bethlem myopathy31.1COL6A3, DMD
19limb-girdle muscular dystrophy, type 1a31.1DYSF, TCAP, FKRP, MYOT
20polymyositis31.0DMD, DYSF, LAMA2
21limb-girdle muscular dystrophy, type 2g30.9MYOT, TCAP, DYSF, DMD, FKRP
22muscular dystrophy-dystroglycanopathy , type c, 530.9TCAP, FKRP, LAMA2, DYSF
23muscular dystrophy-dystroglycanopathy , type b, 530.8LAMA2, POMT1, FKTN, FKRP
24limb-girdle muscular dystrophy, type 2b30.8SGCA, SGCB, MYOT, FKRP, TCAP, DYSF
25dilated cardiomyopathy30.8TCAP, FKRP, LMNA, LAMA2, SGCA, EMD
26limb-girdle muscular dystrophy type 2f30.7DYSF, DMD, SGCA, SGCG, SGCB, FKRP
27muscular dystrophy-dystroglycanopathy , type a, 430.7FKTN, POMT1, DMD, LARGE, LAMA2
28neuromuscular disease30.6DYSF, LMNA, MYOT, TCAP, LAMA2, EMD
29progeria30.6LMNA, EMD
30dmd-associated dilated cardiomyopathy30.6DMD, SGCA
31myopathy congenital30.4DYSF, DMD, SEPN1
32lissencephaly30.4FKTN, FKRP, DAG1, POMT1
33walker-warburg syndrome30.1FKTN, DAG1, DMD, SGCA, LARGE, LAMA2
34muscular dystrophy-dystroglycanopathy , type a, 129.9FKRP, DAG1, DMD, LARGE, LAMA2, POMT1
35noonan syndrome29.5LMNA, MYOT, FKRP, TCAP, DYSF, LAMA2
36neuropathy29.1DAG1, DMD, SGCA, SGCG, SGCB, EMD
37myopathy29.0DYSF, COL6A3, TCAP, FKRP, FKTN, SEPN1
38oculopharyngeal muscular dystrophy11.2
39ullrich congenital muscular dystrophy10.9
40fukuyama congenital muscular dystrophy10.8
41fukuyama type muscular dystrophy10.8
42limb-girdle muscular dystrophy, type 2c10.8
43epidermolysis bullosa10.7
44congenital muscular dystrophy type 1a10.7
45dysphagia10.7
46epidermolysis bullosa simplex10.7
47cerebritis10.7
48muscular dystrophy, duchenne and becker types10.7
49lama2-related muscular dystrophy10.6
50limb-girdle muscular dystrophy, type 2d10.6

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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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy

Search NIH Clinical Center for Muscular Dystrophy

Genetic Tests for Muscular Dystrophy

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Anatomical Context for Muscular Dystrophy

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MalaCards organs/tissues related to Muscular Dystrophy:

32
Skeletal muscle, Heart, Brain, Testes, Bone, Eye, Skin, Lung, Liver, Bone marrow, Cortex, Spinal cord, Smooth muscle, T cells, Retina, Monocytes, Endothelial, Colon, Pituitary, Thymus, Cerebellum, Breast, Myeloid, Hypothalamus, Tongue

Animal Models for Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Muscular Dystrophy:

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

Publications for Muscular Dystrophy

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Articles related to Muscular Dystrophy:

(show top 50)    (show all 3565)
idTitleAuthorsYear
1
Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy. (24604798)
2014
2
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. (25307856)
2014
3
Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L. (25149668)
2014
4
Effect of glutamine on glucose metabolism in children with Duchenne muscular dystrophy. (23021433)
2013
5
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster? (24449978)
2013
6
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. (23692895)
2013
7
Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/I^-catenin pathway. (24091664)
2013
8
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
9
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. (22425491)
2012
10
A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy. (22713125)
2012
11
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. (20395141)
2010
12
Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. (20715741)
2010
13
Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs. (20518731)
2010
14
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. (20634290)
2010
15
Merosin-deficient congenital muscular dystrophy]. (20607928)
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
Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation. (18178579)
2008
18
Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques. (18031465)
2008
19
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. (17897828)
2008
20
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. (17668377)
2007
21
Nephrolithiasis in patients with duchenne muscular dystrophy. (17707891)
2007
22
Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin. (15893581)
2005
23
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. (15154112)
2004
24
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. (12969556)
2003
25
Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology. (12685553)
2003
26
Nonmuscular involvement in merosin-negative congenital muscular dystrophy. (11814732)
2002
27
Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy. (11418728)
2001
28
Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype. (11248459)
2001
29
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. (10766988)
2000
30
The childhood muscular dystrophies: making order out of chaos. (10711985)
1999
31
Emery-Dreifuss muscular dystrophy. (10711990)
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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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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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 events37
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 cardiomyopathy37
8.3LMNA, DAG1, DMD, SGCA, SGCG, SGCB

Compounds for genes affiliated with Muscular Dystrophy

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Sources:
44Novoseek, 50PharmGKB, 24HMDB, 11DrugBank
See all sources

Compounds related to Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine449.0SGCA, LAMA2, LMNA, FKRP, DYSF, DMD
2calcium44 50 24 119.7DYSF, DAG1, DMD, SGCB, EMD, LAMA2

GO Terms for genes affiliated with Muscular Dystrophy

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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:0070779.9EMD, LMNA
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:0301988.7COL6A3, POMT1, LAMA2, DMD, DAG1
9muscle organ developmentGO:0075178.3SGCA, SGCG, SGCB, EMD, LAMA2, LMNA

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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  • Antibodies
  • Proteins
  • Lysates

Sources for Muscular Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet