MCID: MSC005
MIFTS: 62

Muscular Dystrophy malady

Neuronal diseases, Muscle diseases categories

Summaries for Muscular Dystrophy

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8Disease Ontology, 42NIH Rare Diseases, 33MedlinePlus, 3CDC, 43NINDS, 63Wikipedia, 32MalaCards
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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: Muscular Dystrophy, also known as muscular dystrophies, is related to duchenne muscular dystrophy and congenital 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. Affiliated tissues include skeletal muscle, brain and heart, and 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: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

CDC:3 Muscular dystrophies are a group of disorders that result in muscle weakness and a decrease in muscle mass over time. Some muscular dystrophies are not identified until a child is 3 to 6 years of age, but can be diagnosed earlier. To help a child with muscular dystrophy reach his or her full potential, it is very important to get help as early as possible. Acting early can make a real difference!

Wikipedia:63 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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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 33MedlinePlus, 60UMLS, 44Novoseek, 39NCIt, 56SNOMED-CT, 34MeSH, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

muscular dystrophy 8 63 42 43 10 33 60
muscular dystrophies 44


External Ids:

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

Related Diseases for Muscular Dystrophy

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17GeneCards, 18GeneDecks
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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 365)
idRelated DiseaseScoreTop Affiliating Genes
1duchenne muscular dystrophy32.2DMD
2congenital muscular dystrophy32.0LARGE
3becker muscular dystrophy31.9DMD
4limb-girdle muscular dystrophy31.9TCAP
5facioscapulohumeral muscular dystrophy31.8FRG1
6emery-dreifuss muscular dystrophy31.7LMNA, EMD
7myopathy31.3DMD, POMT1, FKRP, FKTN, MYOT, EMD
8distal muscular dystrophy31.1DYSF, DMD
9fukuyama type muscular dystrophy31.1LARGE, LAMA2, FKTN, POMT1, DMD
10calpainopathy30.9CAPN3, CAV3, DYSF, DMD, FKRP, MYOT
11walker-warburg syndrome30.9LARGE, LAMA2, DMD, POMT1, FKRP, FKTN
12dilated cardiomyopathy30.8SGCA, LAMA2, TCAP, LMNA, EMD, DMD
13limb-girdle muscular dystrophy, type 2b30.8DMD, FKRP, MYOT, TCAP, SGCB, SGCA
14limb-girdle muscular dystrophy, type 1a30.8CAPN3, CAV3, DYSF, FKRP, MYOT, TCAP
15limb-girdle muscular dystrophy type 2h30.8CAPN3, DYSF, FKRP, TCAP
16limb-girdle muscular dystrophy type 2e30.8CAPN3, DYSF, FKRP, TCAP, SGCB, SGCA
17limb-girdle muscular dystrophy, type 2g30.7TCAP, MYOT, CAPN3, DYSF, DMD, FKRP
18myositis30.7CAPN3, DYSF, DMD
19limb-girdle muscular dystrophy, type 1b30.7CAV3, LMNA
20limb-girdle muscular dystrophy type 2f30.7TCAP, SGCB, SGCG, SGCA, FKRP, DMD
21neuropathy30.7MYOT, EMD, DAG1, LMNA, SGCB, SGCG
22lipodystrophy30.7LMNA, EMD
23neuromuscular disease30.7CAPN3, CAV3, DYSF, DMD, MYOT, EMD
24emery-dreifuss muscular dystrophy 2, ad30.6EMD, LMNA
25muscular dystrophy-dystroglycanopathy , type c, 530.6CAPN3, DYSF, FKRP, TCAP, LAMA2
26limb-girdle muscular dystrophy type 1c30.6FKRP, DYSF, CAV3
27dysferlinopathy30.5DYSF
28dystrophinopathies30.5DMD
29lissencephaly30.4POMT1, FKRP, FKTN, DAG1
30malignant hyperthermia30.4SEPN1
31respiratory failure30.4LAMA2
32muscular dystrophy-dystroglycanopathy , type a, 1430.3DMD, POMT1, FKRP, FKTN, DAG1, LAMA2
33miyoshi myopathy30.3DYSF, CAPN3
34intellectual disability30.1DMD, POMT1, FKRP, FKTN, DAG1
35myofibrillar myopathy30.1MYOT
36noonan syndrome29.9SGCA, LAMA2, TCAP, LMNA, CAV3, DYSF
37rigid spine syndrome29.9DMD, SEPN1
38myocarditis29.9DMD
39dmd-associated dilated cardiomyopathy29.9DMD, SGCA
40familial partial lipodystrophy29.9EMD, LMNA
41oculopharyngeal muscular dystrophy11.1
42fukuyama congenital muscular dystrophy11.0
43ullrich congenital muscular dystrophy10.9
44myotonic dystrophy10.7
45muscular atrophy10.7
46epidermolysis bullosa10.7
47muscular dystrophy, duchenne and becker types10.6
48epidermolysis bullosa simplex10.6
49cerebritis10.6
50lama2-related muscular dystrophy10.6

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



Diseases related to muscular dystrophy

Clinical Features for Muscular Dystrophy

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Drugs & Therapeutics for Muscular Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy:

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

Animal Models for Muscular Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Muscular Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536912.7SEPN1, CAPN3, CAV3, DYSF, DMD, POMT1
2MP:000537612.2FKRP, DMD, DYSF, CAV3, CAPN3, FKTN
3MP:000538512.1CAPN3, CAV3, DMD, POMT1, EMD, DAG1
4MP:000538611.9DYSF, DMD, FKRP, FKTN, EMD, DAG1
5MP:000537811.8FKTN, FKRP, DMD, CAPN3, DAG1, LMNA
6MP:000538411.6FKTN, FKRP, DMD, CAV3, EMD, DAG1
7MP:000287311.3DMD, FKRP, MYOT, DAG1, LMNA, SEPN1
8MP:000539011.0DMD, FKRP, LMNA, SGCG, LAMA2, LARGE

Publications for Muscular Dystrophy

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50PubMed
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Articles related to Muscular Dystrophy:

(show top 50)    (show all 3473)
idTitleAuthorsYear
1
Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers. (23870371)
2013
2
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. (23830518)
2013
3
Knockdown of col22a1 gene in zebrafish induces a muscular dystrophy by disruption of the myotendinous junction. (24131632)
2013
4
Muscle MRI in Becker muscular dystrophy. (22980760)
2012
5
Predicting scores for left ventricular dysfunction in Duchenne muscular dystrophy. (22248373)
2012
6
The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. (20978473)
2011
7
Identification of muscle necrosis in the mdx mouse model of Duchenne muscular dystrophy using three-dimensional optical coherence tomography. (21806274)
2011
8
Discovery and SAR of 2-arylbenzotriazoles and 2-arylindazoles as potential treatments for Duchenne muscular dystrophy. (21741236)
2011
9
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. (20350330)
2010
10
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
11
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. (17634419)
2007
12
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. (17355552)
2007
13
Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder. (16530457)
2006
14
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
15
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. (15580560)
2005
16
Echocardiographic assessment of left ventricular morphology and function in patients with Emery-Dreifuss muscular dystrophy. (15982486)
2005
17
Drastic reduction of sarcalumenin in Dp427 (dystrophin of 427 kDa)-deficient fibres indicates that abnormal calcium handling plays a key role in muscular dystrophy. (14678011)
2004
18
Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus. (14976164)
2004
19
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia. (14985400)
2004
20
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
21
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. (12969556)
2003
22
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. (12944420)
2003
23
Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy. (12875769)
2003
24
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy. (12057196)
2002
25
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. (11726559)
2001
26
GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy. (10680791)
2000
27
Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome. (19078586)
2000
28
Muscular dystrophy in adult and aged anti-NGF transgenic mice resembles an inclusion body myopathy. (10679795)
2000
29
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. (10508505)
1999
30
Statistically significant differences in the number of CD24 positive muscle fibers and satellite cells between sarcoglycanopathy and age-matched Becker muscular dystrophy patients. (10397078)
1999
31
Manifestations of Duchenne and Becker muscular dystrophy among carriers. (10541963)
1999
32
New aspect of the research on limb-girdle muscular dystrophy 2A: a molecular biologic and biochemical approach to pathology. (10639725)
1999
33
Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy]. (10067123)
1999
34
Confirmation of Angelman syndrome in a boy previously reported as having Becker muscular dystrophy and severe mental retardation. (10592081)
1999
35
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
1998
36
Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development. (9521867)
1998
37
Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. (9392019)
1997
38
DNA-fragmentation and expression of apoptosis-related proteins in muscular dystrophies. (9292873)
1997
39
Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. (8745640)
1995
40
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
41
A case of oculopharyngeal muscular dystrophy in a Bulgarian Jew. (8409167)
1993
42
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. (8215002)
1993
43
Facioscapulohumeral muscular dystrophy defect identified. (1363882)
1992
44
Dystrophin in frameshift deletion patients with Becker muscular dystrophy. (1496988)
1992
45
Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. (2033400)
1991
46
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. (3055295)
1988
47
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. (6494904)
1984
48
Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. (6620324)
1983
49
Distal muscular dystrophy in an English family. (5552164)
1971
50
Oculopharyngeal muscular dystrophy treated by inferior constrictor myotomy. (5097831)
1971

Genetic Variations for Muscular Dystrophy

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Expression for genes affiliated with Muscular Dystrophy

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1BioGPS, 15Gene 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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29KEGG, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN
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Compounds for genes affiliated with Muscular Dystrophy

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium44 49 11 2414.8CAV3, DYSF, DMD, POMT1, EMD, DAG1
2creatinine4411.1LAMA2, CAPN3, CAV3, DYSF, DMD, FKRP

GO Terms for genes affiliated with Muscular Dystrophy

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16Gene Ontology
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Cellular components related to Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:04238311.7LAMA2, CAV3, DMD, FKRP, MYOT, DAG1
2dystrophin-associated glycoprotein complexGO:01601011.3CAV3, DMD, FKRP, DAG1, SGCB, SGCA
3Z discGO:03001811.1CAPN3, CAV3, DMD, MYOT, TCAP
4sarcoglycan complexGO:01601210.8SGCA, SGCG, SGCB
5cytoskeletonGO:00585610.8SGCA, SGCG, SGCB
6T-tubuleGO:03031510.7CAPN3, CAV3, DYSF
7membrane raftGO:04512110.7SGCA, DAG1, DMD, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet