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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Sources:
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, Liver, Smooth muscle, Spinal cord, T cells, Cortex, Bone marrow, Retina, Endothelial, Monocytes, Colon, Pituitary, Breast, Myeloid, Cerebellum, Thymus, Hypothalamus, 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
Precordial R wave height does not correlate with echocardiographic findings in boys with Duchenne muscular dystrophy. (23510265)
2013
2
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. (23326386)
2013
3
Comparative proteomic profiling of soleus, extensor digitorum longus, flexor digitorum brevis and interosseus muscles from the mdx mouse model of Duchenne muscular dystrophy. (23828267)
2013
4
Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. (23369578)
2013
5
Effects of pain and fatigue on physical functioning and depression in persons with muscular dystrophy. (23021739)
2012
6
Gene therapy for Duchenne muscular dystrophy. (22892952)
2012
7
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. (20848652)
2011
8
Exacerbation of pathology by oxidative stress in respiratory and locomotor muscles with Duchenne muscular dystrophy. (21486793)
2011
9
Coats' disease associated with muscular dystrophy treated with ranibizumab. (20075964)
2010
10
Joseph's wishes: ethical decision-making in Duchenne muscular dystrophy. (20687186)
2010
11
Health-related quality of life in ALS, myasthenia gravis and facioscapulohumeral muscular dystrophy. (20383521)
2010
12
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. (19084400)
2009
13
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3. (19226146)
2009
14
LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy. (18053718)
2008
15
Electromyographic pattern in Duchenne and Becker muscular dystrophy. Part I: Electromyographic pattern in subsequent stages of muscle lesion in Duchenne muscular dystrophy. (18837192)
2008
16
Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain. (17690079)
2007
17
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. (16575835)
2006
18
Facioscapulohumeral muscular dystrophy. (16508966)
2006
19
Duchenne muscular dystrophy: rational basis, state of the art]. (17017293)
2006
20
Expression and distribution of a small-conductance calcium-activated potassium channel (SK3) protein in skeletal muscles from myotonic muscular dystrophy patients and congenital myotonic mice. (12875918)
2003
21
Epiphora as a presenting sign of facioscapulohumeral muscular dystrophy. (12691238)
2003
22
Duchenne muscular dystrophy-rhabdomyosarcoma, ichthyosis vulgaris/acute monoblastic leukemia: association of rare genetic disorders and childhood malignant diseases. (12116087)
2002
23
Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. (11165248)
2001
24
Clinical and molecular genetic spectrum of autosomal dominant Emery- Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. (10939567)
2000
25
Strength and functional performance of patients with limb-girdle muscular dystrophy. (10816991)
2000
26
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). (10814726)
2000
27
The heart in limb girdle muscular dystrophy. (9505924)
1998
28
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene. (9781048)
1998
29
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. (9642272)
1998
30
Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings. (9069486)
1997
31
Genotype-phenotype correlation in Duchenne/Becker muscular dystrophy patients seen at Lucknow. (9029833)
1997
32
Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene. (9004137)
1996
33
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
1996
34
Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy]. (8741343)
1996
35
Is dystrophin always altered in Becker muscular dystrophy patients? (7561956)
1995
36
A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy. (8279470)
1994
37
The muscular dystrophies. (7952855)
1994
38
Dystrophin analysis in the diagnosis of childhood muscular dystrophy: an immunohistochemical study of 75 cases. (8247961)
1993
39
Alteration of atrial natriuretic peptide in progressive muscular dystrophy with congestive heart failure]. (1424336)
1992
40
Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35. (1642240)
1992
41
Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis. (1549142)
1992
42
Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: new entity or variant of Walker-Warburg syndrome? (1867258)
1991
43
Retinal telangiectasis in scapuloperoneal muscular dystrophy. (1882951)
1991
44
Genetic counselling in facioscapulohumeral muscular dystrophy. (1941962)
1991
45
Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy. (3180845)
1988
46
Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. (2890901)
1987
47
Congenital muscular dystrophy with cerebral and ocular malformations (cerebro-oculo-muscular syndrome). (3103478)
1986
48
Electron spin resonance investigations of membrane proteins in erythrocytes in muscle diseases. Duchenne and myotonic muscular dystrophy and congenital myotonia. (197998)
1977
49
Abnormality of the long bones and progressive muscular dystrophy in a family. (13511301)
1958
50
Studies in disorders of muscle. XI. The problem of pentosuria in progressive muscular dystrophy. (13358571)
1956

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