MCID: MSC005
MIFTS: 54

Muscular Dystrophy malady

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

Aliases & Classifications for Muscular Dystrophy

About this section

Muscular Dystrophy, Aliases & Descriptions:

Name: Muscular Dystrophy 9 63 41 42 11 32 3 60
 
Muscular Dystrophies 43


Classifications:



External Ids:

Disease Ontology9 DOID:9884
NCIt38 C84910
MeSH33 D009136
ICD9CM27 359.1
ICD1025 G71.0

Summaries for Muscular Dystrophy

About this section


NINDS:42 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 emery-dreifuss 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 A myopathy is characterized by progressive skeletal muscle weakness degeneration.

NIH Rare Diseases:41 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:32 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 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:63 Muscular dystrophy (MD) is a group of muscle diseases that weaken the musculoskeletal system and hamper... more...

Related Diseases for Muscular Dystrophy

About this section

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Type 1a
Muscular Dystrophy - Late Onset Congenital Muscular Dystrophy Due to Lmna Mutation
Congenital Muscular Dystrophy Due to Phosphatidylcholine Biosynthesis Defect

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

(show top 50)    (show all 402)
idRelated DiseaseScoreTop Affiliating Genes
1becker muscular dystrophy32.7DMD
2emery-dreifuss muscular dystrophy32.2LMNA, EMD
3limb-girdle muscular dystrophy32.0DMD, TCAP, DYSF, FKRP, SGCA
4duchenne muscular dystrophy31.8LAMA2, TCAP, DMD, DAG1, SGCA, SGCB
5facioscapulohumeral muscular dystrophy 131.7FRG1
6muscular dystrophy, congenital31.5LARGE
7miyoshi muscular dystrophy 131.5DYSF
8distal muscular dystrophy31.5DYSF, DMD, MYOT
9emery-dreifuss muscular dystrophy 2, ad31.4LMNA, EMD
10muscular dystrophy, rigid spine, 131.3SEPN1, DMD
11muscular dystrophy, limb-girdle, type 2h31.3TCAP, FKRP, DYSF
12dystrophinopathies31.2DMD
13mental retardation31.1POMT1, FKTN, FKRP, DMD
14muscular dystrophy, limb-girdle, type 1a31.1DYSF, TCAP, FKRP, MYOT
15bethlem myopathy31.1COL6A3, DMD
16spinal muscular atrophy31.1DMD, LMNA
17muscular dystrophy-dystroglycanopathy , type a, 431.0FKTN, POMT1, DMD, LARGE, LAMA2
18autosomal dominant limb-girdle muscular dystrophy type 1c31.0FKRP, DYSF
19muscular dystrophy, limb-girdle, type 2e31.0SGCB, DYSF, FKRP, TCAP, SGCA
20muscular dystrophy, limb-girdle, type 2g31.0MYOT, TCAP, DYSF, DMD, FKRP
21polymyositis30.9DMD, DYSF, LAMA2
22dilated cardiomyopathy30.7TCAP, FKRP, LMNA, LAMA2, SGCA, EMD
23autosomal recessive limb-girdle muscular dystrophy type 2i30.7TCAP, FKRP, LAMA2, DYSF
24muscular dystrophy, limb-girdle, type 2b30.7SGCA, SGCB, MYOT, FKRP, TCAP, DYSF
25muscular dystrophy, limb-girdle, type 2f30.7DYSF, DMD, SGCA, SGCG, SGCB, FKRP
26progeria30.6LMNA, EMD
27neuromuscular disease30.6DYSF, LMNA, MYOT, TCAP, LAMA2, EMD
28dmd-associated dilated cardiomyopathy30.5DMD, SGCA
29familial partial lipodystrophy30.5LMNA, EMD
30calpainopathy30.5DMD, SGCA, SGCG, SGCB, LMNA, MYOT
31myopathy congenital30.4DYSF, DMD, SEPN1
32atrial fibrillation30.3LMNA, EMD
33lissencephaly30.3FKTN, FKRP, DAG1, POMT1
34walker-warburg syndrome30.0FKTN, DAG1, DMD, SGCA, LARGE, LAMA2
35muscle eye brain disease29.7FKRP, DAG1, DMD, LARGE, LAMA2, POMT1
36neuropathy29.0DAG1, DMD, SGCA, SGCG, SGCB, EMD
37myopathy28.9DYSF, COL6A3, TCAP, FKRP, FKTN, SEPN1
38oculopharyngeal muscular dystrophy11.2
39ullrich congenital muscular dystrophy10.9
40muscular dystrophy, limb-girdle, type 2c10.7
41epidermolysis bullosa10.7
42congenital muscular dystrophy type 1a10.7
43muscular dystrophy, limb-girdle, type 2d10.7
44epidermolysis bullosa simplex10.6
45dysphagia10.6
46cerebritis10.6
47lama2-related muscular dystrophy10.6
48fukuyama type muscular dystrophy10.6
49muscular dystrophy, limb-girdle, type 1b10.6
50muscular atrophy10.6

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



Diseases related to muscular dystrophy

Symptoms for Muscular Dystrophy

About this section

Drugs & Therapeutics for Muscular Dystrophy

About this section

Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy

Search NIH Clinical Center for Muscular Dystrophy

Genetic Tests for Muscular Dystrophy

About this section

Anatomical Context for Muscular Dystrophy

About this section

MalaCards organs/tissues related to Muscular Dystrophy:

31
Skeletal muscle, Heart, Brain, Testes, Eye, Bone, 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

About this section

MGI Mouse Phenotypes related to Muscular Dystrophy:

35 (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

About this section

Articles related to Muscular Dystrophy:

(show top 50)    (show all 3651)
idTitleAuthorsYear
1
Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial. (25907158)
2015
2
Merosin-deficient congenital muscular dystrophy with cerebral white matter changes: a clue to its diagnosis beyond infancy. (24604798)
2014
3
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. (25307856)
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
Late gadolinium enhanced cardiovascular magnetic resonance in Becker muscular dystrophy. (15310728)
2004
25
Merosin-deficient congenital muscular dystrophy in two siblings. (15591603)
2004
26
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. (12969556)
2003
27
Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology. (12685553)
2003
28
Nonmuscular involvement in merosin-negative congenital muscular dystrophy. (11814732)
2002
29
Carrier detection and prenatal diagnosis in Duchenne/Becker muscular dystrophy. (11418728)
2001
30
Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype. (11248459)
2001
31
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. (10766988)
2000
32
The childhood muscular dystrophies: making order out of chaos. (10711985)
1999
33
Emery-Dreifuss muscular dystrophy. (10711990)
1999
34
No evidence for heterogeneity in oculopharyngeal muscular dystrophy. (9678711)
1998
35
The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy. (9805007)
1998
36
Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. (9392019)
1997
37
Limb girdle muscular dystrophy: a prospective follow-up study of functional impairment. (9121503)
1997
38
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. (8636409)
1996
39
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
40
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. (8595406)
1995
41
Monoclonal antibodies to dystrophin in biopsy diagnosis of Duchenne and Becker progressive muscular dystrophies]. (8020113)
1994
42
Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. (8469343)
1993
43
The cardiomyopathy of Duchenne's muscular dystrophy and the function of dystrophin. (8502196)
1993
44
Carrier detection of Duchenne/Becker muscular dystrophy: computer-assisted direct quantitation of gene amplification products. (1621929)
1992
45
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
46
Adult onset limb-girdle muscular dystrophy with autosomal dominant inheritance. (2740412)
1989
47
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. (2696500)
1989
48
Oculopharyngeal muscular dystrophy in an Irish family. (2759812)
1989
49
An electron microscopical study of the T-system in biopsied muscles from Fukuyama type congenital muscular dystrophy. (6543909)
1984
50
Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. (5637795)
1968

Variations for Muscular Dystrophy

About this section

Expression for genes affiliated with Muscular Dystrophy

About this section
Search GEO for disease gene expression data for Muscular Dystrophy.

Pathways for genes affiliated with Muscular Dystrophy

About this section

Pathways related to Muscular Dystrophy according to GeneCards Suite gene sharing:

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 events36
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 cardiomyopathy36
8.3LMNA, DAG1, DMD, SGCA, SGCG, SGCB

Compounds for genes affiliated with Muscular Dystrophy

About this section
Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
See all sources

Compounds related to Muscular Dystrophy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1creatinine439.0SGCA, LAMA2, LMNA, FKRP, DYSF, DMD
2calcium43 49 24 129.7DYSF, DAG1, DMD, SGCB, EMD, LAMA2

GO Terms for genes affiliated with Muscular Dystrophy

About this section

Cellular components related to Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcoglycan complexGO:00160129.8SGCB, SGCG, SGCA
2membrane raftGO:00451219.5SGCA, DMD, DAG1
3costamereGO:00430349.5DMD, DAG1
4cytoskeletonGO:00058569.0DAG1, DMD, SGCA, SGCG, SGCB
5dystrophin-associated glycoprotein complexGO:00160109.0DAG1, DMD, SGCA, SGCB, FKRP
6sarcolemmaGO:00423837.4DYSF, DAG1, DMD, SGCA, SGCG, SGCB
7integral component of membraneGO:00160217.1DAG1, SGCA, SGCG, EMD, POMT1, FKTN

Biological processes related to Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:000708410.1LMNA, EMD
2cardiac muscle contractionGO:006004810.0TCAP, DMD
3mitotic nuclear envelope disassemblyGO:00070779.9LMNA, EMD
4glycoprotein biosynthetic processGO:00091019.8LARGE, FKRP
5muscle contractionGO:00069369.8MYOT, EMD, SGCA
6myelination in peripheral nervous systemGO:00220119.7DAG1, LAMA2
7muscle filament slidingGO:00300499.7TCAP, DMD
8extracellular matrix organizationGO:00301988.7DAG1, DMD, LAMA2, POMT1, COL6A3
9muscle organ developmentGO:00075178.3COL6A3, DMD, SGCA, SGCG, SGCB, EMD

Molecular functions related to Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:00021629.9DMD, DAG1
2vinculin bindingGO:00171669.7DMD, DAG1
3transferase activityGO:00167409.6FKTN, FKRP
4structural constituent of muscleGO:00083079.3TCAP, MYOT, DMD, DAG1
5actin bindingGO:00037799.3DAG1, DMD, EMD, MYOT
6calcium ion bindingGO:00055099.0DAG1, DMD, SGCA, SEPN1, DYSF
7protein bindingGO:00055157.4DMD, SGCG, EMD, SEPN1, LMNA, MYOT

Products for genes affiliated with Muscular Dystrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Muscular Dystrophy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet