MCID: LMB006
MIFTS: 52

Limb-Girdle Muscular Dystrophy malady

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

Aliases & Classifications for Limb-Girdle Muscular Dystrophy

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Limb-Girdle Muscular Dystrophy, Aliases & Descriptions:

Name: Limb-Girdle Muscular Dystrophy 9 19 41 21 11
Limb-Girdle Muscular Dystrophy Autosomal Recessive 41 20 60
Limb Girdle Muscular Dystrophy 9 41 20
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 43 22
Muscular Dystrophy Limb-Girdle 43 22
Erb's Muscular Dystrophy 9 60
Lgmd 19 21
 
Muscular Dystrophies, Limb-Girdle 60
Leyden-Mbius Muscular Dystrophy 9
Myopathic Limb-Girdle Syndrome 21
Lgmd- Autosomal Recessive 41
Limb-Girdle Syndrome 21
Limb Girdle 43


Classifications:



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Disease Ontology9 DOID:11724
MeSH33 D049288
SNOMED-CT55 93153005, 56096001
ICD9CM27 359.1
NCIt38 C84828

Summaries for Limb-Girdle Muscular Dystrophy

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NIH Rare Diseases:41 Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. the conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. onset may occur in childhood, adolescence, young adulthood, or even later. males and females are affected in equal numbers. most cases of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. rarely, autosomal dominant cases have been reported. while there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. there are at least 19 different types of limb-girdle muscular dystrophy. last updated: 11/1/2010

MalaCards based summary: Limb-Girdle Muscular Dystrophy, also known as limb-girdle muscular dystrophy autosomal recessive, is related to muscular dystrophy and becker muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy is DYSF (dysferlin), and among its related pathways are Allograft rejection and Hypertrophic cardiomyopathy (HCM). The compound creatinine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and bone, and related mouse phenotypes are behavior/neurological and cardiovascular system.

Disease Ontology:9 A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.

Genetics Home Reference:21 Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.

Wikipedia:63 Limb-girdle muscular dystrophy (LGMD) or Erb\'s muscular dystrophy is a genetically and clinically... more...

GeneReviews summary for lgmd-overview

Related Diseases for Limb-Girdle Muscular Dystrophy

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 1h Muscular Dystrophy, Limb-Girdle, Type 2e
Limb-Girdle Muscular Dystrophy, Type 1g Muscular Dystrophy, Limb-Girdle, Type 1a
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 2q
Muscular Dystrophy, Limb-Girdle, Type 2h Muscular Dystrophy, Limb-Girdle, Type 2l
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2a
Muscular Dystrophy, Limb-Girdle, Type 2g Muscular Dystrophy, Limb-Girdle, Type 2d
Muscular Dystrophy, Limb-Girdle, Type Ic Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophy Type 1d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

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

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.9TRIM32
2becker muscular dystrophy31.1DYSF, SGCA
3muscular dystrophy, limb-girdle, type 2h30.7TCAP, DYSF, TRIM32
4autosomal recessive limb-girdle muscular dystrophy type 2i30.6TRIM32, DYSF, TCAP
5muscular dystrophy, limb-girdle, type 1a30.5TRIM32, DYSF, TCAP, MYOT
6muscular dystrophy, limb-girdle, type 2g30.5MYOT, TCAP, DYSF, TRIM32
7muscular dystrophy, limb-girdle, type 2e30.4SGCA, SGCB, TCAP, DYSF, TRIM32
8muscular dystrophy, limb-girdle, type 2b30.1SGCA, SGCB, MYOT, TCAP, DYSF, TRIM32
9duchenne muscular dystrophy30.1SGCA, SGCB, TCAP
10muscular dystrophy, limb-girdle, type 2f30.1SGCA, SGCG, SGCB, TCAP, DYSF, TRIM32
11myopathy30.0SGCA, SGCG, SGCB, LMNA, MYOT, TCAP
12dilated cardiomyopathy29.9TCAP, LMNA, SGCA
13neuropathy29.5SGCA, SGCG, SGCB, LMNA, MYOT, DYSF
14calpainopathy29.5SGCA, SGCG, SGCB, LMNA, MYOT, TCAP
15limb-girdle muscular dystrophy, type 1g10.7
16muscular dystrophy, limb-girdle, type 2d10.7
17muscular dystrophy, limb-girdle, type 1b10.7
18muscular dystrophy, limb-girdle, type ic10.7
19muscular dystrophy, limb-girdle, type 2j10.7
20muscular dystrophy, limb-girdle, type 2l10.7
21muscular dystrophy, limb-girdle, type 2c10.6
22epidermolysa bullosa simplex with muscular dystrophy10.6
23muscular dystrophy, limb-girdle, type 2r10.6
24muscular dystrophy-dystroglycanopathy , type c, 110.6
25emery-dreifuss muscular dystrophy10.6
26dysferlinopathy10.6
27sarcoglycanopathies10.6
28limb-girdle muscular dystrophies, autosomal dominant10.6
29autosomal recessive limb-girdle muscular dystrophy type 2q10.6
30autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency10.6
31autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency10.6
32autosomal recessive limb-girdle muscular dystrophy type 2c10.6
33autosomal dominant limb-girdle muscular dystrophy type 1c10.6
34autosomal dominant limb-girdle muscular dystrophy type 1g10.6
35autosomal recessive limb-girdle muscular dystrophy type 2k10.6
36spinal muscular atrophy10.5
37muscular atrophy10.5
38myositis10.5
39muscular dystrophy limb girdle type 2a, erb type10.5
40mental retardation10.5
41limb-girdle muscular dystrophy type 1d10.5
42collagen type vi-related autosomal dominant limb-girdle muscular dystrophy10.5
43autosomal recessive limb-girdle muscular dystrophy type 2j10.5
44autosomal recessive limb-girdle muscular dystrophy type 2p10.5
45autosomal recessive limb-girdle muscular dystrophy type 2m10.5
46autosomal recessive limb-girdle muscular dystrophy type 2l10.5
47autosomal recessive limb-girdle muscular dystrophy type 2o10.5
48autosomal recessive limb-girdle muscular dystrophy type 2n10.5
49autosomal dominant limb-girdle muscular dystrophy type 1h10.5
50autosomal recessive limb-girdle muscular dystrophy type 2t10.5

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



Diseases related to limb-girdle muscular dystrophy

Symptoms for Limb-Girdle Muscular Dystrophy

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Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy

Genetic Tests for Limb-Girdle Muscular Dystrophy

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Genetic tests related to Limb-Girdle Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy20 22
2 Limb-Girdle Muscular Dystrophy Multi-Gene Panels20
3 Limb-Girdle Muscular Dystrophies, Autosomal Recessive20 22 TTN

Anatomical Context for Limb-Girdle Muscular Dystrophy

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MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy:

31
Skeletal muscle, Heart, Bone, Testes, Smooth muscle, Liver, Lung, Myeloid, Monocytes, Pituitary

Animal Models for Limb-Girdle Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.8LMNA, TCAP, DYSF, TRIM32, SGCG
2MP:00053857.5TCAP, SGCA, SGCG, SGCB, LMNA
3MP:00053767.3TRIM32, TCAP, LMNA, SGCG, SGCA, DYSF
4MP:00053696.9TRIM32, TCAP, DYSF, LMNA, SGCB, SGCG

Publications for Limb-Girdle Muscular Dystrophy

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Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50)    (show all 425)
idTitleAuthorsYear
1
Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. (25556389)
2015
2
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. (25724973)
2015
3
Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L. (25149668)
2014
4
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. (24638197)
2014
5
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. (25298746)
2014
6
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
7
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. (23687351)
2013
8
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy. (23677060)
2013
9
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. (23830518)
2013
10
Muscle Atrophy in Limb Girdle Muscular Dystrophy 2a: a Morphometric and Molecular Study. (23414389)
2013
11
Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H. (22505452)
2012
12
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. (20634290)
2010
13
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. (20116073)
2010
14
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. (19820980)
2010
15
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. (20068593)
2010
16
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? (19287313)
2009
17
Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques. (18031465)
2008
18
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. (17897828)
2008
19
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. (18495154)
2008
20
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. (16634037)
2006
21
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. (16832103)
2006
22
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
23
The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]. (15221067)
2004
24
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. (12913210)
2003
25
Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle. (12801918)
2003
26
Recent advances in limb-girdle muscular dystrophy research]. (12235836)
2001
27
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle. (11485017)
2001
28
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain. (11371436)
2001
29
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. (10766988)
2000
30
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. (10655062)
2000
31
Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy. (11382199)
2000
32
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. (10508505)
1999
33
A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences. (10191080)
1999
34
The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy. (9805007)
1998
35
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. (9885023)
1998
36
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. (9570945)
1998
37
Myophosphorylase deficiency and limb-girdle muscular dystrophy in the same pedigree. (9858109)
1998
38
The sarcoglycan complex in limb-girdle muscular dystrophy. (9847993)
1998
39
Limb girdle muscular dystrophy: a prospective follow-up study of functional impairment. (9121503)
1997
40
Limb-girdle muscular dystrophy 2C: clinical aspects. (9027861)
1996
41
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. (9027859)
1996
42
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. (8808603)
1996
43
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (8968749)
1996
44
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. (8841194)
1996
45
Myotonic dystrophy and limb girdle muscular dystrophy in one family. (8086779)
1994
46
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. (1901754)
1991
47
Adult onset limb-girdle muscular dystrophy with autosomal dominant inheritance. (2740412)
1989
48
Becker and limb-girdle muscular dystrophy associated with pituitary dwarfism. (3655848)
1987
49
Lymphocyte capping in limb-girdle muscular dystrophy: patients and carriers in an Amish isolate. (7114089)
1982
50
Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. (5637795)
1968

Variations for Limb-Girdle Muscular Dystrophy

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Expression for genes affiliated with Limb-Girdle Muscular Dystrophy

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Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy.

Pathways for genes affiliated with Limb-Girdle Muscular Dystrophy

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Pathways related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2SGCB, SGCG, SGCA
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
8.6LMNA, SGCB, SGCG, SGCA

Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy

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Compounds related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1creatinine439.1DYSF, LMNA, SGCA

GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:00160109.5SGCA, SGCB
2sarcoglycan complexGO:00160129.2SGCA, SGCG, SGCB
3Z discGO:00300189.1TCAP, MYOT
4cytoskeletonGO:00058568.9SGCA, SGCG, SGCB
5sarcolemmaGO:00423838.4SGCA, SGCG, SGCB, MYOT, DYSF

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.6MYOT, SGCA
2muscle organ developmentGO:00075178.3LMNA, SGCB, SGCG, SGCA

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083078.8TCAP, MYOT
2protein bindingGO:00055157.2TRIM32, DYSF, TCAP, MYOT, LMNA, SGCG

Products for genes affiliated with Limb-Girdle Muscular Dystrophy

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Sources for Limb-Girdle Muscular Dystrophy

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