MCID: LMB074
MIFTS: 18

Limb-Girdle Muscular Dystrophy Type 1b

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Limb-Girdle Muscular Dystrophy Type 1b

MalaCards integrated aliases for Limb-Girdle Muscular Dystrophy Type 1b:

Name: Limb-Girdle Muscular Dystrophy Type 1b 54
Lgmd1b 54 56
Muscular Dystrophy, Proximal, Type 1b 54

Classifications:



Summaries for Limb-Girdle Muscular Dystrophy Type 1b

NIH Rare Diseases : 54 Limb-girdle muscular dystrophy type 1B (LGMD1B) is one of many types of limb-girdle muscular dystrophy. These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arms, legs, fingers, toes, and facial muscles. Specifically, LGMD1B causes muscle weakness in the lower limbs. The muscle weakness typically affects the muscles closest to the center of the body (proximal muscles) such as the upper legs. The disease is progressive, leading to a loss of muscle strength and bulk over a number of years. Limb-girdle muscular dystrophy type 1B is caused by mutations (changes) to the LMNA gene. The disease is inherited in an autosomal dominant manner. A diagnosis of LGMD1B is suspected in people who have signs and symptoms consistent with the disease, and the diagnosis can be confirmed with laboratory tests. While there are not treatments that can reverse the muscle weakness associated with the disease, supportive treatment can decrease the complications.

MalaCards based summary : Limb-Girdle Muscular Dystrophy Type 1b, also known as lgmd1b, is related to emery-dreifuss muscular dystrophy 2, autosomal dominant and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 1b is LMNA (Lamin A/C). Affiliated tissues include testes.

Related Diseases for Limb-Girdle Muscular Dystrophy Type 1b

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c

Diseases related to Limb-Girdle Muscular Dystrophy Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 2, autosomal dominant 11.9
2 muscular dystrophy 10.6
3 limb-girdle muscular dystrophy 10.6
4 autosomal dominant limb-girdle muscular dystrophy 10.4
5 muscle hypertrophy 10.3
6 emery-dreifuss muscular dystrophy 10.3

Graphical network of the top 20 diseases related to Limb-Girdle Muscular Dystrophy Type 1b:



Diseases related to Limb-Girdle Muscular Dystrophy Type 1b

Symptoms & Phenotypes for Limb-Girdle Muscular Dystrophy Type 1b

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy Type 1b

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy Type 1b

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 1b

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 1b

MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy Type 1b:

42
Testes

Publications for Limb-Girdle Muscular Dystrophy Type 1b

Articles related to Limb-Girdle Muscular Dystrophy Type 1b:

# Title Authors Year
1
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. ( 27220833 )
2016
2
A novel mutation in a large French-Canadian family with LGMD1B. ( 18714801 )
2008
3
Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). ( 17107595 )
2006
4
Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. ( 15832002 )
2005
5
Pathological changes of the myonuclear fibrous lamina and internal nuclear membrane in two cases of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B). ( 14673599 )
2004
6
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B. ( 14569138 )
2003
7
Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. ( 14644157 )
2003
8
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). ( 10814726 )
2000
9
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. ( 9106535 )
1997

Variations for Limb-Girdle Muscular Dystrophy Type 1b

Expression for Limb-Girdle Muscular Dystrophy Type 1b

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy Type 1b.

Pathways for Limb-Girdle Muscular Dystrophy Type 1b

GO Terms for Limb-Girdle Muscular Dystrophy Type 1b

Sources for Limb-Girdle Muscular Dystrophy Type 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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