MCID: MSC112
MIFTS: 40

Muscular Dystrophy, Limb-Girdle, Type 1b

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 1b 57 13 73
Lgmd1b 57 12 53 59 75 55
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b 12 59 15
Limb-Girdle Muscular Dystrophy Due to Lamin a/c Deficiency 12 59
Limb-Girdle Muscular Dystrophy, Type 1b 29 6
Muscular Dystrophy, Proximal, Type 1b 57 53
Dystrophy, Muscular, Limb-Girdle, Type 1b 40
Muscular Dystrophy, Limb-Girdle Type 1b 12
Limb-Girdle Muscular Dystrophy Type 1b 53
Proximal Muscular Dystrophy Type 1b 12
Muscular Dystrophy Proximal Type 1b 75
Limb-Girdle Muscular Dystrophy 1b 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant limb-girdle muscular dystrophy type 1b
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: Adolescent,Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset before age 20 years
muscle symptoms precede cardiac symptoms
genetic heterogeneity (see lgmd1a for overview)
allelic disorders with overlapping phenotypes include autosomal dominant emery-dreifuss muscular dystrophy , dilated cardiomyopathy type 1a , and congenital muscular dystrophy .


HPO:

32
muscular dystrophy, limb-girdle, type 1b:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Muscular Dystrophy, Limb-Girdle, Type 1b

NIH Rare Diseases : 53 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 : Muscular Dystrophy, Limb-Girdle, Type 1b, also known as lgmd1b, is related to emery-dreifuss muscular dystrophy 2, autosomal dominant and emery-dreifuss muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 1b is LMNA (Lamin A/C), and among its related pathways/superpathways is Initiation of Nuclear Envelope Reformation. Affiliated tissues include testes and skeletal muscle, and related phenotypes are seizures and sudden cardiac death

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 1B: An autosomal dominant degenerative myopathy with age-related atrioventricular cardiac conduction disturbances, dilated cardiomyopathy, and the absence of early contractures. Characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes.

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding lamin A/C (LMNA).

Description from OMIM: 159001

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 1b

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 2, autosomal dominant 30.2 EMD LMNA
2 emery-dreifuss muscular dystrophy 29.6 EMD LMNA
3 autosomal dominant limb-girdle muscular dystrophy 27.8 CAV3 DNAJB6 EMD LMNA TNPO3
4 limb-girdle muscular dystrophy 27.6 CAV3 DNAJB6 HNRNPDL LMNA TNPO3
5 muscular dystrophy 26.8 CAV3 DNAJB6 EMD HNRNPDL LMNA TNPO3
6 emerinopathy 10.3 EMD LMNA
7 cardiomyopathy, dilated, 1h 10.3 EMD LMNA
8 myopathy, proximal, and ophthalmoplegia 10.2 EMD LMNA
9 muscular dystrophy-dystroglycanopathy , type b, 5 10.2 CAV3 LMNA
10 pelger-huet anomaly 10.1 EMD LMNA
11 cardiomyopathy, dilated, 1a 10.1 EMD LMNA
12 familial partial lipodystrophy 10.0 EMD LMNA
13 muscular dystrophy, congenital, lmna-related 10.0 EMD LMNA
14 muscle tissue disease 9.8 CAV3 EMD LMNA
15 congenital fiber-type disproportion 9.8 EMD LMNA
16 muscular dystrophy-dystroglycanopathy , type c, 9 9.6 HNRNPDL TNPO3
17 muscular dystrophy, limb-girdle, type 2w 9.6 HNRNPDL TNPO3
18 muscular dystrophy, limb-girdle, type 2r 9.6 HNRNPDL TNPO3
19 muscular dystrophy-dystroglycanopathy , type c, 14 9.6 HNRNPDL TNPO3
20 muscular dystrophy-dystroglycanopathy , type c, 7 9.6 HNRNPDL TNPO3
21 muscular dystrophy-dystroglycanopathy , type c, 3 9.5 HNRNPDL TNPO3
22 muscular dystrophy-dystroglycanopathy , type c, 1 9.5 HNRNPDL TNPO3
23 atrial standstill 1 9.5 EMD LMNA
24 muscular dystrophy-dystroglycanopathy , type c, 2 9.5 HNRNPDL TNPO3
25 muscular dystrophy, limb-girdle, type 1h 9.1 DNAJB6 HNRNPDL TNPO3
26 autosomal dominant limb-girdle muscular dystrophy type 1g 9.1 DNAJB6 HNRNPDL TNPO3
27 muscular dystrophy, limb-girdle, type 2q 9.1 DNAJB6 HNRNPDL TNPO3
28 myopathy 9.1 CAV3 DNAJB6 EMD LMNA
29 autosomal dominant limb-girdle muscular dystrophy type 1c 8.7 CAV3 DNAJB6 HNRNPDL TNPO3
30 muscular dystrophy, limb-girdle, type 1f 8.7 CAV3 DNAJB6 HNRNPDL TNPO3
31 muscular dystrophy, limb-girdle, type 1e 8.7 CAV3 DNAJB6 HNRNPDL TNPO3

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



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 1b

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sudden cardiac death
dilated cardiomyopathy
bradycardia
atrioventricular conduction disturbances

Laboratory Abnormalities:
increased serum creatine kinase

Muscle Soft Tissue:
shoulder girdle muscle weakness
emg shows myopathic changes
hip girdle muscle weakness (usually presenting symptom)
muscle biopsy shows mild dystrophic changes

Skeletal Limbs:
mild joint contractures with sparing of the elbows


Clinical features from OMIM:

159001

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 1b:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 sudden cardiac death 59 32 frequent (33%) Frequent (79-30%) HP:0001645
3 respiratory insufficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0002093
4 wide nasal bridge 59 32 very rare (1%) Very rare (<4-1%) HP:0000431
5 neonatal hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001319
6 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
7 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
8 difficulty walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0002355
9 midface retrusion 59 32 very rare (1%) Very rare (<4-1%) HP:0011800
10 muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003560
11 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
12 abnormal atrioventricular conduction 59 32 frequent (33%) Frequent (79-30%) HP:0005150
13 syncope 59 32 frequent (33%) Frequent (79-30%) HP:0001279
14 atrial fibrillation 59 32 frequent (33%) Frequent (79-30%) HP:0005110
15 generalized hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001290
16 lipodystrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0009125
17 fatiguable weakness of proximal limb muscles 59 32 hallmark (90%) Very frequent (99-80%) HP:0030200
18 waddling gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002515
19 elbow flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0002987
20 bradycardia 59 32 frequent (33%) Frequent (79-30%) HP:0001662
21 achilles tendon contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001771
22 proximal muscle weakness in upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008997
23 limb-girdle muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003797
24 difficulty running 59 32 frequent (33%) Frequent (79-30%) HP:0009046
25 flexion contracture 32 HP:0001371
26 difficulty climbing stairs 32 HP:0003551
27 pelvic girdle muscle weakness 32 HP:0003749
28 shoulder girdle muscle weakness 32 HP:0003547
29 atrial arrhythmia 32 HP:0001692
30 emg 32 HP:0003458
31 pelvic girdle amyotrophy 32 HP:0008946

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

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 1b

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 1b:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1b 29 LMNA

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 1b

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

41
Testes, Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Type 1b

Articles related to Muscular Dystrophy, Limb-Girdle, 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
Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. ( 15832002 )
2005
3
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B. ( 14569138 )
2003

Variations for Muscular Dystrophy, Limb-Girdle, Type 1b

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 1b:

75
# Symbol AA change Variation ID SNP ID
1 LMNA p.Arg377His VAR_016205 rs61672878
2 LMNA p.Arg377Leu VAR_039777 rs61672878
3 LMNA p.Tyr481His VAR_039783 rs57747780
4 LMNA p.Tyr259Cys VAR_076563

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 1b:

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh37 Chromosome 1, 156106204: 156106204
2 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh38 Chromosome 1, 156136413: 156136413
3 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh37 Chromosome 1, 156105885: 156105885
4 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh38 Chromosome 1, 156136094: 156136094
5 LMNA NM_170707.3(LMNA): c.777T> A (p.Tyr259Ter) single nucleotide variant Likely pathogenic rs58048078 GRCh37 Chromosome 1, 156104733: 156104733
6 LMNA NM_170707.3(LMNA): c.777T> A (p.Tyr259Ter) single nucleotide variant Likely pathogenic rs58048078 GRCh38 Chromosome 1, 156134942: 156134942
7 LMNA NM_170707.3(LMNA): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs56699480 GRCh37 Chromosome 1, 156106808: 156106808
8 LMNA NM_170707.3(LMNA): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs56699480 GRCh38 Chromosome 1, 156137017: 156137017
9 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
10 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
11 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
12 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
13 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh37 Chromosome 1, 156105901: 156105901
14 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh38 Chromosome 1, 156136110: 156136110
15 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh37 Chromosome 1, 156104629: 156104629
16 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh38 Chromosome 1, 156134838: 156134838
17 LMNA NM_170707.3(LMNA): c.1488+1G> A single nucleotide variant Pathogenic rs267607640 GRCh37 Chromosome 1, 156106820: 156106820
18 LMNA NM_170707.3(LMNA): c.1488+1G> A single nucleotide variant Pathogenic rs267607640 GRCh38 Chromosome 1, 156137029: 156137029
19 LMNA NM_170707.3(LMNA): c.1608+5G> C single nucleotide variant Pathogenic rs267607539 GRCh37 Chromosome 1, 156107028: 156107028
20 LMNA NM_170707.3(LMNA): c.1608+5G> C single nucleotide variant Pathogenic rs267607539 GRCh38 Chromosome 1, 156137237: 156137237
21 LMNA NM_170707.3(LMNA): c.624_626delGAA (p.Lys208del) deletion Pathogenic rs267607540 GRCh37 Chromosome 1, 156104304: 156104306
22 LMNA NM_170707.3(LMNA): c.624_626delGAA (p.Lys208del) deletion Pathogenic rs267607540 GRCh38 Chromosome 1, 156134513: 156134515
23 LMNA NM_170707.3(LMNA): c.94_96delAAG (p.Lys32del) deletion Pathogenic rs60872029 GRCh37 Chromosome 1, 156084803: 156084805
24 LMNA NM_170707.3(LMNA): c.94_96delAAG (p.Lys32del) deletion Pathogenic rs60872029 GRCh38 Chromosome 1, 156115012: 156115014
25 LMNA NM_170707.3(LMNA): c.99G> C (p.Glu33Asp) single nucleotide variant Likely pathogenic rs57966821 GRCh37 Chromosome 1, 156084808: 156084808
26 LMNA NM_170707.3(LMNA): c.99G> C (p.Glu33Asp) single nucleotide variant Likely pathogenic rs57966821 GRCh38 Chromosome 1, 156115017: 156115017
27 LMNA NM_170707.3(LMNA): c.1609-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111569862 GRCh37 Chromosome 1, 156107444: 156107444
28 LMNA NM_170707.3(LMNA): c.1609-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111569862 GRCh38 Chromosome 1, 156137653: 156137653
29 LMNA NM_005572.3(LMNA): c.886_887insA (p.Arg296Glnfs) insertion Pathogenic rs797044758 GRCh37 Chromosome 1, 156105053: 156105054
30 LMNA NM_005572.3(LMNA): c.886_887insA (p.Arg296Glnfs) insertion Pathogenic rs797044758 GRCh38 Chromosome 1, 156135262: 156135263
31 LMNA NM_170707.3(LMNA): c.810+1G> C single nucleotide variant Pathogenic rs267607632 GRCh37 Chromosome 1, 156104767: 156104767
32 LMNA NM_170707.3(LMNA): c.810+1G> C single nucleotide variant Pathogenic rs267607632 GRCh38 Chromosome 1, 156134976: 156134976
33 LMNA NM_170707.3(LMNA): c.162_163delGG (p.Asn56Argfs) deletion Pathogenic rs879253932 GRCh37 Chromosome 1, 156084871: 156084872
34 LMNA NM_170707.3(LMNA): c.162_163delGG (p.Asn56Argfs) deletion Pathogenic rs879253932 GRCh38 Chromosome 1, 156115080: 156115081
35 LMNA NM_170707.3(LMNA): c.65_66delCGinsT (p.Ser22Phefs) indel Pathogenic rs886043745 GRCh37 Chromosome 1, 156084774: 156084775
36 LMNA NM_170707.3(LMNA): c.65_66delCGinsT (p.Ser22Phefs) indel Pathogenic rs886043745 GRCh38 Chromosome 1, 156114983: 156114984
37 LMNA NM_170707.3(LMNA): c.1142_1157+1del17 deletion Pathogenic GRCh37 Chromosome 1, 156105897: 156105913
38 LMNA NM_170707.3(LMNA): c.1142_1157+1del17 deletion Pathogenic GRCh38 Chromosome 1, 156136106: 156136122

Expression for Muscular Dystrophy, Limb-Girdle, Type 1b

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

Pathways for Muscular Dystrophy, Limb-Girdle, Type 1b

Pathways related to Muscular Dystrophy, Limb-Girdle, Type 1b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.14 EMD LMNA

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 1b

Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.96 CAV3 DNAJB6
2 nuclear membrane GO:0031965 8.8 EMD LMNA TNPO3

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.26 CAV3 EMD
2 muscle organ development GO:0007517 9.16 CAV3 EMD
3 mitotic nuclear envelope disassembly GO:0007077 8.96 EMD LMNA
4 mitotic nuclear envelope reassembly GO:0007084 8.62 EMD LMNA

Sources for Muscular Dystrophy, Limb-Girdle, Type 1b

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