Muscular Dystrophy, Limb-Girdle, Type 2b malady

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 2b

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Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2b:

Name: Muscular Dystrophy, Limb-Girdle, Type 2b 50 12 66
Lgmd2b 46 23 52 68 48
Limb-Girdle Muscular Dystrophy, Type 2b 33 46
Limb-Girdle Muscular Dystrophy 2b 68 25
Lgmd3 46 68
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 52
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 52
Muscular Dystrophy, Limb-Girdle, Type 3 46
Limb-Girdle Muscular Dystrophy Type 2b 23
Muscular Dystrophy Limb-Girdle Type 3 68


Orphanet epidemiological data:

Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: Adult; Age of death: normal life expectancy


muscular dystrophy, limb-girdle, type 2b:
Inheritance: autosomal recessive inheritance
Onset and clinical course: slow progression


External Ids:

OMIM50 253601
Orphanet52 ORPHA268
ICD10 via Orphanet29 G71.0
MedGen35 C1850889
MeSH37 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2b

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NIH Rare Diseases:46 Limb-girdle muscular dystrophy, type 2b (lgmd2b) is one of many forms of limb-girdle muscular dystrophy, a group of disorders that affect the voluntary muscles of the hips and shoulders. lgmd2b is characterized by early weakness and wasting (atrophy) of the pelvic and shoulder girdle muscles in adolescence or young adulthood. the age of onset typically ranges from 15 to 35 years, and legs are usually affected first. symptoms include the inability to tiptoe and difficulty walking and running. cardiac (heart) and respiratory involvement is uncommon. it is usually slowly progressive, with need of a wheelchair 10 to 20 years after onset. lgmd2b is caused by mutations in the dysf gene and is inherited in an autosomal recessive manner. there is no specific treatment. management is tailored to each person and may include physical therapy and stretching exercises; use of aids for mobility; and surgery as needed for orthopedic complications. last updated: 3/21/2016

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2b, also known as lgmd2b, is related to dysferlinopathy and limb-girdle muscular dystrophy, and has symptoms including elevated serum creatine phosphokinase, emg and difficulty climbing stairs. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2b is DYSF (Dysferlin). Affiliated tissues include skeletal muscle, heart and endothelial.

UniProtKB/Swiss-Prot:68 Limb-girdle muscular dystrophy 2B: An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs.

Description from OMIM:50 253601

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2b

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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 Ic 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 Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophies, Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Limb-Girdle Muscular Dystrophy 2x

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2b via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
2limb-girdle muscular dystrophy10.8
3muscular dystrophy10.8
7miyoshi muscular dystrophy 19.5DYSF, MMD
8myopathy, distal, with anterior tibial onset9.4DYSF, MMD
9muscular dystrophy, limb-girdle, type 2b9.2DYSF, MMD

Graphical network of diseases related to Muscular Dystrophy, Limb-Girdle, Type 2b:

Diseases related to muscular dystrophy, limb-girdle, type 2b

Symptoms for Muscular Dystrophy, Limb-Girdle, Type 2b

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


HPO human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2b:

(show all 9)
id Description Frequency HPO Source Accession
1 elevated serum creatine phosphokinase HP:0003236
2 emg HP:0003458
3 difficulty climbing stairs HP:0003551
4 muscle fiber splitting HP:0003555
5 increased variability in muscle fiber diameter HP:0003557
6 muscular dystrophy HP:0003560
7 proximal muscle weakness HP:0003701
8 increased connective tissue HP:0009025
9 difficulty running HP:0009046

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 2b

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Drugs for Muscular Dystrophy, Limb-Girdle, Type 2b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1DeflazacortPhase 2, Phase 31214484-47-0

Interventional clinical trials:

idNameStatusNCT IDPhase
1Deflazacort in DysferlinopathiesCompletedNCT00527228Phase 2, Phase 3
2The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular DystrophiesActive, not recruitingNCT02579239Phase 1, Phase 2
3rAAVrh74.MHCK7.DYSF.DV for Treatment of DysferlinopathiesRecruitingNCT02710500Phase 1
4Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
5Clinical Outcome Study for DysferlinopathyActive, not recruitingNCT01676077

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2b

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2b

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Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2b:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2b25
2 Limb-Girdle Muscular Dystrophy Type 2b23 DYSF

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2b

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MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 2b:

Skeletal muscle, Heart, Endothelial, Myeloid, B cells

Animal Models for Muscular Dystrophy, Limb-Girdle, Type 2b or affiliated genes

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Publications for Muscular Dystrophy, Limb-Girdle, Type 2b

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Variations for Muscular Dystrophy, Limb-Girdle, Type 2b

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2b:

68 (show all 25)
id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2b:

5 (show all 76)
id Gene Variation Type Significance SNP ID Assembly Location
1DYSFNM_003494.3(DYSF): c.3832C> T (p.Gln1278Ter)single nucleotide variantPathogenicrs727503911GRCh37Chr 2, 71827961: 71827961
2DYSFNM_003494.3(DYSF): c.5266C> T (p.Gln1756Ter)single nucleotide variantPathogenicrs727503912GRCh38Chr 2, 71667441: 71667441
3DYSFNM_003494.3(DYSF): c.5525+1G> Asingle nucleotide variantPathogenicrs727503915GRCh37Chr 2, 71896338: 71896338
4DYSFNM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys)single nucleotide variantPathogenicrs786205084GRCh38Chr 2, 71668842: 71668842
5DYSFNM_003494.3(DYSF): c.1931-2deldeletionPathogenicrs774047700GRCh37Chr 2, 71780935: 71780935
6DYSFNM_003494.3(DYSF): c.1956G> A (p.Trp652Ter)single nucleotide variantPathogenicrs794727343GRCh37Chr 2, 71780962: 71780962
7DYSFNM_003494.3(DYSF): c.3041A> G (p.Tyr1014Cys)single nucleotide variantPathogenicrs756328339GRCh37Chr 2, 71797738: 71797738
8DYSFNM_003494.3(DYSF): c.3230G> A (p.Trp1077Ter)single nucleotide variantPathogenicrs794727534GRCh37Chr 2, 71801383: 71801383
9DYSFNM_003494.3(DYSF): c.3349-2A> Gsingle nucleotide variantPathogenicrs370874727GRCh37Chr 2, 71816721: 71816721
10DYSFNM_003494.3(DYSF): c.265C> T (p.Arg89Ter)single nucleotide variantPathogenicrs794727636GRCh37Chr 2, 71730372: 71730372
11DYSFNM_003494.3(DYSF): c.4434G> A (p.Trp1478Ter)single nucleotide variantPathogenicrs766016391GRCh37Chr 2, 71871118: 71871118
12DYSFNM_003494.3(DYSF): c.790G> T (p.Glu264Ter)single nucleotide variantPathogenicrs794727851GRCh37Chr 2, 71742879: 71742879
13DYSFNM_003494.3(DYSF): c.701G> A (p.Gly234Glu)single nucleotide variantLikely pathogenicrs141497053GRCh37Chr 2, 71742790: 71742790
14DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionPathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
15DYSFNM_003494.3(DYSF): c.2643+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs140108514GRCh37Chr 2, 71795213: 71795213
16DYSFNM_003494.3(DYSF): c.1167_1180+1dupduplicationPathogenicrs863225019GRCh37Chr 2, 71753463: 71753477
17DYSFNM_003494.3(DYSF): c.164dupA (p.Ile57Hisfs)duplicationPathogenicrs863225020GRCh37Chr 2, 71709028: 71709028
18DYSFNM_003494.3(DYSF): c.1834C> T (p.Gln612Ter)single nucleotide variantPathogenicrs746873768GRCh37Chr 2, 71780222: 71780222
19DYSFNM_003494.3(DYSF): c.1852G> C (p.Gly618Arg)single nucleotide variantLikely pathogenicrs201049092GRCh37Chr 2, 71780240: 71780240
20DYSFNM_003494.3(DYSF): c.3112C> T (p.Arg1038Ter)single nucleotide variantPathogenicrs369607332GRCh37Chr 2, 71797809: 71797809
21DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionPathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
22DYSFNM_003494.3(DYSF): c.5077C> T (p.Arg1693Trp)single nucleotide variantLikely pathogenicrs863225021GRCh37Chr 2, 71892311: 71892311
23DYSFNM_003494.3(DYSF): c.2643+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs140108514GRCh37Chr 2, 71795213: 71795213
24DYSFNM_001130978.1(DYSF): c.3892A> G (p.Ile1298Val)single nucleotide variantPathogenicrs121908954GRCh37Chr 2, 71829924: 71829924
25DYSFNM_001130978.1(DYSF): c.6187C> T (p.Arg2063Cys)single nucleotide variantPathogenicrs121908955GRCh37Chr 2, 71909727: 71909727
26DYSFNM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs)indelPathogenicrs786200896GRCh37Chr 2, 71887767: 71887771
27DYSFNM_003494.3(DYSF): c.5039_5057+4dup23duplicationPathogenicrs786205082GRCh38Chr 2, 71664420: 71664442
28DYSFNM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg)single nucleotide variantPathogenicrs121908956GRCh37Chr 2, 71791204: 71791204
29DYSFNM_003494.3(DYSF): c.5057+5G> Asingle nucleotide variantPathogenicrs745891180GRCh38Chr 2, 71664443: 71664443
30DYSFNM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp)indelPathogenicrs121908957GRCh37Chr 2, 71709064: 71709065
31DYSFNM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys)single nucleotide variantPathogenicrs28937581GRCh37Chr 2, 71797430: 71797430
32DYSFNM_001130978.1(DYSF): c.3137G> A (p.Arg1046His)single nucleotide variantPathogenicrs121908958GRCh37Chr 2, 71797834: 71797834
33DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)single nucleotide variantPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
34DYSFNM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr)single nucleotide variantPathogenicrs121908960GRCh37Chr 2, 71780261: 71780261
35DYSFNM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly)single nucleotide variantPathogenicrs121908961GRCh37Chr 2, 71894506: 71894506
36DYSFNM_003494.3(DYSF): c.3443-33A> Gsingle nucleotide variantPathogenicrs786205083GRCh38Chr 2, 71590178: 71590178
37DYSFNM_001130978.1(DYSF): c.895G> A (p.Gly299Arg)single nucleotide variantPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158
38DYSFNM_003494.3(DYSF): c.1285-2A> Gsingle nucleotide variantPathogenicrs786200897GRCh37Chr 2, 71762149: 71762149
39DYSFNM_003494.3(DYSF): c.855+1delGdeletionPathogenicrs786200898GRCh37Chr 2, 71743373: 71743373
40DYSFNM_003494.3(DYSF): c.2779delG (p.Ala927Leufs)deletionPathogenicrs727503909GRCh37Chr 2, 71795437: 71795437
41DYSFNM_003494.3(DYSF): c.1053+1G> Asingle nucleotide variantPathogenicrs398123763GRCh37Chr 2, 71748035: 71748035
42DYSFNM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs)deletionPathogenicrs398123764GRCh37Chr 2, 71708031: 71708032
43DYSFNM_003494.3(DYSF): c.1284+2T> Csingle nucleotide variantPathogenicrs398123765GRCh37Chr 2, 71755533: 71755533
44DYSFNM_003494.3(DYSF): c.1368C> A (p.Cys456Ter)single nucleotide variantPathogenicrs202044973GRCh37Chr 2, 71762412: 71762412
45DYSFNM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs)duplicationPathogenicrs398123767GRCh37Chr 2, 71762436: 71762436
46DYSFNM_003494.3(DYSF): c.1398-1G> Asingle nucleotide variantPathogenicrs398123768GRCh37Chr 2, 71766286: 71766286
47DYSFNM_003494.3(DYSF): c.1398-2A> Gsingle nucleotide variantPathogenicrs398123769GRCh37Chr 2, 71766285: 71766285
48DYSFNM_003494.3(DYSF): c.1481-1G> Asingle nucleotide variantPathogenicrs398123770GRCh37Chr 2, 71776479: 71776479
49DYSFNM_003494.3(DYSF): c.1638+2T> Asingle nucleotide variantPathogenicrs398123771GRCh37Chr 2, 71778288: 71778288
50DYSFNM_003494.3(DYSF): c.1642delG (p.Glu548Lysfs)deletionPathogenicrs398123772GRCh37Chr 2, 71778740: 71778740
51DYSFNM_003494.3(DYSF): c.1663C> T (p.Arg555Trp)single nucleotide variantPathogenicrs377735262GRCh37Chr 2, 71778761: 71778761
52DYSFNM_003494.3(DYSF): c.2311C> T (p.Gln771Ter)single nucleotide variantPathogenicrs398123773GRCh37Chr 2, 71789030: 71789030
53DYSFNM_003494.3(DYSF): c.2643+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs140108514GRCh37Chr 2, 71795213: 71795213
54DYSFNM_003494.3(DYSF): c.2869C> T (p.Gln957Ter)single nucleotide variantPathogenicrs398123776GRCh37Chr 2, 71797008: 71797008
55DYSFNM_003494.3(DYSF): c.2870_2874delAGACC (p.Gln957Profs)deletionPathogenicrs398123777GRCh37Chr 2, 71797009: 71797013
56DYSFNM_003494.3(DYSF): c.3327_3328delGT (p.Phe1110Cysfs)deletionPathogenicrs398123780GRCh37Chr 2, 71801480: 71801481
57DYSFNM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter)indelPathogenicrs398123781GRCh37Chr 2, 71817342: 71817343
58DYSFNM_003494.3(DYSF): c.353delT (p.Val118Alafs)deletionPathogenicrs398123782GRCh37Chr 2, 71738947: 71738947
59DYSFNM_003494.3(DYSF): c.3641delC (p.Pro1214Argfs)deletionPathogenicrs398123783GRCh37Chr 2, 71825814: 71825814
60DYSFNM_003494.3(DYSF): c.393_394delCC (p.Leu132Valfs)deletionPathogenicrs398123784GRCh37Chr 2, 71738987: 71738988
61DYSFNM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs)duplicationPathogenicrs398123786GRCh37Chr 2, 71839803: 71839803
62DYSFNM_003494.3(DYSF): c.4253G> A (p.Gly1418Asp)single nucleotide variantLikely pathogenic, Pathogenicrs398123787GRCh37Chr 2, 71839856: 71839856
63DYSFNM_003494.3(DYSF): c.4756C> T (p.Arg1586Ter)single nucleotide variantPathogenicrs398123789GRCh37Chr 2, 71886125: 71886125
64DYSFNM_003494.3(DYSF): c.4894G> T (p.Glu1632Ter)single nucleotide variantPathogenicrs398123790GRCh37Chr 2, 71891405: 71891405
65DYSFNM_003494.3(DYSF): c.5341-2A> Csingle nucleotide variantPathogenicrs398123792GRCh37Chr 2, 71895882: 71895882
66DYSFNM_003494.3(DYSF): c.5429+1G> Tsingle nucleotide variantPathogenicrs398123793GRCh37Chr 2, 71895973: 71895973
67DYSFNM_003494.3(DYSF): c.5497G> T (p.Glu1833Ter)single nucleotide variantPathogenicrs201592500GRCh37Chr 2, 71896309: 71896309
68DYSFNM_003494.3(DYSF): c.5509G> A (p.Asp1837Asn)single nucleotide variantPathogenicrs398123794GRCh37Chr 2, 71896321: 71896321
69DYSFNM_003494.3(DYSF): c.5644C> T (p.Gln1882Ter)single nucleotide variantPathogenicrs398123795GRCh37Chr 2, 71896853: 71896853
70DYSFNM_003494.3(DYSF): c.5698_5699delAG (p.Ser1900Glnfs)deletionPathogenicrs398123796GRCh37Chr 2, 71901357: 71901358
71DYSFNM_003494.3(DYSF): c.5836_5839delCAGC (p.Gln1946Trpfs)deletionPathogenicrs398123797GRCh37Chr 2, 71906255: 71906258
72DYSFNM_003494.3(DYSF): c.5946+1G> Asingle nucleotide variantPathogenicrs398123798GRCh37Chr 2, 71906366: 71906366
73DYSFNM_003494.3(DYSF): c.5979dupA (p.Glu1994Argfs)duplicationPathogenicrs398123799GRCh37Chr 2, 71908163: 71908163
74DYSFNM_003494.3(DYSF): c.610C> T (p.Arg204Ter)single nucleotide variantPathogenicrs373585652GRCh37Chr 2, 71740998: 71740998
75DYSFNM_003494.3(DYSF): c.663+1G> Csingle nucleotide variantPathogenicrs398123800GRCh37Chr 2, 71741052: 71741052
76DYSFNM_003494.3(DYSF): c.937+1G> Asingle nucleotide variantPathogenicrs201869739GRCh37Chr 2, 71747339: 71747339

Expression for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2b

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LifeMap Discovery
Genes differentially expressed in tissues of Muscular Dystrophy, Limb-Girdle, Type 2b patients vs. healthy controls: 33
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MYH3myosin, heavy chain 3, skeletal muscle, embryonicSkeletal Muscle+4.550.000

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2b.

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2b

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GO Terms for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2b

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Sources for Muscular Dystrophy, Limb-Girdle, Type 2b

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29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet