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Autosomal recessive limb-girdle muscular dystrophy

MedGen UID:: 419194
•Concept ID:: C2931907
•: Disease or Syndrome

Synonym:	Limb-girdle muscular dystrophy autosomal recessive

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	ANO5, FKRP, TRAPPC11, POMGNT1, TRIM32, TCAP, DYSF, TTN, SGCG, SGCA, PLEC, FKTN, DAG1, CAPN3

Monarch Initiative:	MONDO:0015152
OMIM® Phenotypic series:	PS253600
Orphanet:	ORPHA102015

Definition

Autosomal recessive form of limb-girdle muscular dystrophy. [from MONDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLimb-girdle muscular dystrophy
- CROGVAutosomal recessive limb-girdle muscular dystrophy
- CROGVMuscular dystrophy, limb-girdle, autosomal dominant

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the musculature of the limbs
    - Limb-girdle muscle atrophy
      - 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 2E
        Autosomal recessive limb-girdle muscular dystrophy type 2F
        Autosomal recessive limb-girdle muscular dystrophy type 2G
        Autosomal recessive limb-girdle muscular dystrophy type 2I
        Autosomal recessive limb-girdle muscular dystrophy type 2J
        Autosomal recessive limb-girdle muscular dystrophy type 2K
        Autosomal recessive limb-girdle muscular dystrophy type 2L
        Autosomal recessive limb-girdle muscular dystrophy type 2M
        Autosomal recessive limb-girdle muscular dystrophy type 2N
        Autosomal recessive limb-girdle muscular dystrophy type 2O
        Autosomal recessive limb-girdle muscular dystrophy type 2P
        Autosomal recessive limb-girdle muscular dystrophy type 2Q
        Autosomal recessive limb-girdle muscular dystrophy type 2R1
        Autosomal recessive limb-girdle muscular dystrophy type 2T
        Autosomal recessive limb-girdle muscular dystrophy type 2U
        Autosomal recessive limb-girdle muscular dystrophy type 2W
        Autosomal recessive limb-girdle muscular dystrophy type 2X
        Autosomal recessive limb-girdle muscular dystrophy type 2Y
        Autosomal recessive limb-girdle muscular dystrophy type R18
        Limb-girdle muscular dystrophy due to POMK deficiency
        Muscle eye brain disease
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
        Muscular dystrophy, limb-girdle, autosomal recessive 23
        Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
        Muscular dystrophy-dystroglycanopathy type B5
        POMGNT2-related limb-girdle muscular dystrophy R24
        Qualitative or quantitative defects of dysferlin
        Congenital myopathy, Paradas type
        Distal myopathy with anterior tibial onset
        Miyoshi muscular dystrophy 1
        Miyoshi myopathy
        Sarcoglycanopathy
        Qualitative or quantitative defects of beta-sarcoglycan
        Qualitative or quantitative defects of delta-sarcoglycan
        Sarcotubular myopathy

Follow this link to review classifications for Autosomal recessive limb-girdle muscular dystrophy in Orphanet.

Professional guidelines

PubMed

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Cotta A, Carvalho E, da-Cunha-Júnior AL, Paim JF, Navarro MM, Valicek J, Menezes MM, Nunes SV, Xavier Neto R, Takata RI, Vargas AP
Arq Neuropsiquiatr 2014 Sep;72(9):721-34. doi: 10.1590/0004-282x20140110. PMID: 25252238

Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?

Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V
Neuromuscul Disord 2008 Dec;18(12):934-41. Epub 2008 Nov 7 doi: 10.1016/j.nmd.2008.08.003. PMID: 18996010

See all (2)

Recent clinical studies

Etiology

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.

Lorenzoni PJ, Kay CSK, Ducci RD, Fustes OJH, Rodrigues PRDVP, Hrysay NMC, Arndt RC, Werneck LC, Scola RH
Arq Neuropsiquiatr 2023 Oct;81(10):922-933. Epub 2023 Oct 18 doi: 10.1055/s-0043-1772833. PMID: 37852290 Free PMC Article

Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder.

Lewis S, Woroch A, Hatch MK, Lozano R
Genes (Basel) 2023 Aug 5;14(8) doi: 10.3390/genes14081587. PMID: 37628638 Free PMC Article

Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.

Winckler PB, da Silva AMS, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-Costa MC, Carvalho AAS, Feio RHF, Rodrigues CL, Gonçalves MVM, Tenório RB, Mendonça RH, Cotta A, Paim JFO, Costa E Silva C, de Aquino Cruz C, Bená MI, Betancur DFA, El Husny AS, de Souza ICN, Duarte RCB, Reed UC, Chaves MLF, Zanoteli E, França MC Jr, Saute JA
Clin Genet 2019 Oct;96(4):341-353. Epub 2019 Jul 15 doi: 10.1111/cge.13597. PMID: 31268554

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I
Clin Genet 2019 Aug;96(2):126-133. Epub 2019 May 6 doi: 10.1111/cge.13544. PMID: 30919934

The 10 autosomal recessive limb-girdle muscular dystrophies.

Zatz M, de Paula F, Starling A, Vainzof M
Neuromuscul Disord 2003 Sep;13(7-8):532-44. doi: 10.1016/s0960-8966(03)00100-7. PMID: 12921790

See all (40)

Diagnosis

Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies.

Straub V, Bushby K
Neurotherapeutics 2008 Oct;5(4):619-26. doi: 10.1016/j.nurt.2008.08.003. PMID: 19019315 Free PMC Article

Nondystrophinopathic muscular dystrophies including myotonic dystrophy.

Nonaka I, Kobayashi O, Osari S
Semin Pediatr Neurol 1996 Jun;3(2):110-21. doi: 10.1016/s1071-9091(96)80040-4. PMID: 8795845

See all (33)

Therapy

Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.

Audhya IF, Cheung A, Szabo SM, Flint E, Weihl CC, Gooch KL
J Neuromuscul Dis 2022;9(4):477-492. doi: 10.3233/JND-210771. PMID: 35527561 Free PMC Article

Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section.

Allen T, Maguire S
Int J Obstet Anesth 2007 Oct;16(4):370-4. Epub 2007 Jul 20 doi: 10.1016/j.ijoa.2007.03.003. PMID: 17643284

See all (2)

Prognosis

Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review.

Cheung A, Audhya IF, Szabo SM, Friesen M, Weihl CC, Gooch KL
J Clin Neuromuscul Dis 2023 Dec 1;25(2):65-80. doi: 10.1097/CND.0000000000000461. PMID: 37962193

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, V der Hagen M, Schoser B, Lochmüller H, Todorova A, Tournev I
Neuromuscul Disord 2018 Aug;28(8):625-632. Epub 2018 May 17 doi: 10.1016/j.nmd.2018.05.005. PMID: 29935994

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

The 10 autosomal recessive limb-girdle muscular dystrophies.

Zatz M, de Paula F, Starling A, Vainzof M
Neuromuscul Disord 2003 Sep;13(7-8):532-44. doi: 10.1016/s0960-8966(03)00100-7. PMID: 12921790

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes.

Zatz M, Vainzof M, Passos-Bueno MR
Curr Opin Neurol 2000 Oct;13(5):511-7. doi: 10.1097/00019052-200010000-00002. PMID: 11073356

See all (19)

Clinical prediction guides

Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder.

Lewis S, Woroch A, Hatch MK, Lozano R
Genes (Basel) 2023 Aug 5;14(8) doi: 10.3390/genes14081587. PMID: 37628638 Free PMC Article

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.

Khan K, Mehmood S, Liu C, Siddiqui M, Ahmad A, Faiz BY, Chioza BA, Baple EA, Ullah MI, Akram Z, Satti HS, Khan R, Harlalka GV, Jameel M, Akram T, Baig SM, Crosby AH, Hassan MJ, Zhang F, Davis EE, Khan TN
Am J Med Genet A 2022 Feb;188(2):498-508. Epub 2021 Oct 25 doi: 10.1002/ajmg.a.62545. PMID: 34697879

Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy.

Tan D, Ge L, Fan Y, Wei C, Yang H, Liu A, Xiao J, Xiong H, Zhu Y
Neuromuscul Disord 2021 Nov;31(11):1144-1153. Epub 2021 Sep 23 doi: 10.1016/j.nmd.2021.09.006. PMID: 34702656

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.

Xie Z, Hou Y, Yu M, Liu Y, Fan Y, Zhang W, Wang Z, Xiong H, Yuan Y
Orphanet J Rare Dis 2019 Feb 14;14(1):43. doi: 10.1186/s13023-019-1021-9. PMID: 30764848 Free PMC Article

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B
Brain 2007 Feb;130(Pt 2):368-80. Epub 2006 Sep 28 doi: 10.1093/brain/awl270. PMID: 17008331

See all (22)

Recent systematic reviews

Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review.

Cheung A, Audhya IF, Szabo SM, Friesen M, Weihl CC, Gooch KL
J Clin Neuromuscul Dis 2023 Dec 1;25(2):65-80. doi: 10.1097/CND.0000000000000461. PMID: 37962193

Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.

Audhya IF, Cheung A, Szabo SM, Flint E, Weihl CC, Gooch KL
J Neuromuscul Dis 2022;9(4):477-492. doi: 10.3233/JND-210771. PMID: 35527561 Free PMC Article

See all (2)

MedGen

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Autosomal recessive limb-girdle muscular dystrophy

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Table of contents

Genetic Testing Registry

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