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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: 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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
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

Recent clinical studies

Etiology

Autosomal recessive limb girdle muscular dystrophy-type 5 (LGMDR-5).
Ashokkumar H, Bhatia SU, Azhagar Nambi Santhi V, Kumar R
BMJ Case Rep 2024 May 27;17(5) doi: 10.1136/bcr-2024-260321. PMID: 38802251
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: 37852290Free 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

Diagnosis

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
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
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
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: 19019315Free PMC Article

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: 35527561Free 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

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?
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
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

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: 37628638Free 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: 30764848Free PMC Article
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.
Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR
Am J Hum Genet 1997 Jul;61(1):151-9. doi: 10.1086/513889. PMID: 9245996Free PMC Article

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: 35527561Free PMC Article

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