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Limb-girdle muscle atrophy

MedGen UID:
330868
Concept ID:
C1842552
Disease or Syndrome
Synonyms: Limb-girdle myopathy; Wasting of limb-girdle muscle
 
HPO: HP:0003797

Definition

Muscular atrophy affecting the muscles of the limb girdle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Limb-girdle muscle atrophy

Conditions with this feature

Autosomal recessive limb-girdle muscular dystrophy type 2D
MedGen UID:
424706
Concept ID:
C2936332
Disease or Syndrome
Autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) affects mainly the proximal muscles and results in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. Cardiomyopathy has rarely been reported (summary by Babameto-Laku et al., 2011). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).

Professional guidelines

PubMed

Mousa NO, Abdellatif A, Fahmy N, El-Fawal H, Osman A
Neuromolecular Med 2023 Dec;25(4):603-615. Epub 2023 Oct 19 doi: 10.1007/s12017-023-08763-0. PMID: 37856057Free PMC Article
Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T
Clin Genet 2016 Sep;90(3):199-210. Epub 2016 Jun 2 doi: 10.1111/cge.12801. PMID: 27197572
Ishpekova B, Milanov I
Electromyogr Clin Neurophysiol 1996 Dec;36(8):469-75. PMID: 8985674

Recent clinical studies

Etiology

Winblad S, Jensen C, Månsson JE, Samuelsson L, Lindberg C
Behav Brain Funct 2010 May 19;6:25. doi: 10.1186/1744-9081-6-25. PMID: 20482818Free PMC Article
Panegyres PK, Mastaglia FL, Kakulas BA
J Neurol Sci 1990 Feb;95(2):201-18. doi: 10.1016/0022-510x(90)90243-g. PMID: 2324771

Clinical prediction guides

Winblad S, Jensen C, Månsson JE, Samuelsson L, Lindberg C
Behav Brain Funct 2010 May 19;6:25. doi: 10.1186/1744-9081-6-25. PMID: 20482818Free PMC Article

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