Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

Alternative Names

  • LGMDR1
  • Muscular Dystrophy, Limb-Girlde, Type 2A
  • LGMD2A
  • Muscular Dystrophy, Limb-Girlde, Type 2
  • LGMD2
  • Muscular Dystrophy, Pelvofemoral Leyden-Moebius Muscular Dystrophy
  • Calpainopathy

Associated Genes

Calpain 3
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

253600

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q15.1

Description

Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. [From OMIM]

 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
253600.1LebanonUnknownNo Muscular dystrophy... NM_000070.3:c.956C>T, NM_000070.3:c.946-1_948delHeterozygousAutosomal, RecessiveJalkh et al. 2019
253600.2.1LebanonFemaleYesNo Elevated serum creatine kinase; Limb-gi... NM_000070.3:c.956C>T, NM_000070.2:c.257C>THeterozygousAutosomal, RecessiveRichard et al. 1997
253600.2.2LebanonMaleYesNo Elevated serum creatine kinase; Limb-gi... NM_000070.3:c.956C>T, NM_000070.2:c.257C>THeterozygousAutosomal, RecessiveRichard et al. 1997 Brother of patient 2...
253600.2.3LebanonMaleYesYes Elevated serum creatine kinase; Limb-gi... NM_000070.2:c.257C>THomozygousAutosomal, RecessiveRichard et al. 1997 cousin of patient 25...
253600.2.4LebanonMaleYesYes Elevated serum creatine kinase; Limb-gi... NM_000070.2:c.257C>THomozygousAutosomal, RecessiveRichard et al. 1997 cousin of patient 25...
253600.2.5LebanonMaleYesNo Elevated serum creatine kinase; Limb-gi... NM_000070.3:c.956C>T, NM_000070.2:c.257C>THeterozygousAutosomal, RecessiveRichard et al. 1997 Second cousin of pat...
253600.3.1LebanonMaleYesYes Limb-girdle muscular dystrophy; Elevate... NM_000070.2:c.717delHomozygousAutosomal, RecessiveRichard et al. 1997
253600.3.2LebanonMaleYesYes Limb-girdle muscular dystrophy; Elevate... NM_000070.2:c.717delHomozygousAutosomal, RecessiveRichard et al. 1997 Brother of patient 2...
253600.3.3LebanonMaleYesYes Limb-girdle muscular dystrophy; Elevate... NM_000070.2:c.717delHomozygousAutosomal, RecessiveRichard et al. 1997 Nephew of patient 25...
253600.3.4LebanonFemaleYesYes Limb-girdle muscular dystrophy; Elevate... NM_000070.2:c.717delHomozygousAutosomal, RecessiveRichard et al. 1997 Niece of patient 253...

Other Reports

Saudi Arabia

Anazi et al. (2016) performed a study to determine the diagnostic yield of genomic tools in a cohort of 337 Intellectual Disability (ID) patients. By using molecular karyotyping, exome sequencing and a multi-gene panel comprised of neurologically associated genes, the authors were able to diagnose 58% of the cases compared to 16% using standard clinical evaluations. In one patient, the analysis helped uncover a homozygous mutation (c.1325G>A, p.Arg442Gln) in the CAPN3 gene, which is associated with pelvofemoral muscular dystrophy. However, the authors noted that the patient’s features of ID and severe hyperlaxity of joints were not typical presentations of this disorder.    

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