Learn About Limb-Girdle Muscular Dystrophy Type 2A

What is the definition of Limb-Girdle Muscular Dystrophy Type 2A?
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without heart involvement or intellectual disability. The condition is caused by genetic changes in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. LGMD2A is also known as primary calpainopathy. Calpainopathies are diseases caused by genetic changes in the CAPN3 gene and can be autosomal recessive or autosomal dominant. Pelvifemoral limb-girdle muscular dystrophy (also known as Leyden-Mobius LGMD) is the most frequently observed subtype. In these cases, muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle. In most cases, muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle; HyperCKemia is usually observed in children or young individuals. In most cases, those affected do not have symptoms, just high levels of creatine kinase in their blood.
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What are the alternative names for Limb-Girdle Muscular Dystrophy Type 2A?
  • Limb-girdle muscular dystrophy type 2A
  • Muscular dystrophy limb girdle type 2A, Erb type
  • Calpainopathy
  • LGMD2
  • LGMD2A
  • Leyden-Moebius muscular dystrophy
  • Limb-girdle muscular dystrophy type 2
  • Muscular dystrophy, pelvofemoral
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What are the latest Limb-Girdle Muscular Dystrophy Type 2A Clinical Trials?
Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E
Summary: This is an observational study, no drug (marketed or investigational) will be provided as part of the study, and the study procedures will have no impact on the medical care delivered to patients participating in this study. The overall study data collection period is planned to last up to 5 years with assessments occurring at baseline, and every 6 months thereafter for a total period of 3 years.~...
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Limb-Girdle Muscular Dystrophy Type 2A?
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Summary: Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
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