Limb-girdle muscular dystrophy, type 2A

Common Name(s)

Limb-girdle muscular dystrophy, type 2A

LGMD2A is an autosomal recessive form of muscular dystrophy primarily affecting 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 (summary by {30:Mercuri et al., 2005}). Genetic Heterogeneity of Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal recessive LGMD is a genetically heterogeneous disorder: see LGMD2B ({253601}) caused by mutation in the dysferlin gene (DYSF; {603009}) on 2p13; LGMD2C ({253700}) caused by mutation in the gamma-sarcoglycan gene (SGCG; {608896}) on 13q12; LGMD2D ({608099}) caused by mutation in the alpha-sarcoglycan gene (SGCA; {600119}) on 17q12; LGMD2E ({604286}) caused by mutation in the beta-sarcoglycan gene (SGCB; {600900}) on 4q12; LGDM2F ({601287}) caused by mutation in the delta-sarcoglycan gene (SGCD; {601411}) on 5q33; LGMD2G ({601954}) caused by mutation in the TCAP gene ({604488}) on 17q12; LGMD2H ({254110}) caused by mutation in the TRIM32 gene ({602290}) on 9q31; LGMD2I ({607155}) caused by mutation in the FKRP gene ({606596}) on 19q13; LGMD2J ({608807}) caused by mutation in the titin gene (TTN; {188840}) on 2q24; LGMD2K ({609308}), caused by mutation in the POMT1 gene ({607423}) on 9q34; LGMD2L ({611307}), caused by mutation in the ANO5 gene ({608662}) on 11p14; LGMD2M ({611588}), caused by mutation in the FKTN gene ({607440}) on 9q31; LGMD2N ({613158}), caused by mutation in the POMT2 gene ({607439}) on 14q24; LGMD2O ({613157}), caused by mutation in the POMGNT1 gene ({606822}) on 1p34; LGMD2Q ({613723}), caused by mutation in the PLEC1 gene ({601282}) on 8q24; LGMD2R ({615325}), caused by mutation in the DES gene ({125660}) on 2q35-q36; and LGM2S ({615356}), caused by mutation in the TRAPPC11 gene on 4q35. For a discussion of autosomal dominant LGMD (LGMD1), see {159000}. {34:Nigro (2003)} provided a review of the molecular bases of autosomal recessive LGMD. {11:Daniele et al. (2007)} provided a review of therapeutic strategies in various forms of LGMD, including ongoing studies in gene therapy.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Limb-girdle muscular dystrophy, type 2A" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I
 

Status: Recruiting

Condition Summary: Becker Muscular Dystrophy; Limb-Girdle Muscular Dystrophy Type 2I

 

Last Updated: 16 Jun 2014

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Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

 

Last Updated: 17 Jun 2014

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