Limb-girdle muscular dystrophy, type 2A

Common Name(s)

Limb-girdle muscular dystrophy, type 2A

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 (summary by {30:Mercuri et al., 2005}). Genetic Heterogeneity of Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal recessive LGMD is genetically heterogeneous. LGMDR2 ({253601}), previously symbolized LGMD2B, is caused by mutation in the dysferlin gene (DYSF; {603009}) on 2p13. LGMDR3 ({608099}), previously symbolized LGMD2D, is caused by mutation in the alpha-sarcoglycan gene (SGCA; {600119}) on 17q21. LGMDR4 ({604286}), previously symbolized LGMD2E, is caused by mutation in the beta-sarcoglycan gene (SGCB; {600900}) on 4q12. LGMDR5 ({253700}), previously symbolized LGMD2C, is caused by mutation in the gamma-sarcoglycan gene (SGCG; {608896}) on 13q12. LGMDR6 ({601287}), previously symbolized LGMD2F, is caused by mutation in the delta-sarcoglycan gene (SGCD; {601411}) on 5q33. LGMDR7 ({601954}), previously symbolized LGMD2G, is caused by mutation in the TCAP gene ({604488}) on 17q12. LGMDR8 ({254110}), previously symbolized LGMD2H, is caused by mutation in the TRIM32 gene ({602290}) on 9q33. LGMDR9 ({607155}), previously symbolized LGMD2I, is caused by mutation in the FKRP gene ({606596}) on 19q13. LGMDR10 ({608807}), previously symbolized LGMD2J, is caused by mutation in the titin gene (TTN; {188840}) on 2q31. LGMDR11 ({609308}), previously symbolized LGMD2K, is caused by mutation in the POMT1 gene ({607423}) on 9q34. LGMDR12 ({611307}), previously symbolized LGMD2L, is caused by mutation in the ANO5 gene ({608662}) on 11p14. LGMDR13 ({611588}), previously symbolized LGMD2M, is caused by mutation in the FKTN gene ({607440}) on 9q31. LGMDR14 ({613158}), previously symbolized LGMD2N, is caused by mutation in the POMT2 gene ({607439}) on 14q24. LGMDR15 ({613157}), previously symbolized LGMD2O, is caused by mutation in the POMGNT1 gene ({606822}) on 1p34. LGMDR16 ({613818}), previously symbolized LGMD2P, is caused by mutation in the DAG1 gene ({128239}) on 3p21. LGMDR17 ({613723}), previously symbolized LGMD2Q, is caused by mutation in the PLEC1 gene ({601282}) on 8q24. LGMDR18 ({615356}), previously symbolized LGMD2S, is caused by mutation in the TRAPPC11 gene ({614138}) on 4q35. LGMDR19 ({615352}), previously symbolized LGMD2T, is caused by mutation in the GMPPB gene ({615320}) on 3p21. LGMDR20 ({616052}), previously symbolized LGMD2U, is caused by mutation in the ISPD gene ({614631}) on 7p21. LGMDR21 ({617232}), previously symbolized LGMD2Z, is caused by mutation in the POGLUT1 gene ({615618}) on 3q13. LGMDR22 ({254090}), also known as Ullrich congenital muscular dystrophy, is caused by mutation in one of the collagen VI genes ({120220}, {120240}, {120250}). LGMDR23 ({618138}) is caused by mutation in the LAMA2 gene ({156225}) on 6q22. LGMDR24 ({618135}) is caused by mutation in the POMGNT2 gene ({614828}) on 3p22. Some forms of autosomal recessive LGMD were reclassified by {44:Straub et al. (2018)}. LGMD2R was reclassified as a form of myofibrillar myopathy (MFM1; {601419}). For forms previously designated LGMD2W, LGMD2X, and LGMD2Y, see {616827}, {616812}, and {617072}, respectively. For a discussion of autosomal dominant LGMD, see LGMDD1 ({603551}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

Last Updated: 22 May 2015

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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.

LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

https://www.lgmd-diagnosis.org

Last Updated: 22 May 2015

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E
 

Status: Recruiting

Condition Summary: Limb-Girdle Muscular Dystrophy Type 2A; Limb-Girdle Muscular Dystrophy, Type 2E

 

Last Updated: 29 Mar 2018

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