Abstract
Limb girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive condition characterized by progressive proximal weakness in adolescents and young adults. This condition is caused by mutation in the CAPN3 gene that encodes for calpain-3, a muscle-specific protein that is involved in sarcomere remodeling. Diagnosis is made by genetic testing and can be supplemented by muscle biopsy. Treatment is supportive.
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References
Groen EJ, Charlton R, Barresi R, Anderson LV, Eagle M, Hudson J, et al. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. Brain. 2007;130.(Pt 12:3237–49.
Fichna JP, Macias A, Piechota M, Korostynski M, Potulska-Chromik A, Redowicz MJ, et al. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients. Hum Genomics. 2018;12(1):34.
Liewluck T, Milone M. Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve. 2018;58(2):167–77.
Mah JK, Korngut L, Fiest KM, Dykeman J, Day LJ, Pringsheim T, et al. A systematic review and meta-analysis on the epidemiology of the muscular dystrophies. Can J Neurol Sci. 2016;43(1):163–77.
Fanin M, Angelini C. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: the yield and the pitfalls. Muscle Nerve. 2015;52(2):163–73.
Richard I, Hogrel JY, Stockholm D, Payan CA, Fougerousse F, Calpainopathy Study G, et al. Natural history of LGMD2A for delineating outcome measures in clinical trials. Ann Clin Transl Neurol. 2016;3(4):248–65.
Kramerova I, Kudryashova E, Venkatraman G, Spencer MJ. Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway. Hum Mol Genet. 2005;14(15):2125–34.
Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol. 2014;33(1):1–12.
Duno M, Sveen ML, Schwartz M, Vissing J. cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. Eur J Hum Genet. 2008;16(8):935–40.
Feng X, Luo S, Li J, Yue D, Xi J, Zhu W, et al. Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging. Muscle Nerve. 2018;58:536–41.
Krahn M, Lopez de Munain A, Streichenberger N, Bernard R, Pecheux C, Testard H, et al. CAPN3 mutations in patients with idiopathic eosinophilic myositis. Ann Neurol. 2006;59(6):905–11.
Angelini C, Giaretta L, Marozzo R. An update on diagnostic options and considerations in limb-girdle dystrophies. Expert Rev Neurother. 2018;18(9):693–703.
Murphy AP, Straub V. The classification, natural history and treatment of the limb girdle muscular dystrophies. J Neuromuscul Dis. 2015;2(s2):S7–19.
Simonds AK. Recent advances in respiratory care for neuromuscular disease. Chest. 2006;130(6):1879–86.
Figarella-Branger D, El-Dassouki M, Saenz A, Cobo AM, Malzac P, Tong S, et al. Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation. Neuromuscul Disord. 2002;12(1):4–12.
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Abhyankar, R., Cai, C., Trivedi, J.R. (2020). A 28-Year-Old Woman with Proximal Limb Weakness and Scapular Winging. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_11
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