Movatterモバイル変換


[0]ホーム

URL:


Skip to main content

Advertisement

Springer Nature Link
Log in

A 28-Year-Old Woman with Proximal Limb Weakness and Scapular Winging

  • Chapter
  • First Online:

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 theCAPN3 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.

This is a preview of subscription content,log in via an institution to check access.

Access this chapter

Subscribe and save

Springer+ Basic
¥17,985 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Chapter
JPY 3498
Price includes VAT (Japan)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
JPY 7435
Price includes VAT (Japan)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
JPY 9294
Price includes VAT (Japan)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide -see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Similar content being viewed by others

References

  1. 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.

    Article  Google Scholar 

  2. 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.

    Article  Google Scholar 

  3. Liewluck T, Milone M. Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve. 2018;58(2):167–77.

    Article  Google Scholar 

  4. 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.

    Article  Google Scholar 

  5. 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.

    Article CAS  Google Scholar 

  6. 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.

    Article CAS  Google Scholar 

  7. 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.

    Article CAS  Google Scholar 

  8. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol. 2014;33(1):1–12.

    CAS PubMed PubMed Central  Google Scholar 

  9. 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.

    Article CAS  Google Scholar 

  10. 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.

    Article  Google Scholar 

  11. 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.

    Article CAS  Google Scholar 

  12. 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.

    Article CAS  Google Scholar 

  13. Murphy AP, Straub V. The classification, natural history and treatment of the limb girdle muscular dystrophies. J Neuromuscul Dis. 2015;2(s2):S7–19.

    Article  Google Scholar 

  14. Simonds AK. Recent advances in respiratory care for neuromuscular disease. Chest. 2006;130(6):1879–86.

    Article  Google Scholar 

  15. 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.

    Article CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neurology & Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Rahul Abhyankar & Jaya R. Trivedi

  2. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Chunyu Cai

Authors
  1. Rahul Abhyankar
  2. Chunyu Cai
  3. Jaya R. Trivedi

Corresponding author

Correspondence toJaya R. Trivedi.

Editor information

Editors and Affiliations

  1. Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA

    Lan Zhou

  2. Department of Pathology, Neuropathology Section, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Dennis K. Burns

  3. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Chunyu Cai

Rights and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

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

Download citation

Publish with us

Access this chapter

Subscribe and save

Springer+ Basic
¥17,985 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Chapter
JPY 3498
Price includes VAT (Japan)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
JPY 7435
Price includes VAT (Japan)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
JPY 9294
Price includes VAT (Japan)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide -see info

Tax calculation will be finalised at checkout

Purchases are for personal use only


[8]ページ先頭

©2009-2025 Movatter.jp