Autosomal recessive limb-girdle muscular dystrophy type 2A: a literature review and clinical cases

Authors

  • L.G. Kyrylova SI “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O.M. Lukyanova of NAMS of Ukraine”, Kyiv, Ukraine
  • O.O. Miroshnykov SI “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O.M. Lukyanova of NAMS of Ukraine”, Kyiv, Ukraine
  • O.O. Yuzva SI “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O.M. Lukyanova of NAMS of Ukraine”, Kyiv, Ukraine
  • L.Yu. Silaeva SI “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O.M. Lukyanova of NAMS of Ukraine”, Kyiv, Ukraine
  • L.I. Tkachuk SI “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O.M. Lukyanova of NAMS of Ukraine”, Kyiv, Ukraine
  • O.V. Beregela SI “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O.M. Lukyanova of NAMS of Ukraine”, Kyiv, Ukraine
  • M.V. Filozop SI “Institute of Pediatrics, Obstetrics and Gynecology named after acad. O.M. Lukyanova of NAMS of Ukraine”, Kyiv, Ukraine

DOI:

https://doi.org/10.22141/2224-0713.18.2.2022.938

Keywords:

limb-girdle dystrophy, CAPN3 gene, Gower’s maneuver, proximal muscle weakness

Abstract

The article presents two clinical cases of two girls with autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) with different ages of onset of symptoms and no family history, which was manifested in the gradual appea-rance of proximal muscle weakness in all four limbs and thinning shoulders, upper limbs, and thighs. Both patients had elevated creatine phosphokinase levels and a c5050delA mutation in the CAPN3 gene. Type 2A is the most common form of limb-girdle dystrophy, accounting for about 30 % of all cases. LGMD2A is caused by mutations in the gene encoding the protein calpain 3 and is characterized by selective atrophy and weakness of the muscles of the proximal extremities and muscles of the upper and lower girdle. The age of onset of muscle weakness varies greatly: from 8 to 15 years, although it can range from 2 to 50 years. The diagnosis can be suspected by clinical examination or muscle biopsy. Blood tests for serum creatine kinase may also show elevated levels, which indicate muscle problems. The diagnosis should be confirmed by detecting a mutation in the calpain 3 gene, which is performed in a sample of deoxyribonucleic acid from a blood test. To date, there is no specific treatment for limb-girdle dystrophy, but the careful treatment of the symptoms can improve a person’s quality of life.

Downloads

Download data is not yet available.

References

Cotta A., Carvalho E., da-Cunha-Júnior A., Paim J., Navarro M., Valicek J. et al. Common recessive limb girdle muscular dystrophies differential diagnosis: why and how? Arquivos de Neuro-Psiquiatria. 2014. 72(9). 721-734. doi: https://doi.org/10.1590/0004-282X20140110.

Albuquerque M. Limb-girdle muscular dystrophy in Brazilian children: clinical, histological and molecular characterization. Arquivos de Neuro-Psiquiatria. 2014. 72(6). 481-481. doi: https://doi.org/10.1590/0004-282x20140037.

Angelini C., Nardetto L., Borsato C., Padoan R., Fanin M., Nascimbeni A. et al. The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). Neurological Research. 2010. 32(1). 41-46. doi: https://doi.org/10.1179/174313209X380847.

Broglio L., Tentorio M., Cotelli M., Mancuso M., Vielmi V., Gregorelli V. et al. Limb-Girdle Muscular Dystrophy-Associated Protein Diseases. The Neurologist. 2010. 16(6). 340-352. doi: https://doi.org/10.1097/NRL.0b013e3181d35b39.

Dincer P. A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families. Journal of Medical Genetics. 2000. 37(5). 361-367. doi: https://doi.org/10.1136/jmg.37.5.361.

Grimm D., Hanisch F., Liu X., Müller-Reible C., Zierz S., Deschauer M. Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. Aktuelle Neurologie. 2006. 33(S 1). doi: https://doi.org/10.1055/s-2006-95302211.

Haberlová J. Evaluation and Treatment of Myopathies. European Journal of Human Genetics. 2015. 23(10). 1433-1433. doi: https://doi.org/10.1038/ejhg.2015.127.

Kaplan J., Hamroun D. The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscular Disorders. 2014. 24(12). 1123-1153. doi: https://doi.org/10.1016/j.nmd.2014.11.001.

Khadilkar S. Limb girdle muscular dystrophies in India. Neurology India. 2015. 63(4). 495. doi: https://doi.org/10.4103/0028-3886.161989.

Liu W., Pajusalu S., Lake N., Zhou G., Ioannidis N., Mittal P. et al. Estimating prevalence for limb-girdle muscular dystrophy basedon public sequencing databases. Genetics in Medicine. 2019. 21(11). 2512-2520. doi: https://doi.org/10.1038/s41436-019-0544-8.

Oliveira Santos M., Ninitas P., Conceição I. Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene. Neuromuscular Disorders. 2018. 28(12). 1003-1005. https://doi.org/10.1016/j.nmd.2018.09.009.

Pegoraro E., Hoffman E.P. Limb-Girdle Muscular Dystrophy Overview. 2000 Jun 8 [Updated 2012 Aug 30]. In: Adam M.P., Ardin-ger H.H., Pagon R.A. et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle, 1993–2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1408/

Stöllberger C., Finsterer J. Cardiopulmonary involvement in limb girdle muscular dystrophy 2A. Muscle & Nerve. 2017. 56(4). E38-E38. doi: https://doi.org/10.1002/mus.25369.

Wang C., Liang W., Minami N., Nishino I., Jong Y. Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan. Pediatrics & Neonatology. 2015. 56(1). 62-65. doi: https://doi.org/10.1016/j.pedneo.2013.01.018.

Genetics Home Reference. Limb-girdle muscular dystrophy. US National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy. 2014 Dec; Accessed: Aug 8, 2019.

Piluso G., Politano L., Aurino S., Fanin M., Ricci E., Ventriglia V.M. et al. Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J. Med. Genet. 2005. 42. 686-693.

Published

2022-07-06

How to Cite

Kyrylova, L., Miroshnykov, O., Yuzva, O., Silaeva, L., Tkachuk, L., Beregela, O., & Filozop, M. (2022). Autosomal recessive limb-girdle muscular dystrophy type 2A: a literature review and clinical cases. INTERNATIONAL NEUROLOGICAL JOURNAL, 18(2), 15–20. https://doi.org/10.22141/2224-0713.18.2.2022.938

Issue

Section

To practicing Neurologist

Most read articles by the same author(s)