Spinal muscular atrophy with severe scoliosis: a case report

  • Dikahayu Alifia Anugrah Department of Pediatric Health, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Central Java
  • Sunartini Sunartini Department of Pediatric Health, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Central Java
  • Mohammad Juffrie Department of Pediatric Health, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Central Java
DOI: https://doi.org/10.14238/pi63.4.2023.315-20
Keywords: spinal muscular atrophy; scoliosis; lumbosacral orthosis; outcome; management

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that causes general weakness, muscle atrophy, and poor muscle movement.  This condition is due to a homozygous disruption of the survival motor neuron (SMN) 1 survival gene due to deletion, conversion, or mutation.1

References

1. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371:2120-33. DOI: https://doi.org/10.1016/S0140-6736(08)60921-6.
2. Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, et al. Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review. Orphanet J Rare Dis. 2017;12:124. DOI: https://doi.org/10.1186/s13023-017-0671-8.
3. Baioni MTC, Ambiel CR. Spinal muscular atrophy: diagnosis, treatment and future prospects. J Pediatr (Rio J). 2010;86:261-70. DOI: https://doi.org/10.2223/JPED.1988.
4. Monani UR. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron. 2005;48:885-96. DOI: https://doi.org/10.1016/j.neuron.2005.12.001.
5. Akutsu T, Nishio H, Sumino K, Takeshima Y, Tsuneishi S, Wada H, et al. Molecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity. Kobe J Med Sci. 2002;48:25-31. PMID: 11912351.
6. Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51:157-67. DOI: https://doi.org/10.1002/mus.24497.
7. Sproule DM, Hasnain R, Koenigsberger D, Montgomery M, De Vivo DC, Kaufmann P. Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2. J Child Neurol. 2012;27:845-51. DOI: https://doi.org/10.1177/0883073811415680.
Published
2023-08-16
How to Cite
1.
Anugrah D, Sunartini S, Juffrie M. Spinal muscular atrophy with severe scoliosis: a case report. PI [Internet]. 16Aug.2023 [cited 21Dec.2024];63(4):315-0. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2645
Issue
Vol 63 No 4 (2023): July 2023
Section
Case Report

Copyright (c) 2023 Dikahayu Alifia Anugrah

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Received 2021-04-07
Accepted 2023-08-16
Published 2023-08-16