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
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 21Apr.2024];63(4):315-0. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2645
Section
Case Report
Received 2021-04-07
Accepted 2023-08-16
Published 2023-08-16