Vol 34, No 62 (2024): Continuous Publishing
Case report
Published online: 2025-02-12
Prenatal and postnatal diagnostics of spinal muscular atrophy: a case report and overview of therapeutic possibilities.
DOI: 10.5603/cnne.103355
Neurol Dziec 2024;34(62):35-38.
Abstract
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease characterized by progressive muscle weakness and atrophy due to a lack of the SMN (survival motor neuron) protein, caused by mutations in the SMN1 gene. SMA is classified into types 0 through 4, based on the age of symptom onset and the severity of motor function decline. The introduction of screening tests and advances in SMA treatment have significantly improved the prognosis for patients with this condition. Early initiation of treatment is crucial for slowing disease progression and improving patients' quality of life. This study presents a case description of a patient who received gene therapy exceptionally early, thanks to prenatal diagnostics.
Keywords: spinal muscular atrophyprenatal diagnosisOnasemnogene abeparvovec
References
- Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015; 33(4): 831–846.
- Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015; 51(2): 157–167.
- Khaniani SM, Derakhshan SM, Abasalizadeh S. Prenatal diagnosis of spinal muscular atrophy: clinical experience and molecular genetics of SMN gene analysis in 36 cases. J Prenat Med. 2013; 7(3): 32–34.
- Zhang J, Wang Y, Ma D, et al. Carrier screening and prenatal diagnosis for spinal muscular atrophy in 13,069 chinese pregnant women. J Mol Diagn. 2020; 22(6): 817–822.
- Little SE, Janakiraman V, Kaimal A, et al. The cost-effectiveness of prenatal screening for spinal muscular atrophy. Am J Obstet Gynecol. 2010; 202(3): 253.e1–253.e7.
- Kostera-Pruszczyk A, Potulska-Chromik A. Choroby nerwowo-mięśniowe. PZWL, Warszawa 2023.
- Chan SHS, Wong CKH, Wu T, et al. Significant healthcare burden and life cost of spinal muscular atrophy: real-world data. Eur J Health Econ. 2023; 24(8): 1373–1382.
- Załącznik B.102.FM. LECZENIE CHORYCH NA RDZENIOWY ZANIK MIĘŚNI (ICD-10: G12.0, G12.1). https://www.gov.pl/attachment/3622f90d-c6ab-4b9e-90cb-251082a1bfb6.
- Dane z Systemu Monitorowania Programów Terapeutycznych.