Spinal muscular atrophy: recent achievements in epidemiology,  testing and gene therapy

Sarantsetseg T; Erdenetuya D; Yesukhei B; Khandsuren B; Oyungerel B; Bolormaa D; Mandakhnar M; Tuul O; Yundendash D; Nyam-Erdene N; Batchimeg B; Munkhbayar S; Chimedlkham B

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Spinal muscular atrophy: recent achievements in epidemiology, testing and gene therapy

VernacularTitle:Нугас булчингийн хатангирал: тархварзүй, оношилгоо, генийн эмчилгээний талаарх сүүлийн үеийн чиг хандлага
Author: Sarantsetseg T ¹ ; Erdenetuya D ¹ ; Yesukhei B ² ; Khandsuren B ¹ ; Oyungerel B ¹ ; Bolormaa D ¹ ; Mandakhnar M ¹ ; Tuul O ³ ; Yundendash D ² ; Nyam-Erdene N ² ; Batchimeg B ² ; Munkhbayar S ² ; Chimedlkham B ¹ ;
Author Information

1. Department of Neurology, Institute of Medical Sciences
2. Scientific Research Laboratory, Institute of Medical Sciences
3. Department of Neurology, National Center for Maternal and Child Health
Publication Type:Review
Keywords: motor neuron disease; newborn screening; SMN1 gene deletion; gene therapy
From:Mongolian Medical Sciences 2023;205(4):75-83
CountryMongolia
Language:Mongolian
Abstract: Background:Spinal Muscular Atrophy (SMA), an autosomal recessive disorder characterized by lower motor neuron loss, leads to progressive muscle weakness and atrophy. With a neonatal incidence ranging from 1:6000 to 1:11000, individuals affected by SMA face challenges in locomotor function. The advent of newborn screening tests, early diagnostic techniques, and the introduction of gene therapy have, however, shown promise in enabling the acquisition of these motor skills.
Objective:This review article seeks to shed a light on current understandings of the epidemiology, clinical presentations, diagnostic methods, and treatments for spinal muscular atrophy, highlighting cutting edge approaches within the discipline.
Methods:A thorough search was conducted on PubMed, Cochrane, National Institutes of Health, and Web of Science databases for recent research articles concerning SMA’s incidence, prevalence, clinical manifestations, early detection, genetic testing and contemporary gene therapy.
Results:The prevalence of SMA stands at 1-2 cases per 100,000 population, with an incidence of approximately 8 cases per 100,000 live births. Pre-1995 studies exhibited varying prevalence rates due to using non molecular-biological methods, small localized populations, diagnostic errors, and regional characteristics. Diagnosis involving Multiplex ligation-dependent probe amplification (MLPA), quantitative polymerase chain reaction (qPCR), or next-generation sequencing (NGS) analysis to confirm SMN1 and SMN2 gene status aids in identifying carriers and SMA subtypes. Countries implementing newborn screening programs have demonstrated early SMA detection in asymptomatic newborns, contributing to reduced mortality and disability rates. Currently, several types of gene therapy are being used in the treatment of SMA.
Conclusion:The epidemiology of SMA varies between countries and regions. It is fully possible to confirm the disease, identify carriers and subtypes. The inclusion of SMA in newborn early detection programs is crucial for reducing infant mortality and disability, and several gene therapies have received approval from relevant authorities for SMA treatment. In Mongolia, it is possible to introduce tests to confirm the disease and determine carriers and subtypes.
Full text:2025060517462078228MMS-2023-205(4)-75-83.pdf