Carrier Frequency of Spinal Muscular Atrophy in India

Abstract

Title: Carrier Frequency of Spinal Muscular Atrophy in India: A Systematic Review. Objective: This narrative review aims to summarize and analyze existing studies on the carrier frequency of spinal muscular atrophy (SMA) in the Indian population, providing insights into the prevalence of SMA carriers in India. Methods: A comprehensive search of electronic databases was conducted to identify relevant studies published in last past 5 years and only full text articles were included. Data were extracted, analyzed, and synthesized to provide an overview of the carrier frequency of SMA in India. Results: The review identified five studies investigating the carrier frequency of SMA in India. The studies reported carrier frequencies of 5620 live births among the Indian population. Variations in carrier frequencies were observed across different regions of India, with some studies reporting higher frequencies in certain ethnic or geographical groups. Discussion: The review highlights the variability in carrier frequency of SMA across India, indicating a need for further research to assess the genetic diversity within different regions and ethnic groups. The identified studies provide valuable insights into the prevalence of SMA carriers in India, contributing to the understanding of the disease burden and implications for genetic counseling and carrier screening programs. Conclusion: This systematic review reveals that the carrier frequency of spinal muscular atrophy in India varies across different regions and ethnic groups. The findings underscore the importance of continued research and implementation of genetic screening programs to facilitate early detection, counseling, and appropriate management of SMA carriers in India.