This retrospective study aims to evaluate the clinical profiles, diagnostic pathways, treatment modalities, and referral patterns of children with Spinal Muscular Atrophy (SMA) who have availed services at the Genetic Clinic of the Department of Paediatrics, Seth GS Medical College and KEM Hospital, Mumbai.

The primary objective is to assess the clinical profile and diagnostic practices of SMA at a genetic clinic of a tertiary care public hospital. Secondary objectives focuses on the management strategies opted and barriers faced by SMA patients in timely diagnosis. Data collection will involve demographics, clinical features, diagnostic and treatment details, and patient outcomes. Key metrics include the time lag from symptom onset to diagnosis, factors contributing to delays, and differences in practices across SMA subtypes. Reasons for delayed presentation, including resource limitations, misinterpretation of symptoms, and systemic barriers, will also be examined.

The study is ethically compliant, with data anonymization and confidentiality maintained. A waiver of informed consent will be sought as the study is retrospective and non-interventional. Statistical analyses will involve descriptive and inferential methods, using SPSS software.

The findings are expected to provide insights into the challenges of diagnosing and managing SMA in India. By identifying gaps in early detection and treatment access, the study aims to inform strategies for improving care timeliness, resource allocation, and awareness among healthcare providers and families. Ultimately, the research seeks to enhance the quality of life for children with SMA by promoting better diagnostic and therapeutic practices within the Indian healthcare framework.