OBJECTIVES: Spinal Muscular Atrophy (SMA) is a rare and severe neuromuscular autosomal recessive disorder characterized by degeneration of alpha motor neurons in spinal cord. It is the most frequent genetic cause of infant death. The objective of this literature review was to understand the epidemiology, humanistic and economic burden of disease and unmet medical needs in SMA Type 1, 2 and 3.

METHODS: A literature search of Medline^®, Cochrane Library and Embase^® was conducted using disease related search terms and outcomes of interest. A hand search was also undertaken to ensure completeness. Articles published in English worldwide up to 16 April 2018 were included.

RESULTS: CONCLUSIONS: SMA incurs significant healthcare costs and imposes a substantial economic and humanistic burden on SMA patients and their families. Severe burden associated with SMA necessitates concerted efforts towards developing disease modifying therapies and enhanced supportive mechanisms for patients.