To understand the epidemiology, humanistic and economic burden of disease and unmet medical needs in Spinal Muscular Atrophy (SMA) Type 1, 2 and 3.

SMA is a rare and severe neuromuscular autosomal recessive disorder characterized by degeneration of alpha motor neurons in the spinal cord. Over time, degeneration of neurons leads to symmetrical and progressive muscle wasting, followed by paralysis and an early death.

413 articles were retrieved, of which 37 were included for evidence collation. Estimated incidence of SMA (all types) ranged from 5.1-27.7 per 100,000 live births, with highest incidence rates reported in Europe. Among SMA sub-types, Type 1 SMA was found to be the most common. Worldwide registry-based prevalence of SMA (all types) ranged from 0.01-4.11 per 100,000 persons. Studies evaluating health-related quality of life (HRQoL) in SMA demonstrated substantial deterioration in HRQoL in SMA Type 1, 2 and 3 patients, with an impact on families. Limited cost of illness studies in SMA (all types) estimated annual per capita costs (direct and indirect costs) as high as €70,566 in Europe to $184,647 in United States. Recent disease modifying therapy developments are critical given the substantial unmet medical needs in diagnosis, disease management, and supportive care of SMA patients including a lack of robust treatment guidelines.