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Objective
Provide a summary of Spinal Muscular Atrophy (SMA) incidence and prevalence worldwide.
Methods
A systematic review of incidence and prevalence was conducted to identify estimates
from peer-reviewed publications. SMA diagnostic criteria, definition of prevalence
and incidence, geographic location, date of data collection, and population characteristics
were noted. Incidence and prevalence estimates of SMA overall and by type are presented
along with limitations.
Results
The PubMed search identified 27 population-based studies published between 1971 and
2014. Most publications focused on European populations (17) with the remaining in
the Middle East (4), North America (2), Asia (1), South America (1), Africa (1), and
Australia (1). Annual incidence for all types of SMA combined was estimated in 7 studies
and ranged from 5.1 to 16.6 cases per 100,000 live births. By type, annual incidence
per 100 000 live births ranged from 3.5 to 7.1 (with an outlier of 250 in a population
of Egyptian Karaites in Israel) for type I, 1.0 to 5.3 for type II, and 1.5 to 4.6
for type III. Eight studies provided detailed overall prevalence estimates; however,
these estimates varied by the population denominators that were applied. Point prevalence
per 100 000 total population by SMA subtype ranged from 0.1 to 0.15 for type I, 0.57
to 0.67 for type II, and 0.64 to 1.05 for type III.
Conclusion
SMA is a rare disorder, with SMA type I having the highest incidence yet the lowest
prevalence due to its higher mortality rate. Variations in diagnostic definition and
population denominator used limit pooling of estimates across studies. More comprehensive,
methodologically robust, and timely population-based incidence and prevalence measures
are needed.
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Article info
Identification
Copyright
© 2015 European Paediatric Neurology Society. Published by Elsevier Inc. All rights reserved.
