Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

Pediatr Neurol. 2015 Oct;53(4):293-300. doi: 10.1016/j.pediatrneurol.2015.06.002. Epub 2015 Jun 10.


Background: Spinal muscular atrophy is a rare genetic disease with devastating neurodegenerative consequences. Timing of diagnosis is crucial for spinal muscular atrophy because early diagnosis may lead to early supportive care and reduction in patient and caregiver stress. The purpose of this study was to examine the published literature for diagnostic delay in spinal muscular atrophy.

Methods: A systematic literature search was conducted in the PubMed and Web of Science databases for studies published between 2000 and 2014 that listed any type of spinal muscular atrophy and without molecular, mouse, or pathology in the keywords. Mean and/or median age of onset and diagnosis and delay in diagnosis was extracted or calculated. All estimates were weighted by the number of patients and descriptive statistics are reported.

Results: A total of 21 studies were included in the final analysis. The weighted mean (standard deviation) ages of onset were 2.5 (0.6), 8.3 (1.6), and 39.0 (32.6) months for spinal muscular atrophy types I, II, and III, respectively, and the weighted mean (standard deviation) ages of confirmed spinal muscular atrophy genetic diagnosis were 6.3 (2.2), 20.7 (2.6), and 50.3 (12.9) months, respectively, for types I, II, and III. For studies reporting both age of onset and diagnosis, the weighted diagnostic delay was 3.6, 14.3, and 43.6 months for types I, II, and III, respectively.

Conclusions: Diagnostic delay is common in spinal muscular atrophy. The length of delay varied by severity (type) of spinal muscular atrophy. Further studies evaluating this delay and tools such as newborn screening are warranted to end the diagnostic delay in spinal muscular atrophy.

Keywords: SMA type I; SMA type II; SMA type III; diagnosis delay; diagnostic odyssey; spinal muscular atrophy; systematic review.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review
  • Systematic Review

MeSH terms

  • Child, Preschool
  • Delayed Diagnosis
  • Humans
  • Infant
  • Muscular Atrophy, Spinal / diagnosis*