Purpose Purpose Since 1996, Cure SMA, an organization providing information to individuals diagnosed with spinal muscular atrophy (SMA) and their families has maintained a database of individuals with SMA. To date there are 6,990 affected individuals in this database, with the majority having type I SMA (46.9%), followed by type II (28.6%) and type III (13.5%). In March 2016, Cure SMA launched a survey targeting newly diagnosed individuals and their caregivers. This survey consists of questions on diagnosis, healthcare experiences, maximum motor function achieved, breathing assistance, nourishment and previous knowledge of SMA-related studies. Results Between March 1st, 2016 and October 1st, 2017, 73 surveys have been received. Among the affected individuals, 45.2% had type I, 31.5% had type II, 15.1% had type III, and 8.2% had an unknown or other type of SMA. 19.2% of the surveys completed were for a child that has now passed away. Survey respondents were asked to indicate when they first noticed symptoms and when they received an SMA diagnosis. On average, the delay between onset and diagnosis was 2.3 months for type I, 7.1 months for type II, and 26.0 months for type III. The most common initial diagnoses were low muscle tone or hypotonia for type I (12.1%) and type II (17.4%) and muscular dystrophy for type III (18.2%). The average age at diagnosis was 4.6 months for type I, 15.0 months for type II, and 100.2 months for type III. A pediatric neurologist made 63.0% of the SMA diagnoses. Conclusions The delay among patients with later onset of SMA was longer than those with early onset. The initial diagnosis varied by type of SMA and pediatric neurologists provided the SMA diagnosis in the majority of cases. As more treatments become available it will be important to evaluate the changes in diagnostic delay.
Skip Nav Destination
Section on Critical Care| August 01 2019
Results from the Cure SMA Newly Diagnosed Survey
Lisa Belter, MPH;
Kenneth Hobby, MBA;
Rosangel Cruz, MA;
Jill Jarecki, PhD;
Cynthia C. Jones, PhD;
Pediatrics (2019) 144 (2_MeetingAbstract): 389.
- Views Icon Views
- Share Icon Share
- Search Site
Lisa Belter, Kenneth Hobby, Rosangel Cruz, Jill Jarecki, Cynthia C. Jones, Sandra Reyna-Merida; Results from the Cure SMA Newly Diagnosed Survey. Pediatrics August 2019; 144 (2_MeetingAbstract): 389. 10.1542/peds.144.2MA4.389
Download citation file: