To conduct a review of our institution’s clinical practices and implement a quality improvement initiative to optimize bone health screening in spinal muscular atrophy (SMA) patients.

Poor bone health is a recognized but poorly characterized comorbidity of neuromuscular disorders. Up to 85% of SMA patients have low bone mineral density (BMD), yet measures to improve bone health are limited.

23 patients were included in post-implementation analysis. No patients had previously undergone complete screening comparable to the proposed guideline, which improved to six patients (26%) over the study period. The rate of vitamin D level screening improved from 42% to 91%; patients who had at least one other laboratory investigation to assess for bone turnover improved from 0 to 65%. Vitamin D levels were low in 35% of patients. Two eligible patients had previously undergone DEXA; one additional scan was performed out of 17 eligible patients. All three showed Z-scores indicative of low BMD.

Two patients had previous fractures. Over the study period, six additional patients suffered fractures. Five of these were ambulatory patients with a typical mechanism of injury for childhood fractures.

Low bone mineral density and fractures were common in our SMA patient population, emphasizing the importance of standardized screening protocols.  A significant minority of patients had low vitamin D levels. The majority of fractures occurred in young ambulatory patients, demonstrating the changing natural history of SMA in the era of disease-modifying therapy.