A new study shows how does SMA management it look like in Latin America.
Totally 92 patients were recruited:
23 patients with SMA type 1
36 patients SMA type 2
33 SMA type 3
SMA type 1 patients were tracheostomized and fed by gastrostomy (PEG, MIC) in 69.6% of cases
65% of SMA type 2 patients received non-invasive ventilation (NIV) and 37% of the entire cohort underwent scoliosis surgery
The Chilean cohort study to SMA patients shows that timely access to genetic diagnosis, ventilatory support, nutritional support, and scoliosis surgery.
SMA Type 1 patients was underrepresented in this study, probably due to limitations access to early diagnosis and high and early mortality rates.
Nevertheless a surprising result, I find. 🙂