Nonrespiratory complications of nusinersen‐treated spinal muscular atrophy type 1 patients

Abstract

BACKGROUND: Emergence of new treatments for spinal muscular atrophy type 1 (SMA1) has led to dramatic improvements in respiratory failure and survival. However, these "treated" patients sustain major problems in other organ systems, which may directly or indirectly affect their respiratory function. We observed three main nonrespiratory manifestations in these patients comprised of facial deformities, feeding problems, and spinal deformities. OBJECTIVE: To investigate these three main sequelae in nusinersen-treated SMA1 patients. METHODS: Data on nusinersen-treated SMA1 patients were prospectively collected throughout a 3-year period, with special focus upon nonrespiratory features of the disease. RESULTS: Twenty nusinersen-treated SMA1 patients were included (eight males, median age 13.5 months, interquartile range: 4-56.2 months), among whom 17 survived after 3 years of follow-up. At follow-up, 15 (88%) patients were diagnosed with facial weakness, hypoplasia, or deformity. All but one patient (94%) were fed invasively by percutaneous endoscopic gastrostomy or nasogastric tube feeding. Four patients (25%) had maintained oral feeding in parallel to gastrostomy feeding and had clinical and radiologic evidence of aspirations. Fifteen (88%) patients were diagnosed with scoliosis, of whom seven had undergone or were scheduled to undergo corrective surgery. CONCLUSIONS: Nusinersen-treated SMA1 patients may sustain facial deformities, feeding problems, and severe scoliosis, all of which affect their respiratory system. Strict surveillance of these complications is essential to avoid further respiratory morbidity.