Background

Emergence of new treatments for spinal muscular atrophy 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 non-respiratory 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 three-year period, with special focus upon non-respiratory features of the disease.

Results

Twenty nusinersen-treated SMA1 patients were included (8 males, median age 13.5 months, IQR 4-56.2 months), among whom 17 survived after three 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.

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