Sleep and Breathing After Nusinersen Therapy in a Child With Spinal Muscular Atrophy

Area of Science:

• Neurology
• Genetics
• Sleep Medicine

Background:

• Spinal muscular atrophy (SMA) type 3 is an autosomal recessive genetic disorder.
• It involves progressive degeneration of motor neurons, leading to muscle weakness affecting swallowing, breathing, and mobility.

Observation:

• An 11-year-old girl with SMA type 3 presented with severe obstructive sleep apnea (OSA).
• Her OSA was refractory to standard treatments like adenotonsillectomy and noninvasive ventilation.

Findings:

• The patient received nusinersen, a disease-modifying therapy for SMA.
• Nusinersen treatment led to a significant improvement in her OSA within a short period.

Implications:

• This case suggests nusinersen may improve sleep-related upper respiratory muscle function in SMA type 3 patients.
• The findings highlight a potential benefit of nusinersen beyond motor function, impacting respiratory and sleep quality.