Long-term stabilization of respiratory conditions in patients with spinal muscular atrophy type 2 by continuous positive airway pressure: a report of two cases.

Spinal muscular atrophy (SMA) type 2 is a motor neuron disease that leads to severe congenital muscle atrophy. The majority of adult patients are at risk of death due to respiratory failure. Here, we report on two patients with SMA type 2 who repeatedly developed bronchitis and pneumonia. The patient in Case 1 was a 48-year-old female lacking exon 7 of the survival motor neuron gene (SMN) 1. The patient in Case 2 was a 37-year-old female lacking exons 7 and 8 in SMN 1 and exon 5 in the neuronal apoptosis inhibitory protein (NAIP) gene. We applied continuous positive airway pressure (CPAP) in both cases because their data on polysomnography showed obstructive sleep apnea (OSA). CPAP treated their respiratory symptoms as well as those due to OSA. Moreover, CPAP stabilized the respiratory condition of Case 1 for seven years and seven months and that of Case 2 for five years and four months. These findings suggest that CPAP alone can achieve long-term improvement in the respiratory condition in patients with SMA type 2.