Management of Respiratory Failure in ARSACS Using Non-Invasive Ventilation: A Case Report

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder primarily affecting the nervous system. Although respiratory failure is not a typical feature of ARSACS, this case report describes the first documented instance of respiratory insufficiency in a 52-year-old male with ARSACS. The patient presented with restrictive lung disease and hypercapnia, suggesting chronic hypoventilation. Non-invasive ventilation (NIV) was initiated to manage his respiratory failure, leading to significant symptomatic improvement. This case highlights the potential for respiratory involvement in ARSACS and effectiveness in managing respiratory complication with NIV. Regular respiratory assessments are critical in managing neuromuscular disorders like ARSACS to prevent further complications and improve quality of life.