Dr. Reshma Amin, The Hospital for Sick Children and University of Toronto, Toronto, ON

This presentation will provide an overview of respiratory care and the evolving natural history of neuromuscular diseases such as spinal muscular atrophy with the recent approvals of disease-modifying therapies such as Spinraza and the implementation of newborn screening in Ontario. The pathophysiology of the impact of neuromuscular disease on the respiratory system and sleep-disordered breathing will be discussed. Data from recent clinical trials highlighting the impact of disease-modifying therapies on neuromuscular disease will be presented with a focus on the respiratory outcomes. In addition, an updated approach to the traditional respiratory management of individuals with neuromuscular disease will be discussed.

Learning Objectives
At the end of this presentation, attendees will be able to:

  • Understand the impact of neuromuscular disease on the respiratory system and sleep-disordered breathing;
  • Be presented with data from recent clinical trials highlighting the impact of disease-modifying therapies for neuromuscular diseases on respiratory outcomes; and
  • Gain an appreciation for the need of a revised approach to the respiratory management of neuromuscular disease in 2021.

CanMEDs Competencies addressed:
Collaborator, Communicator, Health Advocate, Leader, Medical Expert, Professional, Scholar