Changing respiratory expectations with the new disease trajectory of nusinersen treated spinal muscular atrophy [SMA] type 1

Spinal muscular atrophy [SMA] is the most common genetic cause of childhood mortality, primarily from the most severe form SMA type 1. It is a severe, progressive motor neurone disease, affecting the lower brainstem nuclei and the spinal cord. There is a graded level of severity with SMA children from a practical viewpoint described as “Non-sitters”, “Sitters” and less commonly, “Ambulant” correlating with SMA Type 0/Type 1, Type 2 and Type 3 respectively. Children with SMA Type 0 have a severe neonatal form whilst those with SMA Type 1 develop hypoventilation, pulmonary aspiration, recurrent lower respiratory tract in fections, dysphagia and failure to thrive before usually succumbing to respiratory failure and death before the age of 2 years.

Source: Paediatric Respiratory Reviews - July 12, 2018 Category: Respiratory Medicine Authors: Dominic A. Fitzgerald, Michael Doumit, Francois Abel Tags: Mini-Symposium: Spinal Muscular Atrophy Source Type: research