Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy

Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy

At the end of 2016, the U.S. Food and Drug Administration (FDA) approved nusinersen for the treatment of spinal muscular atrophy (SMA).1 Because of the high threshold for FDA approval, an abundance of data on nusinersen and its physiological effects on SMA patients...
Sleep Disorders in Spinal Muscular Atrophy

Sleep Disorders in Spinal Muscular Atrophy

Those with spinal muscular atrophy (SMA) often suffer from sleep disorders, but the specific reasons for sleep disturbances vary. For instance, some studies on SMA report sleep disturbances resulting from breathing disorders like sleep apneas, whereas others report...
What is Meaningful Change in Spinal Muscular Atrophy?

What is Meaningful Change in Spinal Muscular Atrophy?

A tool that is commonly used to evaluate motor function in spinal muscular atrophy (SMA) patients is the Hammersmith Functional Motor Scale (HFMSE).1 Given the extensive use of this tool, particularly for clinical trial research that aims to identify and develop...
Assistive Devices and Equipment in Spinal Muscular Atrophy: Feeding

Assistive Devices and Equipment in Spinal Muscular Atrophy: Feeding

Feeding is often a challenge in people with spinal muscular atrophy (SMA), particularly in those with more severe forms, and feeding difficulties can lead to malnutrition and suboptimal body composition.1,2 Loss of ability to sit is associated with the need for...
Spinal Muscular Atrophy – Pre-Symptomatic Intervention 

Respiratory Care in Spinal Muscular Atrophy: Intubation and Extubation 

Intubation in spinal muscular atrophy (SMA) can be difficult or impossible,1 but the need for endotracheal intubation in SMA patients is increasing.2 In SMA type 1, respiratory failure can require frequent intubation in children ages three and below.3 As life...