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...
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...
Spinal Muscular Atrophy: Awareness and Attitudes

Spinal Muscular Atrophy: Awareness and Attitudes

There is a paucity of information on awareness of and attitudes towards spinal muscular atrophy (SMA) and medical approaches to the disease.1,2 However, research into what is known about SMA has revealed that the public is largely unfamiliar with SMA, and even...
Respiratory Care in Spinal Muscular Atrophy: Airway Clearance

Respiratory Care in Spinal Muscular Atrophy: Airway Clearance

Weakness in the respiratory system is a common and serious complication of spinal muscular atrophy (SMA),1 and pulmonary disease is the primary cause of morbidity and mortality in SMA type 1 and SMA type 2 patients.2 Muscle atrophy and hypotonia are directly related...
Signs and Symptoms

Signs and Symptoms

One of the pathological hallmarks of spinal muscular atrophy (SMA) is the degeneration of anterior horn cells in the spinal cord and motor nuclei in the lower brainstem.1 Alpha motor neurons are preferentially affected, so the disease is limited to the motor system...