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...
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: 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...
Spinal Muscular Atrophy: Chewing and Swallowing Problems

Spinal Muscular Atrophy: Chewing and Swallowing Problems

Patients with Spinal Muscular Atrophy (SMA) types 2 and 3 frequently report weakness of the muscles of mastication and bulbar impairment leading to chewing and swallowing issues.1 Patients with SMA type 1 have such significant bulbar weakness that precludes safe...
Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy

Spinal Muscular Atrophy: Pancreatic Dysfunction

Traditionally, the pathology of Spinal Muscular Atrophy (SMA) was thought to be entirely confined to the anterior horn cells of the spinal cord.1 As more is known about the natural history of SMA, other cell types inside and outside the central nervous system appear...
Spinal Muscular Atrophy: Maximizing Quality of Life

Spinal Muscular Atrophy: Maximizing Quality of Life

Children with Spinal Muscular Atrophy (SMA) have complex medical needs which can lead to diminished quality of life.1 Historically, patients diagnosed with SMA and their families report significant stress and a low quality of life.2-4 It is incorrect to assume that...