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...
Pain Management in Spinal Muscular Atrophy

Pain Management in Spinal Muscular Atrophy

Increased pain is significantly associated with lower levels of health, social function, and vitality.1 The results of studies on animal models of neuropathic pain suggest that the abnormal excitability of dorsal horn neurons in spinal muscular atrophy (SMA) may lead...
What is Meaningful Change in Spinal Muscular Atrophy?

Spinal Muscular Atrophy: Scoliosis

Scoliosis is an early orthopedic complication of Spinal Muscular Atrophy (SMA).1 The estimated incidence of scoliosis in SMA types 1 and 2 ranges from 60-90%2 and is approximately 50% in SMA type 3.3 The etiology of scoliosis in SMA is weakness throughout the muscles...
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...