News

Since our last roundup, there has been continued focus in the spinal muscular atrophy (SMA) literature how best to treat the disease. There also continues to be research geared toward understanding the biology of the disease, as well as on SMA management, what it is like to live with the…

[two_third_last] If you are working with a patient with SMA, you will most likely find that they are in their wheelchair full time. This makes sitting balance very important for many reasons. If they have good sitting balance, this will make traveling up and down ramps easier and more…

Much of the most recent research regarding spinal muscular atrophy (SMA) has focused on understanding the mechanisms mediating the disease as well as the clinical value of different pharmaceutical interventions. There have been several reviews on the latter topic, with a continuing emphasis on nusinersen, the first drug approved to…

Zolgensma, a first gene therapy for spinal muscular atrophy — and first for any chronic neurologic disease — is now an approved and potential “one-time” intravenous treatment for pre-symptomatic newborns through 2-year-olds with any type of SMA, the U.S. Food and Drug Administration (FDA) announced today, issuing an historic decision.

For a patient with SMA to be able to function with their maximal amount of independence, it is important to have as much range of motion possible. As with the majority patients with SMA, my current patient with SMA spends most of his time in his wheelchair. Therefore, he…

SMA provides myriad challenges to multiple people on the caregiving team.  As a prosthetist and orthotist, there are a few observations I have made over the years in terms of bracing considerations for SMA.  The first big question relates to whether to brace or not, or if there is…

Diet is one of the key factors for healthy growth and development in children with spinal muscular atrophy (SMA).  Often, the quality of the overall diet may be overlooked in favor of a single nutrient or food that comes with curative claims.  Over the last few years, there…

In Physical Therapy, our goal is to improve independence and return the patient back to within functional limits. With my current patient with SMA, his goal for physical therapy is to improve his core strength and neck strength. I am the first to admit, I was a little frightened…

Spinal muscular atrophy (SMA) is an autosomal recessive, hereditary disease with a reported prevalence of 1 in 11,000 live births.[1]  As the disease affects motor neurons, the clinical manifestations relate to muscular weakness and atrophy.  The specific clinical course varies depending on the patient and the subtype of…

 According to the article “Spinal Muscular Atrophy1,” “with SMA the spared diaphragm, combined with weakened intercostal muscles, results in paradoxical breathing. Also with the involvement of bulbar motor neurons often tongue fasciculation, poor suck and swallow with increasing swallowing and feeding difficulty overtime.” A cause of death could be…