Get regular updates to your inbox.
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…
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…
So, you received your patient’s medical history form and there it is. Spinal Muscular Atrophy. If you did what I did, you searched and searched the internet and articles for best practices to treat and evaluate this patient. I found out more information on Spinal Muscular Atrophy and the different…
Reldesemtiv improved muscle strength for walking and respiration in a dose-dependent manner in spinal muscular atrophy (SMA) patients, data from a Phase 2 clinical trial show. As a fast muscle activator, reldesemtiv will not treat the underlying causes of SMA — a lack of the SMN protein to nourish muscles…
Taking care of a child with spinal muscular atrophy (SMA) significantly affects several aspects of families’ lives, including finances, career choices, social life, and mental health, according to an Australian study. The study, “Financial, opportunity and psychosocial costs of spinal muscular atrophy: an exploratory qualitative analysis…
Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…
Get regular updates to your inbox.