News

As newborn screening for spinal muscular atrophy (SMA) becomes more common, ethical dilemmas will arise about the best treatment strategy for individuals with four copies of the SMN2 gene, a new study contends. The study, “Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn…

With the pandemic occurring around us, there have been many changes for everyone in everyday life. Physical Therapy is an essential medical practice and has stayed open during this pandemic, but there have been changes made to protect us and our patients. We have patients, such as Michael, our patient…

Young children given a single injection of Zolgensma into the spinal canal continue to show gains in motor function and safety, new interim data from the STRONG trial in spinal muscular atrophy (SMA) type 2 patients up to age 5 show. These findings from the open-label Phase 1/2 clinical…

 While the entire world has been brought to a standstill by the COVID-19 pandemic, many people reacting – rationally and irrationally – to the threat of the virus are healthy, young, and seemingly at low-risk for long-term or dire health consequences. Those with SMA, on the other hand,…

In physical therapy, one main focus for us is to ensure patients improve on their balance, especially if the reason for their visit is secondary to an injury from a fall. With patients that spend the majority of their time in a wheelchair, we still want to focus a lot…

This month has seen a surge of publications focused on SMA treatments, with a trend towards optimizing various aspects of nusinersen treatment. Research has also continued in areas related to molecular mechanisms of the disease, clinical manifestations, and management protocols.  Here’s a roundup of the latest in SMA research…

March has kicked off with new SMA publications largely focused on understanding the disease at the cellular and molecular levels. New reviews on progress in SMA treatments have also been released, as has new patient-focused information including new data on carrier frequency. Understanding SMA The clinical spectrum of BICD2 mutations.1…

February wrapped up with a surge of data on SMA, including novel investigations into how combinatorial therapies may provide new advantages to those with the disease. More information on how nusinersen impacts patients has also become available, as have new findings related to newborn screening and the genetics underlying SMA.

Every patient with SMA has different abilities and deficits as well as different ways of transportation. Most are unable to walk independently, therefore require assistance of some sort. Michael, our patient with SMA, has a power chair that he uses to navigate around. He has his controls on the right…

Perhaps the biggest SMA news this month has been the success of Roche’s Sunfish trial, but fundamental research, such as those into the mechanisms of the disease and the implications of certain interventions, continue.  Below is a roundup of the latest news and literature on SMA. Understanding SMA Survival…