News

Researchers are calling for change in prenatal diagnostic procedures in Latvia after the first registered case of a newborn with spinal muscular atrophy (SMA) type 0 was reported in the country. “[It] is crucial to be able to detect this disease prenatally in order to provide the best…

Muscle abnormalities observed with ultrasound imaging correlated with motor function in people with spinal muscular atrophy (SMA) in a recent study. While the findings varied somewhat by muscle group and SMA type, ultrasound data generally indicated SMA patients exhibited muscle atrophy and signs of fat and connective tissue…

Many patients with spinal muscular atrophy (SMA) spend the majority of their time sitting in wheelchairs. Increased periods of sitting can lead to tailbone pain due to increased pressure on those areas. When these areas become stiff and painful, a little mobilization can lead to reduced pain and improved…

Electromyography (EMG)  is a test done with electrodes and/or needles inserted into or onto specific muscles to assess muscle activation at rest and during contraction. For Michael, my patient who has spinal muscular atrophy (SMA), we performed an EMG on different muscle groups to assess resting and activation…

Boosting the production of the growth factor protein NRG1-III improved motor nerve fiber development in the early stages in a mouse model of spinal muscular atrophy (SMA), a study showed. NRG1-III was unable to prevent nerve fibers from degenerating or improve motor function or survival in older mice,…

In adults with spinal muscular atrophy (SMA), treatment with Spinraza (nusinersen) in a clinical trial was tolerated well and led to improvements in arm function and self-rated health. These findings add to data from several studies that have examined the safety and efficacy of Spinraza in older…

Michael, a patient who has spinal muscular atrophy (SMA), has experienced reductions and increases in his lung capacity throughout his life due to his genetic disorder. This is a common occurrence in this population due to the disease’s progression on the muscles responsible for respiration. Just recently, this…

One of the first objectives we wanted to address when Michael, who has spinal muscular atrophy (SMA), began physical therapy in 2017, was swelling in his feet and ankles. There are many ways we have addressed the swelling and edema in his legs, including reducing his salt intake.

The one-time gene therapy Zolgensma (onasemnogene abeparvovec) will now be routinely accessible at low or no cost to presymptomatic infants in England who are genetically predisposed to spinal muscular atrophy (SMA). Per updated recommendations from the country’s National Institute for Health and Care Excellence (NICE), this…

High doses of Evrysdi (risdiplam), an approved daily therapy for spinal muscular atrophy (SMA), affected the development of sperm in rats and monkeys, a review of 14 preclinical safety studies reported. No damage was evident in immature sperm derived from stem cells, and changes affecting sperm ended…