Author Archives: Margarida Maia PhD

Gratitude and support from family and healthcare staff can help people with spinal muscular atrophy (SMA) feel more positive, stay motivated, and plan their lives better, a study found. Programs that focus on gratitude could help patients…

Slightly more than half of spinal muscular atrophy (SMA) patients in Australia who gave feedback for a study on how well they thought their treatments worked did not notice any improvement. The researchers said the results suggest a…

Scholar Rock’s apitegromab led to motor function improvements over a year of treatment in young adults and children with spinal muscular atrophy (SMA) type 2 or 3 who could sit independently…

SMA Europe has released a new documentary titled “One Community. Shared Dreams.” as part of an awareness initiative aimed at highlighting the importance of interdisciplinary collaboration among researchers to advance the understanding of spinal muscular atrophy (SMA). The documentary shares the personal stories of people around…

A baby’s respiratory failure and need for mechanical ventilation were traced to spinal muscular atrophy with respiratory distress type 1 (SMARD1), a very rare disease, with one of her two IGHMBP2 gene mutations never before reported. “This case expanded knowledge on the genetic profile of SMARD1 and it…

Spinal muscular atrophy (SMA) may involve changes that occur before birth, during an embryo’s development in the womb, and not just after an infant is born, a study in cell structures suggests. This could mean that combining available disease-modifying treatments with medications that address early changes could help better…

Three years of treatment with apitegromab, a muscle-targeting therapy being developed by Scholar Rock, continues to provide clinical benefit to children and young adults with spinal muscular atrophy (SMA) type 2 or 3 who are not able to walk. That’s according to long-term results from the open-label…

A woman with a long history of muscle weakness was found to have spinal muscular atrophy (SMA) in the her late 40s, a diagnosis that was prompted by her unsteady walk and records that showed her parents were blood relatives, a case report indicates. “There are few cases…

A method that uses laser light to get information from inside the body in a noninvasive way may help monitor how spinal muscular atrophy (SMA) is progressing in real time and how children are responding to therapy, a study suggests. Signals from optoacoustic imaging, which can picture how…

Infants with a genetic diagnosis of spinal muscular atrophy (SMA) type 1 who were treated with Evrysdi (risdiplam) or Spinraza (nusinersen) in addition to Zolgensma (onasemnogene abeparvovec) could sit, but not walk, sooner than those on Zolgensma alone. These are the findings of a small study in…