Heart marker troponin-I best tested in each SMA newborn: Study

Blood levels of troponin-I, a marker for heart muscle damage, are best measured before and after gene therapy in each newborn with spinal muscular atrophy (SMA), a new study concluded. Although elevated troponin-I has been associated with SMA gene therapy, levels above the reference values generated from adults…

Revvity launches platform for streamlined newborn screening

Revvity has launched its EONIS Q system for faster and simplified newborn molecular screening of spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID), the company announced. According to Revvity, this easy-to-use platform reduces the complexity and costs for laboratories, so they can expand newborn screening capabilities.

Adjustments add up to more comfort in new wheelchair

Michael, my patient who has spinal muscular atrophy (SMA), has recently transferred into a new wheelchair and was experiencing significant discomfort in his right hip while seated. We performed several different modalities and activities on Michael’s tailbone to increase his comfort. A combination of these adjustments was…