Workshop report: Findings from the 2025 Italian SMAkers Educational Initiative on SMA management in Italy

Newborn screening programs have changed the landscape of spinal muscular atrophy (SMA). The impact on presymptomatic patients is profound, but several challenges remain, such as how to communicate diagnostic results to families, when treatment should be started in screen-positive but presymptomatic patients, and how to manage adults who now survive longer with the disease. A workshop held in Florence in May 2025, as part of the SMAkers Study Group activities, offered clinicians across the Italian SMA Network the chance to discuss these open questions. Over two days, plenary lectures were alternated with working group sessions on communication strategies, presymptomatic management, adult care, and fatigability. Prior to the meeting, a survey collected data on current practice in Italy. Centers broadly agreed on a multidisciplinary, family-centered approach that integrates genetic results, neurophysiology, and clinical findings into treatment planning for newborns, incorporating CMAP in addition to SMN2 copy number and neurofilament light chain, measured by some sites. There was consensus on care of adult patients, including assessments of motor and respiratory functions, bulbar status, fatigability, patient-reported outcomes and psychological health. Despite known survey limitations, these data reflect a coherent Italian model reinforcing the value of shared multidisciplinary care within a structured network.