As the feasibility of phase 1 clinical trials for prenatal spinal muscular atrophy (SMA) therapies is explored, patient and parent input on prenatal testing and possibly treatment is a valuable tool ...

Spinal muscular atrophy (SMA) can cause weakness, difficulty controlling movements, and difficulty swallowing and breathing. It can be carried in certain genes. Spinal muscular atrophy (SMA) is a ...

Babies are being left needlessly paralysed while Britain drags its feet on testing newborns for a muscle wasting disease. Gene therapies can now prevent newborns with spinal muscular atrophy (SMA) ...

Disease-specific statements are intended to augment the current general American College of Medical Genetics (ACMG) Standards and Guidelines for Clinical Genetic Laboratories. Individual laboratories ...