Joana Fernandes, PhD,  —

Patients with spinal and bulbar muscular atrophy (SBMA) may be at risk of developing respiratory complications due to a decline in the levels of genes responsible for muscle strength, according to a new study. The authors assert that monitoring the breathing decline in these patients may help provide better clinical…

Studies in different countries have shown that doctors recommend different measures for the care of children with type 1 spinal muscular atrophy. A recent study now shows that factors such as the doctors’ knowledge about the disease, their perceived best interest of the child, and regional context all play a role in recommendations and family…

Children with spinal muscular atrophy (SMA) may present symptoms indicative of other genetic disorders, such as Farber disease, according to a case study. Researchers also highlighted the importance of analyzing DNA mutations, in addition to clinical observations, in more accurately diagnosing and treating rare diseases. The study, “Polyarticular Arthritis and…

Researchers have found a promising new drug delivery method for spinal muscular atrophy (SMA), a degenerative disease that affects the motor nerve cells in the spinal cord of children. Although there is a treatment for this disease, the lack of an effective delivery system is an obstacle for its widespread use.