Joana Carvalho, PhD, managing science editor —

Diagnostic reference levels indicate that people with spinal muscular atrophy (SMA) do not require higher radiation doses to monitor the administration of Spinraza (nusinersen) in the spinal canal, despite having severe anatomical alterations, a study says. The study, “Radiation exposure of image-guided intrathecal administration of nusinersen to…

A direct relationship may exist between early non-neuromuscular symptoms and the lack of survival motor neuron (SMN) protein directly linked to spinal muscular atrophy (SMA), a study reports. The findings of the study, “Systemic nature of spinal muscular atrophy revealed by studying insurance claims,” were published in…

Patients with spinal-bulbar muscular atrophy (SBMA) are more likely to be affected by metabolic disorders, including insulin resistance and fatty liver disease, which can lead to heart disease and serious liver damage, a study says. The study, “Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in…

Leuprorelin acetate may be a promising therapy to minimize swallowing dysfunction in patients with spinal and bulbar muscular atrophy (SBMA), a study finds. The study, “Efficacy and safety of leuprorelin acetate for subjects with spinal and bulbar muscular atrophy: pooled analyses of two randomized-controlled trials,” was published in the…

Scientists have created a new method to calculate the number of SMN1 gene copies present in individuals and identify possible spinal muscular atrophy (SMA) carriers — those who have only one copy of SMN1 and do not have the disease, but can still pass it to their children. The new…

The Revised Upper Limb Module (RULM) is better than the conventional Upper Limb Module (ULM) at assessing the arms’ function in a wider spectrum of patients with spinal muscular atrophy (SMA), a study found. The findings of the study, “Revised upper limb module for spinal muscular…

A new molecular compound, called LDN-2014, increases and stabilizes the levels of the survival motor neuron (SMN) protein, improving clinical outcomes in mouse models of mild and severe forms of spinal muscular atrophy (SMA), a study reports. The study, “Intraperitoneal delivery of a novel drug‐like compound improves disease severity in severe…

A research team in Korea created an in vitro, or laboratory, model to screen and validate medicines that aim to treat spinal muscular atrophy (SMA) by promoting protein production by the SMN2 gene. The system is based on the use of a special cell line as well as stem cells…

Researchers from the University of Milan developed a new method to evaluate the nutritional status of children with spinal muscular atrophy (SMA). The pilot study, which is part of a larger longitudinal study designed to monitor the growth of children with SMA, contains a procedural manual with…

High-resolution magnetic resonance imaging (MRI) of the spinal cord may be a non-invasive way of monitoring spinal muscular atrophy (SMA) disease progression and responses to treatment, a case report suggests. The technique helped clinicians to diagnose a toddler with SMA type 2 after it revealed signs of ventral nerve atrophy in…