Respiratory Weakness in SMA Most Pronounced in Childhood, Study Finds

Respiratory Weakness in SMA Most Pronounced in Childhood, Study Finds

Lung function in people with earlier-onset forms of spinal muscular atrophy (SMA) tends to decline gradually throughout childhood and stabilizes in early adulthood, according to data from a population-based natural history study. The study, “Natural history of lung...
Lung Ultrasound Reliable Option to Chest X-rays for Monitoring Children

Lung Ultrasound Reliable Option to Chest X-rays for Monitoring Children

Lung ultrasound is a safe and reliable bedside tool to detect atelectasis (partial lung collapse) early in children with neuromuscular diseases, including spinal muscular atrophy (SMA), a study suggests. This radiation-free method could be used to monitor lung health...
Study Addresses Dilemmas Regarding Newborn Screening and SMA Treatment

Study Addresses Dilemmas Regarding Newborn Screening and SMA Treatment

As newborn screening for spinal muscular atrophy (SMA) becomes more common, ethical dilemmas will arise about the best treatment strategy for individuals with four copies of the SMN2 gene, a new study contends. The study, “Infants Diagnosed with Spinal Muscular...
Administering Zolgensma

Administering Zolgensma

Zolgensma, or onasemnogene abeparvovec, is an adeno-associated virus vector-based gene therapy that was approved by the FDA in May 2019. Given the newness of this therapy, it is important that healthcare providers are educated on specific information regarding the...
How Salbutamol May Help Patients with Spinal Muscular Atrophy: New Insights

How Salbutamol May Help Patients with Spinal Muscular Atrophy: New Insights

The vast majority of spinal muscular atrophy (SMA) cases are caused by a mutation in the survival motor neuron 1 (SMN1) gene, which leads to abnormally low levels of SMN1 gene products.1 Many attempts at therapy have focused on how to increase SMN levels in SMA...