Pediatrician Resource Pages

  • Respiratory Weakness in SMA Most Pronounced in Childhood, Study Finds

    The post Respiratory Weakness in SMA Most Pronounced in Childhood, Study Finds appeared first on HCP SMA News Today.

  • 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 and identify partial lung collapse in a […]

  • Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds

    The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on […]

  • 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 Atrophy and 4 SMN2 Copies through Newborn Screening […]

  • 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 administration of Zolgensma so that they can optimize […]

  • 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 patients, with the hopes of reversing or slowing the The […]

  • Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy

    At the end of 2016, the U.S. Food and Drug Administration (FDA) approved nusinersen for the treatment of spinal muscular atrophy (SMA).1 Because of the high threshold for FDA approval, an abundance of data on nusinersen and its physiological effects on SMA patients has been collected in recent years. However, given […]

  • Spinal Muscular Atrophy – Pre-Symptomatic Intervention 

    The recently published Standards of Care for spinal muscular atrophy (SMA) promote more proactive and earlier approaches to the management of patients with severe SMA.1 These recommendations are likely based on the promising results of recent clinical trials that suggest that more effective treatments for SMA may be […]

  • Sleep Disorders in Spinal Muscular Atrophy

    Those with spinal muscular atrophy (SMA) often suffer from sleep disorders, but the specific reasons for sleep disturbances vary. For instance, some studies on SMA report sleep disturbances resulting from breathing disorders like sleep apneas, whereas others report problems with the architecture of sleep, which can be […]

  • What is Meaningful Change in Spinal Muscular Atrophy?

    A tool that is commonly used to evaluate motor function in spinal muscular atrophy (SMA) patients is the Hammersmith Functional Motor Scale (HFMSE).1 Given the extensive use of this tool, particularly for clinical trial research that aims to identify and develop therapeutic interventions to help those with […]