Pulmonologist Resource Pages

  • 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 […]

  • Motor Unit Number Index as a Biomarker for Spinal Muscular Atrophy

    Major challenges in the clinical care of those with spinal muscular atrophy (SMA) are determining patients’ clinical stages, identifying exactly how the disease is progressing, and distinguishing SMA from other, muscular disorders. To help overcome these difficulties, researchers are actively seeking improved […]

  • 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 […]

  • 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 […]

  • Respiratory Care in Spinal Muscular Atrophy: Intubation and Extubation 

    Intubation in spinal muscular atrophy (SMA) can be difficult or impossible,1 but the need for endotracheal intubation in SMA patients is increasing.2 In SMA type 1, respiratory failure can require frequent intubation in children ages three and below.3 As life expectancy in SMA continues to rise, medical treatments […]

  • Respiratory Care: Perioperative Considerations

    Surgery is frequently needed for both diagnostic and treatment purposes in patients with neuromuscular disorders like spinal muscular atrophy (SMA).1 Optimizing perioperative care in these patients requires a multidisciplinary team that can collaborate to anticipate and prevent complications and reduce associated […]

  • Spinal Muscular Atrophy: Awareness and Attitudes

    There is a paucity of information on awareness of and attitudes towards spinal muscular atrophy (SMA) and medical approaches to the disease.1,2 However, research into what is known about SMA has revealed that the public is largely unfamiliar with SMA, and even physicians and other healthcare providers have a limited […]

  • Assistive Devices and Equipment: Oxygenation and Breathing 

    Spinal muscular atrophy (SMA) is associated with serious respiratory system complications,1 and pulmonary disease is the primary cause of morbidity and mortality in both SMA type 1 and SMA type 2 patients.2 Given the frequency and extent of oxygenation and breathing challenges in SMA patients, a number of assistive […]

  • Respiratory Care in Spinal Muscular Atrophy: Airway Clearance

    Weakness in the respiratory system is a common and serious complication of spinal muscular atrophy (SMA),1 and pulmonary disease is the primary cause of morbidity and mortality in SMA type 1 and SMA type 2 patients.2 Muscle atrophy and hypotonia are directly related to the severity of respiratory complications. […]

  • Spinal Muscular Atrophy: Breathing Difficulty

    Spinal Muscular Atrophy (SMA) is a progressive congenital neuromuscular disease that causes weakness that can involve respiratory muscles.1,2 SMA is associated with a loss of respiratory function that correlates with the severity of the disease phenotype.2 Dyspnea is reported by some to be the most common symptom in […]