Orthopedics Resource Pages

  • Researchers Discover Promising New Gene Therapy Approach for Spinal Muscular Atrophy

    A new genetic approach to restore the expression of the gene that causes spinal muscular atrophy (SMA) in patients’ cells holds promise to effectively and permanently treat the disease, researchers suggest. The study, “Seamless genetic conversion of SMN2 to SMN1 via CRISPR/Cpf1 and single-stranded […]

  • 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 patient […]

  • 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 […]

  • 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 SMA,2–5 […]

  • 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 in Spinal Muscular Atrophy: Braces

    Braces are one amongst a number of rehabilitation techniques that are used in those with neuromuscular disorders like spinal muscular atrophy (SMA).1 Their effectiveness is thought to vary depending on the individual case. Children with SMA may have spinal braces as an intervention for scoliosis,2–6 or they may use […]

  • Pain Management in Spinal Muscular Atrophy

    Increased pain is significantly associated with lower levels of health, social function, and vitality.1 The results of studies on animal models of neuropathic pain suggest that the abnormal excitability of dorsal horn neurons in spinal muscular atrophy (SMA) may lead to neuropathic pain.2 However, other studies […]

  • Spinal Muscular Atrophy: Scoliosis

    Scoliosis is an early orthopedic complication of Spinal Muscular Atrophy (SMA).1 The estimated incidence of scoliosis in SMA types 1 and 2 ranges from 60-90%2 and is approximately 50% in SMA type 3.3 The etiology of scoliosis in SMA is weakness throughout the muscles in the thoracic compartment leading to a […]

  • Spinal Muscular Atrophy: Contractures

    Patients with progressive neuromuscular diseases like Spinal Muscular Atrophy (SMA) have extremity weakness that can predispose to contractures, defined as “a lack of full passive range of motion due to joint, muscle, or soft tissue limitations.”1 The etiology of contractures in SMA is multifactorial and includes […]