{"title":"Spinal Muscular Atrophy Mortality Despite Novel Medications: Case Reports.","authors":"John R Bach, Nayara Conceição, Miguel R Goncalves","doi":"10.1097/PHM.0000000000002467","DOIUrl":null,"url":null,"abstract":"<p><strong>Abstract: </strong>Despite new effective medications, patients with spinal muscular atrophy types 1-3 can continue to have inadequate cough flows to prevent episodes of acute respiratory failure. Ventilator unweanable intubated patients are thought to require tracheostomy tubes. As a result, potentially beneficial medications may be discontinued and patients die despite receiving these medications. Three cases are presented of medically treated, physically strengthening children, with spinal muscular atrophy type 1. All three subsequently died or underwent tracheotomy. However, there is no evidence of extubation attempts to noninvasive ventilatory support settings or optimal mechanical insufflation-exsufflation despite this option being described to be over 98% successful for extubating unweanable medically untreated children with spinal muscular atrophy 1.</p>","PeriodicalId":7850,"journal":{"name":"American Journal of Physical Medicine & Rehabilitation","volume":" ","pages":"e98-e101"},"PeriodicalIF":2.2000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Physical Medicine & Rehabilitation","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/PHM.0000000000002467","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/3/25 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"REHABILITATION","Score":null,"Total":0}
引用次数: 0
Abstract
Abstract: Despite new effective medications, patients with spinal muscular atrophy types 1-3 can continue to have inadequate cough flows to prevent episodes of acute respiratory failure. Ventilator unweanable intubated patients are thought to require tracheostomy tubes. As a result, potentially beneficial medications may be discontinued and patients die despite receiving these medications. Three cases are presented of medically treated, physically strengthening children, with spinal muscular atrophy type 1. All three subsequently died or underwent tracheotomy. However, there is no evidence of extubation attempts to noninvasive ventilatory support settings or optimal mechanical insufflation-exsufflation despite this option being described to be over 98% successful for extubating unweanable medically untreated children with spinal muscular atrophy 1.
期刊介绍：
American Journal of Physical Medicine & Rehabilitation focuses on the practice, research and educational aspects of physical medicine and rehabilitation. Monthly issues keep physiatrists up-to-date on the optimal functional restoration of patients with disabilities, physical treatment of neuromuscular impairments, the development of new rehabilitative technologies, and the use of electrodiagnostic studies. The Journal publishes cutting-edge basic and clinical research, clinical case reports and in-depth topical reviews of interest to rehabilitation professionals.
Topics include prevention, diagnosis, treatment, and rehabilitation of musculoskeletal conditions, brain injury, spinal cord injury, cardiopulmonary disease, trauma, acute and chronic pain, amputation, prosthetics and orthotics, mobility, gait, and pediatrics as well as areas related to education and administration. Other important areas of interest include cancer rehabilitation, aging, and exercise. The Journal has recently published a series of articles on the topic of outcomes research. This well-established journal is the official scholarly publication of the Association of Academic Physiatrists (AAP).
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
