Consensus statement on standard of care for congenital myopathies.
СтатьяПоддержка исследования: вне правительства СШАConsensus StatementНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Wang Ching H, Dowling James J, North Kathryn, Schroth Mary K, Sejersen Thomas, Shapiro Frederic, Bellini Jonathan, Weiss Hali, Guillet Marc, Amburgey Kimberly, Apkon Susan, Bertini Enrico, Bonnemann Carsten, Clarke Nigel, Connolly Anne M, Estournet-Mathiaud Brigitte, Fitzgerald Dominic, Florence Julaine M, Gee Richard, Gurgel-Giannetti Juliana, Glanzman Allan M, Hofmeister Brittany, Jungbluth Heinz, Koumbourlis Anastassios C, Laing Nigel G, Main Marion, Morrison Leslie A, Munns Craig, Rose Kristy, Schuler Pamela M, Sewry Caroline, Storhaug Kari, Vainzof Mariz, Yuan Nanci
Аннотация
Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee's recommendations for symptom assessments and therapeutic interventions. It is the committee's goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.