循证指南摘要：先天性肌营养不良的评估、诊断与管理：美国神经病学学会指南制定小组委员会及美国神经肌肉与电诊断医学协会实践问题审查小组报告
Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
作者信息
Kang Peter B, Morrison Leslie, Iannaccone Susan T, Graham Robert J, Bönnemann Carsten G, Rutkowski Anne, Hornyak Joseph, Wang Ching H, North Kathryn, Oskoui Maryam, Getchius Thomas S D, Cox Julie A, Hagen Erin E, Gronseth Gary, Griggs Robert C
机构信息
From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediatrics and Neurology & Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, and Children's Medical Center, Dallas; Division of Critical Care Medicine (R.J.G.), Boston Children's Hospital, and Department of Anaesthesia, Harvard Medical School, Boston; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Cure Congenital Muscular Dystrophy (Cure CMD) (A.R.), Olathe, KS; Department of Emergency Medicine (A.R.), Kaiser Permanente South Bay Medical Center, Harbor City, CA; Department of Physical Medicine & Rehabilitation (J.H.), University of Michigan, Ann Arbor; Departments of Neurology and Pediatrics (C.H.W.), School of Medicine, Stanford University, CA; Department of Neurology (C.H.W.), Driscoll Children's Hospital, Corpus Christi, TX; Murdoch Childrens Research Institute (K.N.), The Royal Children's Hospital, and University of Melbourne, Australia; Neurology & Neurosurgery (M.O.), McGill University, Montréal, Canada; Center for Health Policy (T.S.D.G., J.A.C., E.E.H.), American Academy of Neurology, Minneapolis, MN; Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and Department of Neurology (R.C.G.), University of Rochester Medical Center, NY.
出版信息
Neurology. 2015 Mar 31;84(13):1369-78. doi: 10.1212/WNL.0000000000001416.
OBJECTIVE
To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature.
METHODS
Relevant, peer-reviewed research articles were identified using a literature search of the MEDLINE, EMBASE, and Scopus databases. Diagnostic and therapeutic data from these articles were extracted and analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and therapeutic studies. Recommendations were linked to the strength of the evidence, other related literature, and general principles of care.
RESULTS
The geographic and ethnic backgrounds, clinical features, brain imaging studies, muscle imaging studies, and muscle biopsies of children with suspected CMD help predict subtype-specific diagnoses. Genetic testing can confirm some subtype-specific diagnoses, but not all causative genes for CMD have been described. Seizures and respiratory complications occur in specific subtypes. There is insufficient evidence to determine the efficacy of various treatment interventions to optimize respiratory, orthopedic, and nutritional outcomes, and more data are needed regarding complications.
RECOMMENDATIONS
Multidisciplinary care by experienced teams is important for diagnosing and promoting the health of children with CMD. Accurate assessment of clinical presentations and genetic data will help in identifying the correct subtype-specific diagnosis in many cases. Multiorgan system complications occur frequently; surveillance and prompt interventions are likely to be beneficial for affected children. More research is needed to fill gaps in knowledge regarding this category of muscular dystrophies.
目的
通过对现有文献进行系统综述和分析，阐明先天性肌营养不良（CMD）的最佳诊断和治疗方法。
方法
通过检索MEDLINE、EMBASE和Scopus数据库来识别相关的、经同行评审的研究文章。根据美国神经病学学会关于诊断、预后和治疗研究的证据分类方案，提取并分析这些文章中的诊断和治疗数据。建议与证据强度、其他相关文献及一般护理原则相关联。
结果
疑似CMD患儿的地理和种族背景、临床特征、脑成像研究、肌肉成像研究及肌肉活检有助于预测特定亚型的诊断。基因检测可确诊某些特定亚型的诊断，但并非所有CMD的致病基因均已明确。癫痫发作和呼吸并发症在特定亚型中出现。尚无足够证据确定各种治疗干预措施对优化呼吸、骨科和营养结局的疗效，且关于并发症的更多数据仍需进一步研究。
建议
由经验丰富的团队提供多学科护理对于诊断和促进CMD患儿的健康至关重要。准确评估临床表现和基因数据将有助于在许多情况下确定正确的特定亚型诊断。多器官系统并发症频繁发生；监测和及时干预可能对受影响的儿童有益。需要更多研究来填补这类肌营养不良症在知识方面的空白。
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