循证指南摘要：肢带型和远端型肌营养不良症的诊断与治疗：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: diagnosis and treatment of limb-girdle and distal dystrophies: 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
Narayanaswami Pushpa, Weiss Michael, Selcen Duygu, David William, Raynor Elizabeth, Carter Gregory, Wicklund Matthew, Barohn Richard J, Ensrud Erik, Griggs Robert C, Gronseth Gary, Amato Anthony A
机构信息
From the Department of Neurology (P.N., E.R.), Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA; the Department of Neurology (M.W.), University of Washington Medical Center, Seattle; the Department of Neurology (D.S.), Mayo Clinic, Rochester, MN; the Department of Neurology (W.D.), Massachusetts General Hospital/Harvard Medical School, Boston; St Luke's Rehabilitation Institute (G.C.), Spokane, WA; the Department of Neurology (M.W.), Penn State Hershey Medical Center, PA; the Department of Neurology (R.J.B., G.G.), University of Kansas Medical Center, Kansas City; the Neuromuscular Center (E.E.), Boston VA Medical Center, MA; the Department of Neurology (R.C.G.), University of Rochester Medical Center, NY; and the Department of Neurology (E.E., A.A.A.), Brigham and Women's Hospital/Harvard Medical School, Boston, MA.
出版信息
Neurology. 2014 Oct 14;83(16):1453-63. doi: 10.1212/WNL.0000000000000892.
OBJECTIVE
To review the current evidence and make practice recommendations regarding the diagnosis and treatment of limb-girdle muscular dystrophies (LGMDs).
METHODS
Systematic review and practice recommendation development using the American Academy of Neurology guideline development process.
RESULTS
Most LGMDs are rare, with estimated prevalences ranging from 0.07 per 100,000 to 0.43 per 100,000. The frequency of some muscular dystrophies varies based on the ethnic background of the population studied. Some LGMD subtypes have distinguishing features, including pattern of muscle involvement, cardiac abnormalities, extramuscular involvement, and muscle biopsy findings. The few published therapeutic trials were not designed to establish clinical efficacy of any treatment.
PRINCIPAL RECOMMENDATIONS
For patients with suspected muscular dystrophy, clinicians should use a clinical approach to guide genetic diagnosis based on clinical phenotype, inheritance pattern, and associated manifestations (Level B). Clinicians should refer newly diagnosed patients with an LGMD subtype and high risk of cardiac complications for cardiology evaluation even if they are asymptomatic from a cardiac standpoint (Level B). In patients with LGMD with a known high risk of respiratory failure, clinicians should obtain periodic pulmonary function testing (Level B). Clinicians should refer patients with muscular dystrophy to a clinic that has access to multiple specialties designed specifically to care for patients with neuromuscular disorders (Level B). Clinicians should not offer patients with LGMD gene therapy, myoblast transplantation, neutralizing antibody to myostatin, or growth hormone outside of a research study designed to determine efficacy and safety of the treatment (Level R). Detailed results and recommendations are available on the Neurology® Web site at Neurology.org.
目的
回顾当前证据并就肢带型肌营养不良症（LGMDs）的诊断和治疗提出实践建议。
方法
采用美国神经病学学会指南制定流程进行系统评价和实践建议制定。
结果
大多数LGMDs较为罕见，估计患病率为每10万人0.07至0.43例。某些肌营养不良症的发病率因所研究人群的种族背景而异。一些LGMD亚型具有显著特征，包括肌肉受累模式、心脏异常、肌肉外受累及肌肉活检结果。少数已发表的治疗试验并非旨在确定任何治疗方法的临床疗效。
主要建议
对于疑似肌营养不良症的患者，临床医生应采用基于临床表型、遗传模式及相关表现的临床方法来指导基因诊断（B级）。即使从心脏角度无症状，临床医生也应将新诊断为LGMD亚型且有高心脏并发症风险的患者转诊至心脏病学评估（B级）。对于已知有高呼吸衰竭风险的LGMD患者，临床医生应定期进行肺功能检测（B级）。临床医生应将肌营养不良症患者转诊至能提供专门针对神经肌肉疾病患者护理的多个专科的诊所（B级）。在旨在确定治疗效果和安全性的研究之外，临床医生不应为LGMD患者提供基因治疗、成肌细胞移植、肌生成抑制素中和抗体或生长激素（R级）。详细结果和建议可在Neurology.org的Neurology®网站上获取。
Zotero 插件