循证指南摘要：面肩肱型肌营养不良症的评估、诊断与管理：美国神经病学学会指南制定、传播与实施小组委员会以及美国神经肌肉与电诊断医学协会实践问题审查小组的报告
Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation 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
Tawil Rabi, Kissel John T, Heatwole Chad, Pandya Shree, Gronseth Gary, Benatar Michael
机构信息
From the MDA Neuromuscular Disease Clinic (R.T.) and the Department of Neurology (C.H., S.P.), School of Medicine and Dentistry, University of Rochester Medical Center, NY; the Department of Neurology (J.T.K.), Wexner Medical Center, Ohio State University, Columbus; the Department of Neurology (G.G.), University of Kansas School of Medicine, Kansas City; and the Department of Neurology (M.B.), Miller School of Medicine, University of Miami, OH.
出版信息
Neurology. 2015 Jul 28;85(4):357-64. doi: 10.1212/WNL.0000000000001783.
OBJECTIVE
To develop recommendations for the evaluation, diagnosis, prognostication, and treatment of facioscapulohumeral muscular dystrophy (FSHD) from a systematic review and analysis of the evidence.
METHODS
Relevant articles were analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and treatment studies. Recommendations were linked to the strength of the evidence and other factors.
RESULTS AND RECOMMENDATIONS
Available genetic testing for FSHD type 1 is highly sensitive and specific. Although respiratory insufficiency occurs rarely in FSHD, patients with severe FSHD should have routine pulmonary function testing. Routine cardiac screening is not necessary in patients with FSHD without cardiac symptoms. Symptomatic retinal vascular disease is very rare in FSHD. Exudative retinopathy, however, is potentially preventable, and patients with large deletions should be screened through dilated indirect ophthalmoscopy. The prevalence of clinically relevant hearing loss is not clear. In clinical practice, patients with childhood-onset FSHD may have significant hearing loss. Because undetected hearing loss may impair language development, screening through audiometry is recommended for such patients. Musculoskeletal pain is common in FSHD and treating physicians should routinely inquire about pain. There is at present no effective pharmacologic intervention in FSHD. Available studies suggest that scapular fixation is safe and effective. Surgical scapular fixation might be cautiously offered to selected patients. Aerobic exercise in FSHD appears to be safe and potentially beneficial. On the basis of the evidence, patients with FSHD might be encouraged to engage in low-intensity aerobic exercises.
目的
通过对证据进行系统评价和分析，制定面肩肱型肌营养不良症（FSHD）评估、诊断、预后及治疗的建议。
方法
根据美国神经病学学会诊断、预后及治疗研究证据方案分类对相关文章进行分析。建议与证据强度及其他因素相关联。
结果与建议
1型FSHD现有的基因检测具有高度敏感性和特异性。虽然呼吸功能不全在FSHD中很少见，但重度FSHD患者应进行常规肺功能检测。无心脏症状的FSHD患者无需进行常规心脏筛查。有症状的视网膜血管疾病在FSHD中非常罕见。然而，渗出性视网膜病变具有潜在可预防性，对于大片段缺失的患者应通过散瞳间接检眼镜进行筛查。临床相关听力损失的患病率尚不清楚。在临床实践中，儿童期起病的FSHD患者可能有明显听力损失。由于未检测到的听力损失可能损害语言发育，建议对这类患者进行听力测定筛查。肌肉骨骼疼痛在FSHD中很常见，治疗医生应常规询问疼痛情况。目前FSHD尚无有效的药物干预措施。现有研究表明肩胛固定术安全有效。可谨慎地为选定患者提供手术肩胛固定术。FSHD患者进行有氧运动似乎是安全且可能有益的。基于现有证据，可鼓励FSHD患者进行低强度有氧运动。
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