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Abstract：
OBJECTIVE: Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects approximately 1 in 2,500 individuals globally [Ashizawa et al.: Neurol Clin Pract 2018;8(6):507-20]. In patients with DM1, respiratory muscle weakness frequently evolves, leading to respiratory failure as the main cause of death in this patient population, followed by cardiac complications [de Die-Smulders et al.: Brain 1998;121(Pt 8):1557-63], [Mathieu et al.: Neurology 1999;52(8):1658-62], [Groh et al.: Muscle Nerve 2011;43(5):648-51]. This paper provides a more detailed outline on the diagnostic and management protocols, which can guide pulmonologists who may not have experience with DM1 or who are not part of a neuromuscular multidisciplinary clinic. A group of neuromuscular experts in DM1 including pulmonologists, respiratory physiotherapists and sleep specialists discussed respiratory testing and management at baseline and during follow-up visits, based on their clinical experience with patients with DM1. The details are presented in this report.
RESULTS: Myotonic recruited 66 international clinicians experienced in the treatment of people living with DM1 to develop and publish consensus-based care recommendations targeting all body systems affected by this disease [Ashizawa et al.: Neurol Clin Pract. 2018;8(6):507-20]. Myotonic then worked with 12 international respiratory therapists, pulmonologists and neurologists with long-standing experience in DM respiratory care to develop consensus-based care recommendations for pulmonologists using a methodology called the Single Text Procedure. This process generated a 7-page document that provides detailed respiratory care recommendations for the management of patients living with DM1. This consensus is completely based on expert opinion and not backed up by empirical evidence due to limited clinical care data available for respiratory care management in DM patients. Nevertheless, we believe it is of relevance for professionals treating adults with myotonic dystrophy because it addresses practical issues related to respiratory management and care, which have been adapted to meet the specific issues in patients with DM1.
CONCLUSIONS: The resulting recommendations are intended to improve respiratory care for the most vulnerable of DM1 patients and lower the risk of untoward respiratory complications and mortality by providing pulmonologist who are less experienced with DM1 with practical indications on which tests and when to perform them, adapting the general respiratory knowledge to specific issues related to this multiorgan disease.
RESULTS: Myotonic recruited 66 international clinicians experienced in the treatment of people living with DM1 to develop and publish consensus-based care recommendations targeting all body systems affected by this disease [Ashizawa et al.: Neurol Clin Pract. 2018;8(6):507-20]. Myotonic then worked with 12 international respiratory therapists, pulmonologists and neurologists with long-standing experience in DM respiratory care to develop consensus-based care recommendations for pulmonologists using a methodology called the Single Text Procedure. This process generated a 7-page document that provides detailed respiratory care recommendations for the management of patients living with DM1. This consensus is completely based on expert opinion and not backed up by empirical evidence due to limited clinical care data available for respiratory care management in DM patients. Nevertheless, we believe it is of relevance for professionals treating adults with myotonic dystrophy because it addresses practical issues related to respiratory management and care, which have been adapted to meet the specific issues in patients with DM1.
CONCLUSIONS: The resulting recommendations are intended to improve respiratory care for the most vulnerable of DM1 patients and lower the risk of untoward respiratory complications and mortality by providing pulmonologist who are less experienced with DM1 with practical indications on which tests and when to perform them, adapting the general respiratory knowledge to specific issues related to this multiorgan disease.
摘要：
目的：强直性肌营养不良1型（DM1）是一种严重的，影响全球2500人中大约1人的进行性遗传疾病[Ashizawa等人。：NeurolClinPract2018；8（6）：507-20]。在DM1患者中，呼吸肌无力经常发展，导致呼吸衰竭是该患者人群的主要死亡原因，其次是心脏并发症[deDie-Smulders等人。：大脑1998；121(Pt8)：1557-63]，[Mathieu等人。：Neurology1999；52(8)：1658-62]，[Groh等人。：肌神经2011；43（5）：648-51]。本文提供了关于诊断和管理协议的更详细的概述，这可以指导可能没有DM1经验或不属于神经肌肉多学科诊所的肺科医师。包括肺科医师在内的一组DM1神经肌肉专家,呼吸物理治疗师和睡眠专家讨论了基线和随访期间的呼吸测试和管理，根据他们对DM1患者的临床经验。详情见本报告。
结果：Myotonic招募了66名在DM1患者治疗方面有经验的国际临床医生，以制定和发布针对受该疾病影响的所有身体系统的基于共识的护理建议[Ashizawa等。：NeurolClinPract。2018；8（6）：507-20]。Myotonic随后与12名国际呼吸治疗师合作，在DM呼吸护理方面具有长期经验的肺科医师和神经科医师使用称为单一文本程序的方法为肺科医师制定基于共识的护理建议。此过程生成了一份7页的文档，为DM1患者的管理提供了详细的呼吸护理建议。这种共识完全基于专家意见，并且由于可用于DM患者呼吸护理管理的临床护理数据有限，因此没有经验证据支持。然而，我们相信它是相关的专业治疗成人强直性肌营养不良，因为它解决了有关呼吸管理和护理的实际问题，已经适应了DM1患者的具体问题。
结论：由此产生的建议旨在改善对最脆弱的DM1患者的呼吸道护理，并通过为经验较少的DM1患者的肺科医师提供实用的指示来降低不良呼吸道并发症和死亡率。使一般呼吸知识适应与这种多器官疾病相关的特定问题。
结果：Myotonic招募了66名在DM1患者治疗方面有经验的国际临床医生，以制定和发布针对受该疾病影响的所有身体系统的基于共识的护理建议[Ashizawa等。：NeurolClinPract。2018；8（6）：507-20]。Myotonic随后与12名国际呼吸治疗师合作，在DM呼吸护理方面具有长期经验的肺科医师和神经科医师使用称为单一文本程序的方法为肺科医师制定基于共识的护理建议。此过程生成了一份7页的文档，为DM1患者的管理提供了详细的呼吸护理建议。这种共识完全基于专家意见，并且由于可用于DM患者呼吸护理管理的临床护理数据有限，因此没有经验证据支持。然而，我们相信它是相关的专业治疗成人强直性肌营养不良，因为它解决了有关呼吸管理和护理的实际问题，已经适应了DM1患者的具体问题。
结论：由此产生的建议旨在改善对最脆弱的DM1患者的呼吸道护理，并通过为经验较少的DM1患者的肺科医师提供实用的指示来降低不良呼吸道并发症和死亡率。使一般呼吸知识适应与这种多器官疾病相关的特定问题。
