PDF(Pubmed)
Abstract：
UNASSIGNED: Myotonic disorders, such as non-dystrophic myotonias (NDMs) and myotonic dystrophies (DMs) are characterized by a delay in muscle relaxation after a contraction stimulus. There is general consensus that protocols to treat myotonia need to be implemented.
UNASSIGNED: Mexiletine is the only pharmacological agent approved for the symptomatic treatment of myotonia in adult patients with NDM and is considered to be the first-line treatment for DMs; however, its production in Italy was halted in 2022 making its availability to patients problematic.
UNASSIGNED: A panel of 8 Italian neurologists took part in a two-round Delphi panel between June and October 2022, analyzing the current use of mexiletine in Italian clinical practice.
UNASSIGNED: The panelists assist 1126 patients (69% DM type1, 18% NDM and 13% DM type2). Adult NDM patients receive, on average, 400-600 mg of mexiletine hydrochloride (HCl) while adult DM patients receive 100-600 mg, per day in the long-term. The severity of symptoms is considered the main reason to start mexiletine treatment for both NDM and DM patients. Mexiletine is reckoned to have a clinical impact for both NDM and DM patients, but currently drug access is problematic.
UNASSIGNED: Mexiletine treatment is recognized to have a role in the reduction of the symptomatic burden for NDM and DM patients. Patient management could be improved by facilitating access to therapy and developing new drug formulations.
UNASSIGNED: Mexiletine is the only pharmacological agent approved for the symptomatic treatment of myotonia in adult patients with NDM and is considered to be the first-line treatment for DMs; however, its production in Italy was halted in 2022 making its availability to patients problematic.
UNASSIGNED: A panel of 8 Italian neurologists took part in a two-round Delphi panel between June and October 2022, analyzing the current use of mexiletine in Italian clinical practice.
UNASSIGNED: The panelists assist 1126 patients (69% DM type1, 18% NDM and 13% DM type2). Adult NDM patients receive, on average, 400-600 mg of mexiletine hydrochloride (HCl) while adult DM patients receive 100-600 mg, per day in the long-term. The severity of symptoms is considered the main reason to start mexiletine treatment for both NDM and DM patients. Mexiletine is reckoned to have a clinical impact for both NDM and DM patients, but currently drug access is problematic.
UNASSIGNED: Mexiletine treatment is recognized to have a role in the reduction of the symptomatic burden for NDM and DM patients. Patient management could be improved by facilitating access to therapy and developing new drug formulations.
摘要：
背景：肌强直性疾病，例如非营养不良性肌张力障碍(NDMs)和肌张力障碍(DMs)的特征在于收缩刺激后肌肉松弛的延迟。普遍的共识是需要实施治疗肌强直的方案。
目的：美西律是唯一被批准用于成人NDM患者肌强直对症治疗的药物，被认为是DM的一线治疗药物；然而，它在意大利的生产于2022年停止，这使得它对患者的可用性存在问题。
方法：由8名意大利神经学家组成的小组在2022年6月至10月期间参加了两轮Delphi小组，分析了美西律在意大利临床实践中的当前使用。
结果：小组成员协助1126名患者（69％DM1型，18％NDM和13％DM2型）。成人NDM患者接受，平均而言,400-600毫克盐酸美西律（HCl），而成年DM患者接受100-600毫克，从长远来看，每天。症状的严重程度被认为是开始对NDM和DM患者进行美西律治疗的主要原因。美西律被认为对NDM和DM患者都有临床影响，但是目前的药物获取是有问题的。
结论：美西律治疗在减轻NDM和DM患者的症状负担方面具有作用。可以通过促进获得治疗和开发新的药物制剂来改善患者管理。
目的：美西律是唯一被批准用于成人NDM患者肌强直对症治疗的药物，被认为是DM的一线治疗药物；然而，它在意大利的生产于2022年停止，这使得它对患者的可用性存在问题。
方法：由8名意大利神经学家组成的小组在2022年6月至10月期间参加了两轮Delphi小组，分析了美西律在意大利临床实践中的当前使用。
结果：小组成员协助1126名患者（69％DM1型，18％NDM和13％DM2型）。成人NDM患者接受，平均而言,400-600毫克盐酸美西律（HCl），而成年DM患者接受100-600毫克，从长远来看，每天。症状的严重程度被认为是开始对NDM和DM患者进行美西律治疗的主要原因。美西律被认为对NDM和DM患者都有临床影响，但是目前的药物获取是有问题的。
结论：美西律治疗在减轻NDM和DM患者的症状负担方面具有作用。可以通过促进获得治疗和开发新的药物制剂来改善患者管理。
