UK Myotonic Dystrophy Patient Registry

The UK Myotonic Dystrophy Patient Registry aims to recruit any individual, from anywhere within the United Kingdom, with a diagnosis of myotonic dystrophy who may be interested in becoming involved in future planned clinical trials. Participants may be referred to the registry by health care professionals, genetic testing/laboratory centres who are aware of the registry. Alternatively, a participant may have discovered the registry via promotional activities or by their own online searches. After completing the consent process, participants are able to enter information on to the registry platform (note all forms are also available offline as well). This is an ongoing database and all participants will invited to update their information on an annual basis.The registry is sponsored by Muscular Dystrophy UK and the Myotonic Dystrophy Support Group.The database is divided into two main sections:Mandatory items (demographic information, clinical diagnosis, genetic test result, current best motor function and wheelchair use) andHighly encouraged items (severity of muscle symptoms, cardiac status, respiratory function, digestion, cataracts, and fatigue, ethnic origin and data on involvement with other registries)The database is designed to be self reporting, however where specialised clinical or genetic information is required, the neuromuscular specialist in charge of the participants care can be invited to provide some additional clinical and genetic information. The participant is able to select a health care provider from a pre-populated list at registration stage, to complete this. This information is included in the patient information and consent.英国肌强直性肌营养不良患者登记库（UK Myotonic Dystrophy Patient Registry）旨在招募英国境内所有经确诊患有肌强直性肌营养不良、且有意参与未来规划临床试验的个体。受试者可由知晓该登记库的医疗保健专业人员、基因检测/实验室中心引荐至登记库；亦可通过宣传活动或自主线上检索自行了解该登记库。完成知情同意流程后，受试者即可在登记库平台录入个人信息（注：所有表单同样支持线下填写）。本数据库为持续更新型库藏，所有受试者每年均可受邀更新个人信息。该登记库由英国肌营养不良协会（Muscular Dystrophy UK）与肌强直性肌营养不良互助小组（Myotonic Dystrophy Support Group）赞助支持。 本数据库分为两大核心模块：其一为必填项，涵盖人口统计学信息、临床诊断结果、基因检测报告、当前最佳运动功能状况及轮椅使用情况；其二为强烈建议填写项，包括肌肉症状严重程度、心脏状态、呼吸功能、消化状况、白内障情况、疲劳程度、种族血统，以及参与其他登记库的相关数据。 本数据库采用受试者自主填报模式，但若需获取专业临床或基因信息，则可邀请负责受试者诊疗的神经肌肉专科医师提供补充临床与基因相关数据。受试者可在注册阶段从预填充列表中选择医疗服务提供者，以完成相关信息填报。该说明已纳入患者知情同意文件中。