MYOTONIC DYSTROPHY

The UK myotonic dystrophy patient registry is a self-enrolling online database collecting clinical and genetic information about type 1 (DM1) 2 (DM2). was established in May 2012 with support from muscular the group, assisted by TREAT-NMD Alliance coordinated Newcastle University. aims to; facilitate academic research, better characterise understand DM, disseminate relating to upcoming studies research advancements. used capture longitudinal, self-reported data through an portal available patients clinicians. Where specialised or required, neuromuscular specialist involved patient's care can be invited provide some additional select them pre-populated list at registration stage. has adopted core dataset for DM1. Between March 2021, there were 797 registrations. On average are 5 new registrations per month. For those reporting diagnosis, 96% have DM1 (of which 12% diagnosis of congenital DM) 4% DM2. Overall, 42% had confirmation their condition provided. Eighty-eight percent also report positive family history DM. most commonly reported symptoms day-time sleepiness/fatigue (75%) myotonia (72%). 21% medication use sleepiness/fatigue, 11% myotonia. previously supported almost 30 enquiries date. Since 2020, facilitated 11 including industry enquiry, three COVID-19 surveys, various surveys capturing on dysphagia, pregnancy, preferences future treatments patient/caregiver experience. continues versatile, cost-effective tool, helping advance range DM research. Additional work done improve linkage plans between biobank rare diseases.