P.213 TREAT-NMD myotonic dystrophy global registry network: An international collaboration in myotonic dystrophy type 2

Abstract

Myotonic dystrophy type 2 (DM2) is a rare multi-system disease recognised in the last three decades. The TREAT-NMD Global Registry Network is a global collaboration of registries collecting data on neuromuscular conditions such as DM2. The aim is to assess the number of DM2 patients included in the network, and analyse socio-demographic and clinical features. An email survey was sent to the 22 member DM registries requesting data on number of DM1 and DM2 patients, population catchment, and clinical features. Of the 13 DM registries that responded, eight enrolled DM2 patients. The total number of DM2 cases was 1,720, with the Czech/Slovakian, German and the USA (MDF) registries enrolling the most patients with 445, 430, and 339, respectively. The highest number of registered cases per 100,000 population was seen in the Czech/Slovakia (4.2) and Serbia (2.0). The DM2:DM1 ratio was highest in the Central European countries. Registry enrolment occurred at a median age of 51 years with 63% being female. Onset of DM2 occurred before the age of 20 in 14% of cases. One fifth of DM2 patients used an assistive device to walk and 4% were non-ambulant. Pacemaker or implantable cardioverter-defibrillator was reported in 4% of DM2 subjects, while 7% used non-invasive ventilation. TREAT-NMD member registries were able to assemble the largest DM2 cohort to date with an international reach, providing meaningful clinical and demographic data. More DM registries should aim to capture DM2 data to contribute to important collaborations such as this one, which can support future research and clinical trial recruitment.