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. 2024 Nov;11(6):1229-1237.
doi: 10.1177/22143602241290353. Epub 2024 Dec 8.

International collaboration to improve knowledge on myotonic dystrophy type 2

Stojan Peric  1 , Vukan Ivanovic  1 , Emma-Jayne Ashley  2 , Belen Esparis  3 , Craig Campbell  4 , Stephan Wenninger  5 , Darren Monckton  6 , Chiara Marini-Bettolo  7 , Helen Walker  7 , Stanislav Voháňka  8 , Kleed Cumming  9 , Anna Łusakowska  10 , Victoria Hodgkinson  11 , Marjan Cosyns  12 , Miriam Rodrigues  13 , Eppie Yiu  14 , Radim Mazanec  15 , Tanya Stevenson  9 , Anna Kostera-Pruszczyk  10 , Lawrence Korngut  11 , Marlène Jagut  12 , Benedikt Schoser  5 , Robin Forbes  14 , Annie Poll  16 , Richard Roxburgh  13
Affiliations
Free article

International collaboration to improve knowledge on myotonic dystrophy type 2

Stojan Peric et al. J Neuromuscul Dis. 2024 Nov.
Free article

Abstract

Background: The TREAT-NMD Global Registry Network is a global collaboration of neuromuscular disease registries, including myotonic dystrophy type 2 (DM2), which aims to facilitate collaborative research and clinical trials.

Objectives: This study aimed to assess DM2 patients included in the network, and to analyse their socio-demographic and clinical features.

Methods: Data were collected through email surveys sent to 16 TREAT-NMD myotonic dystrophy core member registries. 10 registries enrolled DM2 patients.

Results: The total number of DM2 cases was 1,720, with the Czech, German, and USA registries enrolling the most patients (445, 430, and 339 cases, respectively). The highest rates were seen in Czechia and Serbia (4.2 and 2.0 registered per 100,000 population, respectively). High DM2:DM1 ratios were seen in Central Europe. The median age at registry entry was 51 years. Symptom onset occurred before age 20 in 14% of cases. One fifth of patients used an assistive device to walk, and 4% were non-ambulatory. Insertion of a pacemaker or implantable cardioverter-defibrillator was reported in 4% of subjects, while 7% used non-invasive ventilation.

Conclusions: This represents the largest DM2 cohort assembled to date, providing demographic and clinical data for future research and trial recruitment, illustrating TREAT-NMD's international reach and the importance of capturing DM2 data.

Keywords: age at onset; ambulation; myotonic dystrophy type 2; non-invasive ventilation; pacemaker; registry.

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Conflict of interest statement

Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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