International collaboration to improve knowledge on myotonic dystrophy type 2

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F24%3A00081100" target="_blank" >RIV/65269705:_____/24:00081100 - isvavai.cz</a>

Result on the web

<a href="https://journals.sagepub.com/doi/10.1177/22143602241290353?icid=int.sj-full-text.citing-articles.1" target="_blank" >https://journals.sagepub.com/doi/10.1177/22143602241290353?icid=int.sj-full-text.citing-articles.1</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1177/22143602241290353" target="_blank" >10.1177/22143602241290353</a>

Result language

angličtina

Original language name

International collaboration to improve knowledge on myotonic dystrophy type 2

Original language description

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&apos;s international reach and the importance of capturing DM2 data.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2024

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Neuromuscular Diseases

ISSN

2214-3599

e-ISSN

2214-3602

Volume of the periodical

11

Issue of the periodical within the volume

6

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

9

Pages from-to

1229-1237

UT code for WoS article

001459515400001

EID of the result in the Scopus database

2-s2.0-85219140385