International collaboration to improve knowledge on myotonic dystrophy type 2
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F24%3A10494229" target="_blank" >RIV/00064203:_____/24:10494229 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/24:10494229
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=6KUaOKr5u0" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=6KUaOKr5u0</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1177/22143602241290353" target="_blank" >10.1177/22143602241290353</a>
Alternative languages
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's international reach and the importance of capturing DM2 data.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Neuromuscular Diseases
ISSN
2214-3602
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