Literature DB >> 29361394

Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey.

A C Jiménez-Moreno1, J Raaphorst2, H Babačić3, L Wood1, B van Engelen2, H Lochmüller1, B Schoser3, S Wenninger4.   

Abstract

Myotonic Dystrophy type 1 multisystem involvement leads to functional impairment with an increased risk of falling. This multinational study estimates the prevalence of falls and fall-associated fractures. A web-based survey among disease-specific registries (Germany, UK and The Netherlands) was carried out among DM1 ambulant adults with a total of 573 responses retrieved. Results provided a risk ratio estimation of 30%-72% for falls and of 11%-17% for associated fractures. There was no significant difference for falls between male and female, but there was for fall-related fractures with a higher prevalence in women. Balance and leg weakness were the most commonly reported causes for falling. This study is based on a voluntary retrospective survey with naturally inherent limitations; however, the sample size allows for robust comparisons. The estimated risk of falls in this cohort with a mean age of 46 years compares to a previous estimation for a healthy population of over 65 years of age. These results suggest a premature-ageing DM1 phenotype with an increased risk of falling depending on age and disease severity that, so far, might have been underestimated. This may have clinical implications for the development of care guidelines and when testing new interventions in this population.
Copyright © 2017 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Balance; DM1; Falls; Fractures; Myotonic dystrophy

Mesh:

Year:  2017        PMID: 29361394     DOI: 10.1016/j.nmd.2017.12.010

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


  5 in total

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Authors:  Melissa A Hale; Nicholas E Johnson; J Andrew Berglund
Journal:  Biochim Biophys Acta Gene Regul Mech       Date:  2019-07-16       Impact factor: 4.490

Review 2.  DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.

Authors:  Stéphanie Tomé; Geneviève Gourdon
Journal:  Int J Mol Sci       Date:  2020-01-10       Impact factor: 5.923

Review 3.  Core Clinical Phenotypes in Myotonic Dystrophies.

Authors:  Stephan Wenninger; Federica Montagnese; Benedikt Schoser
Journal:  Front Neurol       Date:  2018-05-02       Impact factor: 4.003

4.  Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Authors:  Libby Wood; Guillaume Bassez; Corinne Bleyenheuft; Craig Campbell; Louise Cossette; Aura Cecilia Jimenez-Moreno; Yi Dai; Hugh Dawkins; Jorge Alberto Diaz Manera; Celine Dogan; Rasha El Sherif; Barbara Fossati; Caroline Graham; James Hilbert; Kristinia Kastreva; En Kimura; Lawrence Korngut; Anna Kostera-Pruszczyk; Christopher Lindberg; Bjorn Lindvall; Elizabeth Luebbe; Anna Lusakowska; Radim Mazanec; Giovani Meola; Liannna Orlando; Masanori P Takahashi; Stojan Peric; Jack Puymirat; Vidosava Rakocevic-Stojanovic; Miriam Rodrigues; Richard Roxburgh; Benedikt Schoser; Sonia Segovia; Andriy Shatillo; Simone Thiele; Ivailo Tournev; Baziel van Engelen; Stanislav Vohanka; Hanns Lochmüller
Journal:  Orphanet J Rare Dis       Date:  2018-09-05       Impact factor: 4.123

5.  What Happened with Muscle Force, Dynamic Stability And Falls? A 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 1.

Authors:  Elisabet Hammarén; Lena Kollén
Journal:  J Neuromuscul Dis       Date:  2021
  5 in total

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