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RESEARCH PRODUCT
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
Hugo VaretGuilhem SoléDominique MenardCelia BoutteKhadija AmarofValerie Drouin-garraudJack PuymiratGerard RiviereFelix RougierFrançoise ChaponMarguerite PreudhommeAnne-laure Bedat-milletXavier FerrerDalil HamrounTanya StojkovichVincent TiffreauPascal CintasRomain K. GherardiLaurent MagyCéline DoganKarima GhorabFrançoise BouhourMarianne FabbroSybille PellieuxGilbert CaranhacRomain DeschampsRémi BellanceHelene Gervais-bernardPascal LaforêtMarie-christine MinotSabrina SacconiEmmanuelle Campana-salortMarie-christine Arne BesClaude DesnuelleAleksandra Nadaj-paklezaAndoni UrtizbereaChristophe VialFrançois BoyerAnthony BehinArmelle MagotFabien ZagnoliBruno EymardYann PéréonJean PougetGuillaume BassezMarie De AntonioMarie De AntonioSandrine KatsahianAlain GeilleClaude Bourliersubject
Male0301 basic medicineDatabases FactualPhysiologyCross-sectional studyMyotonic dystrophylcsh:MedicineDiseasecomputer.software_genreinfo:eu-repo/classification/mesh/Socioeconomic FactorsLaryngologyinfo:eu-repo/classification/mesh/Myotonic Dystrophy/epidemiology*0302 clinical medicineMedicine and Health SciencesEthnicitiesMedicineinfo:eu-repo/classification/mesh/FemaleFrench Peoplelcsh:Scienceinfo:eu-repo/classification/mesh/Adulteducation.field_of_studyMultidisciplinaryinfo:eu-repo/classification/mesh/Factual*Death ratesDatabaseCognitive NeurologyMortality rateDysphagia3. Good healthPhenotypeCognitive impairmentNeurologyPhysiological ParametersFemaleinfo:eu-repo/classification/mesh/Databasesinfo:eu-repo/classification/mesh/MaleResearch ArticleAdultMaternal inheritanceCognitive NeurosciencePopulation[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human geneticsMyotonic dystrophy03 medical and health sciencesPopulation MetricsAdultsHumansObesitySex DistributioneducationDemographyinfo:eu-repo/classification/mesh/Cross-Sectional StudiesPopulation BiologyCataractsbusiness.industrylcsh:RBody WeightBiology and Life Sciencesmedicine.diseaseMyotoniaThyroid disorderinfo:eu-repo/classification/mesh/Sex DistributionHealth CareOphthalmologyCross-Sectional Studies030104 developmental biologyOtorhinolaryngologySocioeconomic Factors[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAge Groups[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologieLens DisordersPeople and Placesinfo:eu-repo/classification/mesh/Myotonic Dystrophy/mortalityCognitive Sciencelcsh:QPopulation Groupings[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieHealth StatisticsMorbidityAge of onsetbusinessinfo:eu-repo/classification/mesh/Phenotype*computerinfo:eu-repo/classification/mesh/Humans030217 neurology & neurosurgeryNeurosciencedescription
International audience; BACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and prognosis. Differences between males and females have not been specifically reported. Our aim is to study gender impact on DM1 phenotype and severity.METHODS: We first performed cross-sectional analysis of main multiorgan clinical parameters in 1409 adult DM1 patients (\textgreater18y) from the DM-Scope nationwide registry and observed different patterns in males and females. Then, we assessed gender impact on social and economic domains using the AFM-Téléthon DM1 survey (n = 970), and morbidity and mortality using the French National Health Service Database (n = 3301). RESULTS: Men more frequently had (1) severe muscular disability with marked myotonia, muscle weakness, cardiac, and respiratory involvement; (2) developmental abnormalities with facial dysmorphism and cognitive impairment inferred from low educational levels and work in specialized environments; and (3) lonely life. Alternatively, women more frequently had cataracts, dysphagia, digestive tract dysfunction, incontinence, thyroid disorder and obesity. Most differences were out of proportion to those observed in the general population. Compared to women, males were more affected in their social and economic life. In addition, they were more frequently hospitalized for cardiac problems, and had a higher mortality rate.CONCLUSION: Gender is a previously unrecognized factor influencing DM1 clinical profile and severity of the disease, with worse socio-economic consequences of the disease and higher morbidity and mortality in males. Gender should be considered in the design of both stratified medical management and clinical trials
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2016-02-05 | PLOS ONE |