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Malformations et maladies congénitales, héréditaires et néonatales
Maladies génétiques congénitales
Dystrophies musculaires
Dystrophie myotonique
Dystrophie myotonique : Questions médicales fréquentes
Diagnostic
5
Dystrophie myotonique
Diagnostic médical
Tests génétiques
Dystrophie myotonique
Symptômes
Dystrophie myotonique
Électromyogramme
Dystrophie myotonique
Âge
Dystrophie myotonique
Symptômes
5
Symptômes
Dystrophie myotonique
Myotonie
Dystrophie myotonique
Arythmie
Dystrophie myotonique
Évolution
Dystrophie myotonique
Troubles endocriniens
Dystrophie myotonique
Prévention
5
Prévention
Dystrophie myotonique
Dépistage prénatal
Dystrophie myotonique
Tests génétiques
Dystrophie myotonique
Conseils génétiques
Dystrophie myotonique
Transmission génétique
Dystrophie myotonique
Traitements
5
Traitement
Dystrophie myotonique
Physiothérapie
Dystrophie myotonique
Médicaments
Dystrophie myotonique
Chirurgie
Dystrophie myotonique
Essais cliniques
Dystrophie myotonique
Complications
5
Complications
Dystrophie myotonique
Respiration
Dystrophie myotonique
Diabète
Dystrophie myotonique
Troubles cognitifs
Dystrophie myotonique
Fertilité
Dystrophie myotonique
Facteurs de risque
5
Facteurs de risque
Dystrophie myotonique
Transmission héréditaire
Dystrophie myotonique
Genre
Dystrophie myotonique
Âge parental
Dystrophie myotonique
Facteurs environnementaux
Dystrophie myotonique
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"name": "Quels tests génétiques sont utilisés ?",
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"name": "L'électromyogramme est-il utile ?",
"position": 4,
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"name": "Peut-on diagnostiquer à tout âge ?",
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"name": "Quels sont les principaux symptômes ?",
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"name": "Le dépistage prénatal est-il possible ?",
"position": 12,
"acceptedAnswer": {
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"text": "Oui, le dépistage prénatal peut identifier les mutations génétiques chez le fœtus."
}
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{
"@type": "Question",
"name": "Les tests génétiques sont-ils recommandés ?",
"position": 13,
"acceptedAnswer": {
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"text": "Oui, les tests génétiques sont conseillés pour les membres de familles à risque."
}
},
{
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"name": "Les conseils génétiques sont-ils utiles ?",
"position": 14,
"acceptedAnswer": {
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"text": "Oui, les conseils génétiques aident les familles à comprendre les risques et options."
}
},
{
"@type": "Question",
"name": "Les porteurs de la maladie peuvent-ils avoir des enfants ?",
"position": 15,
"acceptedAnswer": {
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"text": "Oui, les porteurs peuvent avoir des enfants, mais il y a un risque de transmission."
}
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"position": 16,
"acceptedAnswer": {
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"text": "Il n'existe pas de traitement curatif, mais des thérapies symptomatiques sont proposées."
}
},
{
"@type": "Question",
"name": "La physiothérapie est-elle bénéfique ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie aide à maintenir la force musculaire et la mobilité."
}
},
{
"@type": "Question",
"name": "Des médicaments sont-ils prescrits ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments comme les relaxants musculaires peuvent être utilisés pour la myotonie."
}
},
{
"@type": "Question",
"name": "La chirurgie est-elle une option ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "La chirurgie peut être envisagée pour des complications spécifiques, comme les hernies."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des essais cliniques explorent des thérapies géniques et des médicaments ciblés."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles ?",
"position": 21,
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"@type": "Answer",
"text": "Les complications incluent des problèmes respiratoires, cardiaques et endocriniens."
}
},
{
"@type": "Question",
"name": "La dystrophie myotonique affecte-t-elle la respiration ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles respiratoires peuvent survenir, nécessitant une surveillance."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque de diabète ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent développer une insulinorésistance et un diabète."
}
},
{
"@type": "Question",
"name": "Les troubles de la mémoire sont-ils fréquents ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles cognitifs et de la mémoire peuvent affecter certains patients."
}
},
{
"@type": "Question",
"name": "Des problèmes de fertilité peuvent-ils survenir ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des problèmes de fertilité sont possibles, surtout chez les hommes."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux et des mutations génétiques spécifiques."
}
},
{
"@type": "Question",
"name": "La transmission est-elle héréditaire ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la dystrophie myotonique est transmise de manière autosomique dominante."
}
},
{
"@type": "Question",
"name": "Les femmes sont-elles plus touchées ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la maladie affecte les hommes et les femmes de manière égale."
}
},
{
"@type": "Question",
"name": "L'âge parental influence-t-il le risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un âge parental avancé peut augmenter le risque de mutations génétiques."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme influence."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 13/03/2026
Contenu vérifié selon les dernières recommandations médicales
5 publications dans cette catégorie
Affiliations :
Department of Biomedical Sciences for Health, University of Milan, Italy.
Department of Neurorehabilitation Sciences, Casa di Cura del Policlinico, Milan, Italy.
Publications dans "Dystrophie myotonique" :
4 publications dans cette catégorie
Affiliations :
National Hospital for Neurology and Neurosurgery, Queen Square, University College London Hospitals NHS Foundation Trust, London, UK.
Publications dans "Dystrophie myotonique" :
4 publications dans cette catégorie
Affiliations :
University Clinical Center of Serbia, Neurology Clinic, Dr Subotic Street 6, 11000 Belgrade, Serbia; University of Belgrade, Faculty of Medicine, Dr Subotic Street 8, 11000 Belgrade, Serbia. Electronic address: stojanperic@gmail.com.
Publications dans "Dystrophie myotonique" :
3 publications dans cette catégorie
Affiliations :
Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, Paris, France.
Publications dans "Dystrophie myotonique" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Genetics & Microbiology, Center for NeuroGenetics, UF Genetics Institute, University of Florida College of Medicine, Gainesville, Florida.
Publications dans "Dystrophie myotonique" :
3 publications dans cette catégorie
Affiliations :
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
National Hospital for Neurology and Neurosurgery, Queen Square, University College London Hospitals NHS Foundation Trust, London, UK.
Publications dans "Dystrophie myotonique" :
3 publications dans cette catégorie
Affiliations :
Department of Neuropediatrics and Muscle Disorders, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Division of Neurology, Department of Medicine, Children's Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, University of Ottawa, Ottawa, Canada.
Publications dans "Dystrophie myotonique" :
3 publications dans cette catégorie
Affiliations :
Paediatric Neurology Department, Children's Hospital, London Health Science Centre, 800 Commissioners Road East, PO Box 5012, London, Ontario, Canada, N6A 5W9.
Department of Paediatrics, Clinical Neurological Sciences and Epidemiology, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Publications dans "Dystrophie myotonique" :
3 publications dans cette catégorie
Affiliations :
Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, Rochester, NY 14642, USA.
Center for RNA Biology, University of Rochester School of Medicine and Dentistry, Rochester, Rochester, NY 14642, USA.
Publications dans "Dystrophie myotonique" :
3 publications dans cette catégorie
Affiliations :
University Clinical Center of Serbia, Neurology Clinic, Dr Subotic Street 6, 11000 Belgrade, Serbia; University of Belgrade, Faculty of Medicine, Dr Subotic Street 8, 11000 Belgrade, Serbia.
Publications dans "Dystrophie myotonique" :
2 publications dans cette catégorie
Publications dans "Dystrophie myotonique" :
2 publications dans cette catégorie
Affiliations :
Institute of Environmental Medicine, Karolinska Institutet, Nobels väg 13, 17177, Stockholm, Sweden. erik.landfeldt@ki.se.
ICON plc, Stockholm, Sweden. erik.landfeldt@ki.se.
Publications dans "Dystrophie myotonique" :
2 publications dans cette catégorie
Affiliations :
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Publications dans "Dystrophie myotonique" :
2 publications dans cette catégorie
Affiliations :
Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Publications dans "Dystrophie myotonique" :
2 publications dans cette catégorie
Affiliations :
Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
Publications dans "Dystrophie myotonique" :
2 publications dans cette catégorie
Affiliations :
Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, University of Newcastle, Newcastle upon Tyne, UK.
Publications dans "Dystrophie myotonique" :
2 publications dans cette catégorie
Affiliations :
Neuromuscular Diseases Group, Biodonostia Health Research Institute, 20014 San Sebastian, Spain.
Cellular Oncology Group, Biodonostia Health Research Institute, 20014 San Sebastian, Spain.
Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED-CIBER), Carlos III Institute, 28031 Madrid, Spain.
Publications dans "Dystrophie myotonique" :
2 publications dans cette catégorie
Affiliations :
Cellular Oncology Group, Biodonostia Health Research Institute, 20014 San Sebastian, Spain.
Publications dans "Dystrophie myotonique" :
2 publications dans cette catégorie
Affiliations :
Cellular Oncology Group, Biodonostia Health Research Institute, 20014 San Sebastian, Spain.
Basque Foundation for Science (IKERBASQUE), 48009 Bilbao, Spain.
Centro de Investigación Biomédica en Red Fragilidad y Envejecimiento Saludable (CIBERfes), Carlos III Institute, 28029 Madrid, Spain.
Publications dans "Dystrophie myotonique" :
2 publications dans cette catégorie
Affiliations :
Neuromuscular Diseases Group, Biodonostia Health Research Institute, 20014 San Sebastian, Spain.
Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED-CIBER), Carlos III Institute, 28031 Madrid, Spain.
Neurology Department, Donostia University Hospital, OSAKIDETZA, 20014 San Sebastian, Spain.
Department of Neurosciences, Faculty of Medicine and Nursery, University of the Basque Country, 20014 San Sebastian, Spain.
Publications dans "Dystrophie myotonique" :
Myotonic dystrophy (DM) is an autosomal dominant genetic disorder characterized by progressively worsening loss of muscle mass and weakness. Anesthesiologists face challenges in managing these patient...
Urinary titin, an easy-to-obtain marker, has been investigated in muscular dystrophies, but not in myotonic dystrophy type 1 (DM1). We investigated the role of titin as a biomarker of muscle injury in...
We compared the urinary titin N-fragment/creatinine ratio in 29 patients with DM1 vs. 30 healthy controls. We also recorded clinical data such as muscle strength, serum creatine kinase, DM1-related ou...
The titin/creatinine ratio was significantly higher in the urine samples of DM1 patients than of healthy controls (median ± mean absolute deviation [MAD]: 39.313 ± 26.546 vs. 6.768 ± 5.245 pmol/mg cre...
Urinary titin may be a biomarker for DM1. Long-term follow-up of DM1 patients is needed to investigate the potential role of titin as a biomarker for disease activity and progression....
Ultrasound imaging of muscle tissue conventionally results in two-dimensional sampling of tissue. For heterogeneously affected muscles, a sampling error using two-dimensional (2D) ultrasound can there...
Patients with facioscapulohumeral dystrophy (n = 31) and myotonic dystrophy type 1 (n = 16) were included in this study. After physical examination, including Medical Research Council (MRC) scores, th...
With 3D QMUS local deviations from the healthy reference could be detected. Significant Pearson correlations (P < .01) between MRC score and QMUS parameters in male patients (n = 23) included the mean...
In addition to mean EI, multiple QMUS parameters reported in this study are potential biomarkers for pathology. Besides a moderate correlation of mean EI with muscle weakness, two other parameters sho...
Myotonic dystrophy type 2 (DM2) is a genetic disorder belonging to the spectrum of myotonic dystrophies. DM2 is characterized by progressive muscle weakness, wasting and muscle pain (myalgia), but can...
Recent studies have focused on different aspects of multisystemic involvement. Early and severe cardiac involvement can occur in DM2 and needs to be managed appropriately. Diabetes has been shown to b...
The multisystemic aspects of the disease require a multidisciplinary approach for some patients, most likely even including state-of-the-art cardiac and brain imaging to detect and treat complications...
Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease associated with toxic RNA containing expanded CUG repeats. The developing therapeutic approaches to DM1 target mutant RNA or correct early to...
MScanFit is a new motor unit number estimation (MUNE) technique applied in motor neuron diseases and polyneuropathies to assess clinical progression and underlying disease pathology. So far, its value...
Motor unit loss and characteristics of patients with genetically confirmed MD type 1 (n = 7) and type 2 (n = 5) were investigated using MScanFit of the abductor pollicis brevis muscle and compared to ...
MScanFit detected motor unit loss in patients with MD (p = 0.017). There was no significant difference in motor unit loss between MD type 1 and type 2 (p = 0.64). CMAP-discontinuities which, when adde...
Our study shows the feasibility of MScanFit in MD and its potential to serve as a surrogate marker for overall muscle impairment. Motor unit analysis indicates that neurogenic alterations in both MD s...
Muscular dystrophies and myotonic disorders are genetic disorders characterized by progressive skeletal muscle degeneration and weakness. Epidemiologic studies have found an increased cancer risk in m...
We performed a matched cohort study in all patients with muscular dystrophy or myotonic dystrophy born in Sweden 1950-2017 and 50 matched comparisons by sex, year of birth, and birth county per indivi...
We identified 2,355 and 1,968 individuals with muscular dystrophy and myotonic dystrophy, respectively. No increased overall cancer risk was found in muscular dystrophy. However, we observed an increa...
Here, we analyze the cancer risk spectrum of patients with muscular dystrophy and myotonic dystrophy. To the best of our knowledge, this is the first report of an increased risk for CNS tumors in chil...
A male patient in his 30s, with myotonic dystrophy (DM), presented to the emergency department with abdominal pain and vomiting. CT imaging revealed a soft tissue lesion in the terminal ileum causing ...
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults, yet there are currently no disease-modifying treatments. Disrupted miRNA expressions may lead to dysregulation of targe...
We used microarray platforms to examine the miRNA/mRNA expression profiles in skeletal muscle biopsies derived from DM1 patients and matched controls. Bioinformatics analysis and dual-luciferase repor...
Twenty-three differentially expressed miRNAs and 135 differentially expressed genes were identified. qPCR confirmed that miR-3201, myogenic factor 5 (MYF5), myogenic differentiation 1 (MYOD1), CUGBP, ...
Those results implied that the observed miRNA/mRNA dysregulation could contribute to specific functions and pathways related to DM1 pathogenesis, highlighting the dysfunction of miR-196a and CELF2....
We recently reported that upregulation of Musashi 2 (MSI2) protein in the rare neuromuscular disease myotonic dystrophy type 1 contributes to the hyperactivation of the muscle catabolic processes auto...
We demonstrate a reduction of OA levels in different cell models of the disease. OA supplementation rescued disease-related phenotypes such as fusion index, myotube diameter, and repressed autophagy. ...
For the first time in DM1, we describe a fatty acid metabolism impairment that originated, at least in part, from a decrease in SCD1. Because OA allosterically inhibits MSI2 binding to molecular targe...