questionsmedicales.fr
Maladies du système nerveux
Maladies neuromusculaires
Maladies musculaires
Troubles myotoniques
Troubles myotoniques : Questions médicales fréquentes
Diagnostic
5
Troubles myotoniques
Électromyographie
Tests génétiques
Myotonie
Myotonie
Faiblesse musculaire
Hérédité
Troubles myotoniques
Électromyographie
Myotonie
Symptômes
5
Myotonie
Variabilité des symptômes
Muscles squelettiques
Muscles respiratoires
Troubles cardiaques
Système endocrinien
Évolution des symptômes
Âge
Prévention
5
Tests génétiques
Risques héréditaires
Conseils génétiques
Troubles myotoniques
Soutien
Ressources éducatives
Mode de vie sain
Qualité de vie
Traitements
5
Traitements
Anticonvulsivants
Physiothérapie
Force musculaire
Traitement symptomatique
Troubles myotoniques
Personnalisation des traitements
Symptômes
Complications
5
Complications
Troubles respiratoires
Arythmies
Troubles cardiaques
Chutes
Faiblesse musculaire
Suivi médical
Gestion des complications
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Facteurs environnementaux
Risque
Maladies neuromusculaires
Risque
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{
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"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests pour identifier des mutations dans les gènes associés, comme DMPK ou CNBP."
}
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{
"@type": "Question",
"name": "Quels signes cliniques indiquent un trouble myotonique ?",
"position": 3,
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{
"@type": "Question",
"name": "Les troubles myotoniques sont-ils héréditaires ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, plusieurs formes sont héréditaires, souvent transmises de manière autosomique dominante."
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"@type": "Question",
"name": "Quelle est l'importance de l'électromyographie ?",
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"name": "Quels sont les symptômes principaux des troubles myotoniques ?",
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"position": 7,
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"position": 8,
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"position": 9,
"acceptedAnswer": {
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"text": "Oui, des symptômes peuvent inclure des troubles cardiaques et endocriniens."
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"@type": "Question",
"name": "Les symptômes évoluent-ils avec l'âge ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent s'aggraver avec l'âge et varier d'une personne à l'autre."
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{
"@type": "Question",
"name": "Peut-on prévenir les troubles myotoniques ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de méthode de prévention, car ils sont souvent héréditaires."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent identifier les porteurs de mutations et informer sur les risques."
}
},
{
"@type": "Question",
"name": "Les conseils génétiques sont-ils recommandés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils sont conseillés pour les familles à risque de troubles myotoniques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des mesures de soutien ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des groupes de soutien et des ressources éducatives peuvent aider les familles."
}
},
{
"@type": "Question",
"name": "Les habitudes de vie peuvent-elles aider ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Adopter un mode de vie sain peut améliorer la qualité de vie, mais ne prévient pas la maladie."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour les troubles myotoniques ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent des médicaments comme les anticonvulsivants et la physiothérapie."
}
},
{
"@type": "Question",
"name": "La physiothérapie est-elle bénéfique ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle aide à améliorer la force musculaire et la flexibilité."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils réduire la myotonie ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des médicaments comme la mexilétine peuvent aider à réduire la myotonie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements curatifs ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de traitement curatif, seulement des traitements symptomatiques."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils personnalisés ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les traitements sont souvent adaptés en fonction des symptômes et de la gravité."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications incluent des troubles respiratoires, cardiaques et des chutes."
}
},
{
"@type": "Question",
"name": "Les troubles cardiaques sont-ils fréquents ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des arythmies cardiaques peuvent survenir chez certains patients."
}
},
{
"@type": "Question",
"name": "Les troubles myotoniques affectent-ils la vie quotidienne ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent limiter les activités quotidiennes et la mobilité."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de chutes ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la faiblesse musculaire et la myotonie augmentent le risque de chutes."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être gérées ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi médical régulier peut aider à gérer les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque des troubles myotoniques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux et certaines mutations génétiques sont des facteurs de risque."
}
},
{
"@type": "Question",
"name": "L'âge influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le risque peut augmenter avec l'âge, surtout pour les formes tardives."
}
},
{
"@type": "Question",
"name": "Les femmes sont-elles plus à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les troubles myotoniques affectent les hommes et les femmes de manière égale."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'y a pas de preuves solides que des facteurs environnementaux influencent le risque."
}
},
{
"@type": "Question",
"name": "Les maladies associées augmentent-elles le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines maladies neuromusculaires peuvent coexister, mais ne sont pas des facteurs de risque directs."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 25/12/2025
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 "Troubles myotoniques" :
4 publications dans cette catégorie
Affiliations :
National Hospital for Neurology and Neurosurgery, University College London Hospital, London, United Kingdom.
Publications dans "Troubles myotoniques" :
4 publications dans cette catégorie
Affiliations :
National Hospital for Neurology and Neurosurgery, University College London Hospital, London, United Kingdom.
Publications dans "Troubles myotoniques" :
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 "Troubles myotoniques" :
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 "Troubles myotoniques" :
3 publications dans cette catégorie
Affiliations :
Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, Paris, France.
Publications dans "Troubles myotoniques" :
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 "Troubles myotoniques" :
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 "Troubles myotoniques" :
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 "Troubles myotoniques" :
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 "Troubles myotoniques" :
2 publications dans cette catégorie
Affiliations :
APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France.
Publications dans "Troubles myotoniques" :
2 publications dans cette catégorie
Affiliations :
Department of Clinical and Experimental Medicine, Neurology Unit, University of Pisa, Pisa, Italy.
Publications dans "Troubles myotoniques" :
2 publications dans cette catégorie
Affiliations :
Department of Clinical and Experimental Medicine, Neurology Unit, University of Pisa, Pisa, Italy.
Publications dans "Troubles myotoniques" :
2 publications dans cette catégorie
Affiliations :
Department of Clinical and Experimental Medicine, Neurology Unit, University of Pisa, Pisa, Italy.
Publications dans "Troubles myotoniques" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology National Hospital Organization Aomori National Hospital Aomori Japan.
Publications dans "Troubles myotoniques" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology National Hospital Organization Suzuka National Hospital Suzuka Japan.
Publications dans "Troubles myotoniques" :
2 publications dans cette catégorie
Affiliations :
Department of Functional Diagnostic Science Osaka University Graduate School of Medicine Suita Japan.
Publications dans "Troubles myotoniques" :
2 publications dans cette catégorie
Publications dans "Troubles myotoniques" :
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 "Troubles myotoniques" :
2 publications dans cette catégorie
Affiliations :
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Publications dans "Troubles myotoniques" :
Cognitive deficits and abnormal cognitive aging have been associated with Myotonic dystrophy type 1 (DM1), but the knowledge of the extent and progression of decline is limited. The aim of this study ...
Myotonic dystrophy type 1 is an autosomal dominant, inherited multiorgan disorder that can affect people of all ages. It is the most prevalent inherited muscular disease in adults. Late diagnosis poin...
There is a high prevalence of neuropsychiatric disorders in myotonic dystrophy types 1 and 2 (DM1 and DM2), including autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD)...
Myotonic dystrophy (DM) is the most common muscular dystrophy in adults. Dominantly inherited CTG and CCTG repeat expansions in...
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...
Electrodiagnostic testing is an important screening test for myotonic dystrophy type 1 (DM1). Although myotonic discharges are observed on electromyography in cases of DM1, it is difficult to distingu...
Data from 33 patients with myotonic discharges on electromyography were analyzed retrospectively. According to gene testing, the patients were divided into DM1 (n = 20) and non-DM1 myotonia (n = 13) g...
Afterdischarges were observed in 17 of the 20 patients with DM1, with an occurrence rate of approximately 85%. However, afterdischarges were absent in all patients with non-DM1 myotonia. There were si...
Afterdischarges may serve as a suggestive role in clinical diagnosis of DM1. The discovery that DM1 can present with afterdischarges may pave a new way to study the pathogenesis of DM1....
Myotonic disorders, such as non-dystrophic myotonias (NDMs) and myotonic dystrophies (DMs) are characterized by a delay in muscle relaxation after a contraction stimulus. There is general consensus th...
Mexiletine is the only pharmacological agent approved for the symptomatic treatment of myotonia in adult patients with NDM and is considered to be the first-line treatment for DMs; however, its produc...
A panel of 8 Italian neurologists took part in a two-round Delphi panel between June and October 2022, analyzing the current use of mexiletine in Italian clinical practice....
The panelists assist 1126 patients (69% DM type1, 18% NDM and 13% DM type2). Adult NDM patients receive, on average, 400-600 mg of mexiletine hydrochloride (HCl) while adult DM patients receive 100-60...
Mexiletine treatment is recognized to have a role in the reduction of the symptomatic burden for NDM and DM patients. Patient management could be improved by facilitating access to therapy and develop...
Myotonic dystrophy is a multisystem disorder characterized by widespread organic involvement including central nervous system symptoms. Although myotonic dystrophy disease types 1 (DM1) and 2 (DM2) co...
MRI scans were obtained from 29 DM1, 27 DM2, and 56 HC. We assessed macro- and microstructural brain changes by surface-based analysis of cortical thickness of anatomical images and tract-based spatia...
Cortical thickness was reduced in both patient groups compared to HC, showing similar patterns of regional distribution in DM1 and DM2 (occipital, temporal, frontal) but more pronounced cortical thinn...
Comparisons between DM1 and DM2 indicate a more pronounced cortical thinning of grey matter and a widespread reduction in microstructural integrity of white matter in DM1. Future studies are required ...
Myotonic dystrophy type 1 (DM1) involves misregulated alternative splicing for specific genes. We used exon or nucleotide deletion to mimic altered splicing of genes central to muscle excitation-contr...
To describe the neurobehavioral phenotype of congenital myotonic dystrophy. Congenital myotonic dystrophy (CDM) is the most severe form of myotonic dystrophy, characterized by symptom presentation at ...
The neurobehavioral phenotype was assessed in this cross-sectional study by a neuropsychological battery consisting of the Wechsler Preschool and Primary Scale of Intelligence, Third Edition, Weschler...
Fifty-five children with CDM, ages 5 weeks to 14 years, were enrolled. The mean age and (CTG)...
Depressed IQ, adaptive skills, and executive functioning, poor sleep quality, and features of autism and altered social functioning individually describe different aspects of the neurobehavioral pheno...