questionsmedicales.fr
Maladies du système immunitaire
Maladies auto-immunes
Maladies auto-immunes du système nerveux
Myasthénie
Myasthénie congénitale
Myasthénie congénitale : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Myasthénie congénitale
Électromyographie
Myasthénie congénitale
Tests génétiques
Myasthénie congénitale
Symptômes
Myasthénie congénitale
Antécédents familiaux
Myasthénie congénitale
Nouveau-né
Symptômes
5
Myasthénie congénitale
Faiblesse musculaire
Myasthénie congénitale
Fatigue
Myasthénie congénitale
Ptosis
Myasthénie congénitale
Enfance
Myasthénie congénitale
Muscles
Prévention
5
Myasthénie congénitale
Prévention
Myasthénie congénitale
Tests génétiques
Myasthénie congénitale
Conseils génétiques
Myasthénie congénitale
Grossesse
Myasthénie congénitale
Nouveau-né
Traitements
5
Myasthénie congénitale
Traitement
Myasthénie congénitale
Inhibiteurs de la cholinestérase
Myasthénie congénitale
Thérapie physique
Myasthénie congénitale
Chirurgie
Myasthénie congénitale
Individualisation du traitement
Complications
5
Myasthénie congénitale
Complications
Myasthénie congénitale
Crises myasthéniques
Myasthénie congénitale
Infections respiratoires
Myasthénie congénitale
Déglutition
Myasthénie congénitale
Qualité de vie
Facteurs de risque
5
Myasthénie congénitale
Facteurs de risque
Myasthénie congénitale
Antécédents familiaux
Myasthénie congénitale
Mutations génétiques
Myasthénie congénitale
Anomalies congénitales
Myasthénie congénitale
Facteurs environnementaux
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"@type": "Question",
"name": "Comment diagnostiquer la myasthénie congénitale ?",
"position": 1,
"acceptedAnswer": {
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"text": "Le diagnostic repose sur l'examen clinique, des tests électromyographiques et des analyses génétiques."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour confirmer le diagnostic ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests incluent l'électromyographie, le test de stimulation répétée et des tests génétiques."
}
},
{
"@type": "Question",
"name": "Les symptômes peuvent-ils varier selon les patients ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la gravité et la nature des symptômes peuvent varier d'un patient à l'autre."
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"@type": "Question",
"name": "Quel rôle joue l'historique familial dans le diagnostic ?",
"position": 4,
"acceptedAnswer": {
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"text": "Un historique familial de myasthénie peut orienter le diagnostic vers une forme congénitale."
}
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{
"@type": "Question",
"name": "Peut-on diagnostiquer la myasthénie congénitale à la naissance ?",
"position": 5,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Quels sont les symptômes principaux de la myasthénie congénitale ?",
"position": 6,
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"text": "Les symptômes incluent une faiblesse musculaire, des difficultés à bouger et une fatigue rapide."
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{
"@type": "Question",
"name": "Les symptômes peuvent-ils s'aggraver avec l'effort ?",
"position": 7,
"acceptedAnswer": {
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"text": "Oui, les symptômes tendent à s'aggraver avec l'effort et s'améliorent avec le repos."
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"@type": "Question",
"name": "Y a-t-il des symptômes oculaires associés ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des symptômes comme le ptosis (chute de la paupière) et la diplopie (vision double) peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les symptômes apparaissent-ils à un âge spécifique ?",
"position": 9,
"acceptedAnswer": {
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"text": "Les symptômes peuvent apparaître dès la naissance ou se manifester plus tard dans l'enfance."
}
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{
"@type": "Question",
"name": "La myasthénie congénitale affecte-t-elle tous les muscles ?",
"position": 10,
"acceptedAnswer": {
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"text": "Non, elle affecte principalement les muscles volontaires, en particulier ceux des yeux et des membres."
}
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{
"@type": "Question",
"name": "Peut-on prévenir la myasthénie congénitale ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Étant une maladie génétique, il n'existe pas de méthode de prévention connue."
}
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{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider à la prévention ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent identifier les porteurs et informer les décisions reproductives."
}
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{
"@type": "Question",
"name": "Les conseils génétiques sont-ils recommandés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les conseils génétiques peuvent aider les familles à comprendre les risques de transmission."
}
},
{
"@type": "Question",
"name": "Les femmes enceintes doivent-elles être surveillées ?",
"position": 14,
"acceptedAnswer": {
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"text": "Oui, une surveillance peut être nécessaire si des antécédents familiaux de myasthénie existent."
}
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{
"@type": "Question",
"name": "Y a-t-il des mesures préventives pour les nouveau-nés ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les nouveau-nés à risque peuvent nécessiter une surveillance précoce pour détecter des symptômes."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour la myasthénie congénitale ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent des médicaments, la thérapie physique et parfois la chirurgie."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils améliorer les symptômes ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des médicaments comme les inhibiteurs de la cholinestérase peuvent améliorer la transmission neuromusculaire."
}
},
{
"@type": "Question",
"name": "La thérapie physique est-elle recommandée ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la thérapie physique peut aider à maintenir la force musculaire et la fonction."
}
},
{
"@type": "Question",
"name": "La chirurgie est-elle une option de traitement ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Dans certains cas, la chirurgie pour retirer le thymus peut être bénéfique."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils adaptés à tous les patients ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements doivent être individualisés en fonction de la gravité et des symptômes du patient."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec la myasthénie congénitale ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des crises myasthéniques, des infections respiratoires et des problèmes de déglutition."
}
},
{
"@type": "Question",
"name": "Les crises myasthéniques sont-elles graves ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les crises peuvent entraîner une faiblesse musculaire sévère et nécessiter une intervention médicale urgente."
}
},
{
"@type": "Question",
"name": "Comment prévenir les complications respiratoires ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une surveillance étroite et un traitement précoce des infections peuvent aider à prévenir ces complications."
}
},
{
"@type": "Question",
"name": "Les problèmes de déglutition sont-ils fréquents ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les problèmes de déglutition peuvent survenir et nécessiter une évaluation par un spécialiste."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles affecter la qualité de vie ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque de la myasthénie congénitale ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des mutations génétiques et des anomalies congénitales."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux augmentent-ils le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un historique familial de myasthénie congénitale augmente le risque de développer la maladie."
}
},
{
"@type": "Question",
"name": "Les mutations génétiques sont-elles un facteur déterminant ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des mutations dans des gènes spécifiques sont souvent responsables de la myasthénie congénitale."
}
},
{
"@type": "Question",
"name": "Les anomalies congénitales sont-elles liées à la maladie ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines anomalies congénitales peuvent être associées à un risque accru de myasthénie congénitale."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, les facteurs environnementaux ne sont pas considérés comme des contributeurs significatifs."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 16/02/2025
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Department of Clinical Medicine, University of Bergen, Bergen, Norway. nils.gilhus@uib.no.
Department of Neurology, Haukeland University Hospital, Bergen, Norway. nils.gilhus@uib.no.
Publications dans "Myasthénie congénitale" :
4 publications dans cette catégorie
Publications dans "Myasthénie congénitale" :
4 publications dans cette catégorie
Affiliations :
Department of Neurology and Rehabilitation Medicine and.
Publications dans "Myasthénie congénitale" :
3 publications dans cette catégorie
Affiliations :
Department of Biostatistics, University of Alabama at Birmingham, Birmingham, Alabama.
Publications dans "Myasthénie congénitale" :
3 publications dans cette catégorie
Affiliations :
Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Publications dans "Myasthénie congénitale" :
3 publications dans cette catégorie
Affiliations :
Neuroimmunology and Neuromuscular Disease Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Duke University School of Medicine, Durham, NC, United States.
Duke Clinical Research Institute, Durham, NC, United States.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Istituto di Neurologia, Fondazione Policlinico A. Gemelli, IRCCS, Rome, Italy.
Università Cattolica del Sacro Cuore, Rome, Italy.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Nuffield Department of Clinical Neurosciences, University of Oxford, Hospitals Trust, Oxford, UK.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY, United States.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Buyanov City Clinical Hospital, Moscow, Russia.
Scientific and Practical Psychoneurological Center, Moscow, Russia.
Pirogov Russian National Research Medical University, Moscow, Russia.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Division of Neurology, Department of Medicine, University Health Network and University of Toronto, Ontario, Canada.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, University Hospitals Birmingham, Birmingham, B15 2TH, UK.
Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, B15 2TT, UK.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, The University of Chicago Medical Center, Chicago, IL 60637, USA.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, The University of Chicago Medical Center, Chicago, IL 60637, USA.
Publications dans "Myasthénie congénitale" :
2 publications dans cette catégorie
Publications dans "Myasthénie congénitale" :
Less invasive endoscopic bariatric procedures are under development for the management of class I of obesity. The purpose of our study is to evaluate the safety of endoscopic sleeve gastroplasty (ESG)...
This is a retrospective single-center study over 191 patients using the ESG under general anesthesia with overnight inpatient observation between January 2019 and December 2020. The analyzed variables...
A total of 191 patients underwent ESG for primary obesity. There were 173 female (90.6%) with a mean age of 36.9 years. The mean BMI was 33.7 kg/m...
Endoscopic gastroplasty represents a safe minimal invasive approach with the new device OverStitch Sx™ that can be considered an effective and well-tolerated procedure especially for primary obesity t...
We sought to compare the effect of applying a 5-mm endoscope and a 10-mm endoscope in the transoral endoscopic thyroidectomy vestibular approach (TOETVA) and to clarify the advantages of using a 5-mm ...
A retrospective analysis of the clinical data of 135 patients who were diagnosed with papillary thyroid carcinoma and who had undergone TOETVA in the thyroid disease center of The First Affiliated Hos...
Compared with the 10-mm endoscope group, the 5-mm endoscope group had less surgical trauma, less injury to the mandibular muscles (orbicularis oris, depressor labii inferioris, and mentalis muscle), s...
The application of a 5-mm endoscope not only improves the cosmetic effect of TOETVA but also reduces the degree of surgical trauma, saves the surgical space, improves the surgical efficiency, and redu...
Colorectal endoscopic submucosal dissection is technically demanding, and the traction offered by gravity, cap, or clip-with-line during conventional endoscopic submucosal dissection remains unsatisfa...
This study aimed to test the novel double-scope endoscopic submucosal dissection with snare-based traction....
This was a retrospective study that reviewed double-scope endoscopic submucosal dissection compared with matched conventional endoscopic submucosal dissection, and size, location, morphology, and path...
This study was conducted in a referral endoscopy center in a local hospital....
This study included patients with colorectal lesions receiving double-scope endoscopic submucosal dissection and matched conventional endoscopic submucosal dissection....
The pathological completeness, procedure time, and complications were analyzed....
Fifteen double-scope endoscopic submucosal dissection procedures, with 11 lesions located in the proximal colon with a median size of 40 mm, were performed. The median procedure time of double-scope e...
This was a single-center, single-operator, retrospective case-controlled study with limited cases....
This study confirmed the feasibility of double-scope endoscopic submucosal dissection with snare-based traction to shorten procedure time and to simplify endoscopic submucosal dissection. Additional t...
Effective drying of the internal channels of endoscopes is essential to prevent the growth of water-borne pathogens and to assure adequate sterilization with vaporized hydrogen peroxide or ethylene ox...
Stripped endoscopes (SE) that allow for visual inspection of the inside channels were reprocessed per protocol in a large urban medical center, with a 3-minute or 10-minute air flush following reproce...
All SE were grossly wet after HLD with a 3-minute air flush, despite alcohol flush and drying cycle. The 10-minute air flush was effective at drying the biopsy/suction channel, but not the air/water c...
Air flush cycles commonly used in the final steps of automated endoscope reprocessing may not adequately dry endoscope channels, particularly the narrower diameter air/water channels. An extended 10-m...
Endoscopy was first employed in the surgical treatment of neurosurgical diseases early in the twentieth century, but did not become an established practice for a long time, mainly because of poor tech...
The expansion of ventricular endoscopy has led to significant understanding of CSF disorders. Aqueduct stenosis as cause of hydrocephalus and arachnoid cysts are an example of pathologies, the concept...
We should always remember that the endoscope is only a tool. Its use has indications and limitations related to its design and our ability to extract the maximum, in the context of its shortcomings. F...
One of the main difficulties in third ventricle surgery is its deep and central location within the brain, surrounded by many eloquent neurovascular structures. Such anatomical environment obviously m...
The introduction of the surgical microscope into the neurosurgical field undoubtedly played an important and pivotal role in improving the surgical results and increasing the safety of operations in a...
In this collection on purely endoscopic and endoscope-assisted approaches to lesions of the third ventricle in pediatric age, the readership is presented with a selected group of these operations perf...
This statement was written under the auspices of the World Gastroenterology Organization's Guidelines Committee. The authors are members of the Review Team of the WGO Endoscope Disinfection Guideline ...
Endoscopic spine surgery (ESS) advances the principles of minimally invasive surgery, including minor collateral tissue damage, reduced blood loss, and faster recovery times. ESS allows for direct acc...
Philipp Bozzini, a German army surgeon, in 1807 invented the Lichtleiter, the predecessor of the modern cystoscope. By the mid-1800s, several new instruments were created including one, a variation on...
We researched the life of Philip Wales and the description of his cystoscope as well as Horatio Kern, the instrument maker that produced Wales' instrument. We examined the Wales cystoscope acquired by...
Philip Skinner Wales (1837-1906) was a surgeon who entered the United States Navy in 1856 and served throughout the Civil War. He organized and held charge of the Naval Hospital at New Orleans during ...
The Wales endoscope is unique in that it had an American inventor, was simple in design and cheap to produce. It is an important historical artifact and is one of the earliest and rarest cystoscopes d...
In colonoscopy, it is desirable to accurately localize the position of the endoscope's distal tip. Current tip localization techniques are not sufficient for recording the position and movement of the...
A dual modality tracking method is developed to measure the motion of the endoscope's insertion tube in real time, including insertion length, rotation angle, and their velocities. Optical trackballs ...
The accuracy of insertion length and rotational angle were measured. For speeds ≤ 10 mm/s, the median and 90th percentile insertion position errors were 0.88 mm and 2.2 mm, respectively. The insertion...
The prototype device can precisely measure an unmodified endoscope's position, rotation, and motion in real time without significant accumulative error. The prototype device is small and compatible wi...