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 :
Persistent Vegetative State
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 ?",
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"text": "Le diagnostic repose sur l'examen clinique, des tests électromyographiques et des analyses génétiques."
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},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour confirmer le diagnostic ?",
"position": 2,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les symptômes peuvent-ils varier selon les patients ?",
"position": 3,
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"@type": "Question",
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"name": "Peut-on diagnostiquer la myasthénie congénitale à la naissance ?",
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"@type": "Question",
"name": "Quels sont les symptômes principaux de la myasthénie congénitale ?",
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"@type": "Question",
"name": "Les symptômes peuvent-ils s'aggraver avec l'effort ?",
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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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"name": "Y a-t-il des symptômes oculaires associés ?",
"position": 8,
"acceptedAnswer": {
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"text": "Oui, des symptômes comme le ptosis (chute de la paupière) et la diplopie (vision double) peuvent survenir."
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"@type": "Question",
"name": "Les symptômes apparaissent-ils à un âge spécifique ?",
"position": 9,
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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": {
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"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,
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"@type": "Question",
"name": "Les conseils génétiques sont-ils recommandés ?",
"position": 13,
"acceptedAnswer": {
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"@type": "Question",
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"position": 14,
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"name": "Y a-t-il des mesures préventives pour les nouveau-nés ?",
"position": 15,
"acceptedAnswer": {
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"text": "Les nouveau-nés à risque peuvent nécessiter une surveillance précoce pour détecter des symptômes."
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{
"@type": "Question",
"name": "Quels traitements sont disponibles pour la myasthénie congénitale ?",
"position": 16,
"acceptedAnswer": {
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}
},
{
"@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."
}
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{
"@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."
}
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}
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}
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" :
A patient is diagnosed with the persistent vegetative state (PVS) when they show no evidence of the awareness of the self or the environment for an extended period of time. The chance of recovery of a...
At present, there is a wealth of literature that discusses the relevant neurology, that elucidates the plethora of ethical challenges in understanding and dealing with the condition, and that analyses...
I start from the very foundations, laying out a sentientist approach which serves as the basis for the consequent moral decision-making, and then proceed to systematically identify and deconstruct the...
A major intellectual contribution concerns the fluidity of the duty of care which I argue is demanded by the sentientist focus....
The said duty is shown initially to have for its object the patient, which depending on the circumstances, can change to the patient's kin, or the health care staff themselves....
In conclusion, the proposed framework represents the first comprehensive proposal regarding the decision-making processes involved in the deliberation on the provision of life sustaining treatment to ...
Persistently alive but unaware, vegetative state patients are stuck in the transition between life and death - that is, in a liminal hotspot. This condition raises complex ethical and legal dilemmas c...
The vegetative state (VS) after severe acute brain injury (SABI) is associated with significant prognostic uncertainty and poor long-term functional outcomes. However, it is generally distinguished fr...
A cross-sectional survey was undertaken, utilizing a self-reported online questionnaire based on a case vignette. Nationally selected by quota sampling, the GP comprised 500 individuals aged 20 to 69 ...
Two months after SABI in the case, 79% of the GP and 83.5% of clinicians had positive attitudes toward mechanical ventilator withdrawal. In the GP, attitudes were associated with spirituality, househo...
More than three quarters of both the GP and clinicians had positive opinions regarding ventilator withdrawal in patients in a VS after SABI, which was reinforced with time and the presence of AD. Legi...
Out-of-hospital cardiac arrest (OHCA) is one of the most dramatic events in pediatric age and, despite advanced neurointensive care, the survival rate remains low. Currently, no effective treatments c...
Three children with a chronic vegetative state secondary to OHCA were treated. The combined treatment with hr-NGF and tDCS improved functional (PET and SPECT) and electrophysiological (EEG and PSD) as...
These promising preliminary results and the ease of administration of this treatment make it worthwhile to be investigated further, mainly in the early stages from OHCA and in patients with better bas...
Detecting signs of residual neural activity in patients with altered states of consciousness is a crucial issue for the customization of neurorehabilitation treatments and clinical decision-making. Wi...
Persistent vegetative state often occurs as a result of traumatic brain injuries; these patients are usually hospitalized for sustained periods, and the family caregivers are the main care providers i...
This descriptive phenomenological study was carried out in 2019. Semi-structured interviews were done with 12 family caregivers caring for the patients in persistent vegetative state, hospitalized in ...
After analysis of 12 interviews, 5 themes, and 10 subthemes were extracted from 428 codes. Five themes include "uncountable struggles/challenges," "looking for peace," "therapeutic concerns," "preserv...
In this study, the family caregivers of the persistent vegetative state patients in the hospital experienced some challenges, and looked for peace by doing some work, for example, praying. They had so...
Decannulation for people in a persistent vegetative state (PVS) is challenging and relevant predictors of successful decannulation have yet to be identified....
This study aimed to explore the predictors of tracheostomy decannulation outcomes in individuals in PVS and to develop a nomogram....
In 2022, 872 people with tracheostomy in PVS were retrospectively enrolled and their data was randomly divided into a training set and a validation set in a 7:3 ratio. Univariate and multivariate regr...
Data from 610 to 262 individuals were used for the training and validation sets, respectively. The multivariate regression analysis found that duration of tracheostomy tube placement≥30 days (Odds Rat...
The nomogram can help adjust the treatment and reduce decannulation failure....
Clinical registration is not mandatory for retrospective studies....
Sensory stimulation in Snoezelen room increased responsiveness after brain injury and dementia....
To explore the physiological and clinical effects of Snoezelen stimulation in persons with unresponsive wakefulness syndrome or minimally conscious state (UWS or MCS)....
A comparative prospective observational cohort study....
Ten patients with UWS and 25 in MCS were exposed to consecutive stimuli involving the 5 senses in a Snoezelen room. Heart rate (HR) and cerebral blood flow velocity (CBFV), and scores of the Loewenste...
The stimuli increased HR values and decreased left hemisphere CBFV values in patients with MCS (p < 0.05). Stimulation increased LCS scores (from 28.48 ± 6.55 to 31.13 ± 7.14; p < 0.001) in patients w...
Snoezelen stimulation induced immediate improvement in communication and physiological changes in patients with MSC, and had a minor physiological effect in patients with UWS. If additional studies su...
The minimally conscious state (MCS) is a prolonged disorder of consciousness (pDoC) and one of the most severe outcomes of acquired brain injury. Prevalence data are scarce. The aim of this study was ...
This was a descriptive cross-sectional study in which all 86 Dutch hospitals, all 5 specialized pDoC rehabilitation facilities, and all 274 nursing homes were asked whether they were treating patients...
Seventy patients were reported to have a pDoC, of whom 6 were excluded. The level of consciousness was verified for 49 patients while for 15, it could not be verified. Of the patients verified, 38 had...
This nationwide study revealed a low prevalence of institutionalized patients in MCS in the Netherlands. These findings are now being used to organize pDoC care in this country....
The minimally conscious state (MCS) is a disorder of consciousness described in recent years for patients who have behavioral responses to stimuli that do not meet the classification of chronic vegeta...