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
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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,
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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."
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"@type": "Question",
"name": "Les symptômes peuvent-ils varier selon les patients ?",
"position": 3,
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"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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"@type": "Question",
"name": "Peut-on diagnostiquer la myasthénie congénitale à la naissance ?",
"position": 5,
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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 ?",
"position": 7,
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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": {
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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,
"acceptedAnswer": {
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"@type": "Question",
"name": "La myasthénie congénitale affecte-t-elle tous les muscles ?",
"position": 10,
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{
"@type": "Question",
"name": "Peut-on prévenir la myasthénie congénitale ?",
"position": 11,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider à la prévention ?",
"position": 12,
"acceptedAnswer": {
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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."
}
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"@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": {
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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."
}
},
{
"@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" :
After significant early interest in aging and dying, recent empirical studies have been few and theoretically fragmented....
The aims of this review were to map what is empirically known about the intersections between existential aging (a sense of passing years that evoke a sense of nearness-to-death) and dying identity an...
Articles were reviewed employing PRISMA guidelines. Seven data bases were searched resulted in 165 records. Of these 165 records a final selection of 24 studies that met the criteria were examined....
Evidence from the review found that the formation of the identity of dying alongside existential aging was associated with personal changes related to self/gerotranscendence, self-concerns about the i...
These studies confirm the importance of nearness-to-death on identity formation and psychological change in older populations. However, most of the studies were quantitative and tested for pre-existin...
Globally, humanity is in the grip of the COVID-19 pandemic; thus, we question our individual, and collective, behaviours. Long periods of lockdown and ever-escalating death rates have found people ask...
This study aimed to describe health professionals' reflections on existential concerns among people with obesity when attempting to support them in their lifestyle change processes. For many of those ...
Eighteen health professionals with relevant health education working in three different treatment programmes for people with obesity were recruited for three focus group interviews. The interviews wer...
The analysis identified three themes. The health professionals reflected on existential concerns among people with obesity in terms of patients' repressed emotional difficulties and lack of self-respe...
The present study provides valuable insights into reflections on existential concerns among people with obesity, based on health professionals' descriptions. We believe that these insights add to the ...
In a recent study, we explored what kind of existential concerns patients with advanced cancer disclose during a routine hospital consultation and how they communicate such concerns. The current study...
We analyzed video-recorded hospital consultations involving adult patients with advanced cancer. The study has a qualitative and exploratory design, using procedures from microanalysis of face-to-face...
We identified 185 immediate physician-responses to the 127 patient existential utterances we had previously identified. The responses demonstrated three approaches: giving the patient control over the...
Although the physicians, to some extent, allowed the patients to talk freely about their concerns, they systematically failed to acknowledge and address the patients' existential concerns....
Physicians should be attentive to their possible habit of steering the agenda towards biomedical topics, hence, avoiding patients' existential concerns. Initiatives cultivating behavior enhancing pers...
We established the EXIstential health COhort DEnmark (EXICODE) to examine how existential and spiritual needs, practices and orientations in a secular culture are linked to health outcomes, illness tr...
EXICODE is a national cohort comprising a 10% random sample of the adult Danish population with individual-level register and survey data. Specific patient subgroups are oversampled to ensure diseased...
The project is registered for legal and GDPR concerns by the University of Southern Denmark, journal number: 10.367. Ethical approval was not required by Danish law since EXICODE collects only intervi...
This Special Issue, entitled "Positive and Existential Psychology in Times of Change: Towards Complex, Holistic, Systemic and Integrative Perspectives", addresses the urging questions and challenges o...
In a previous paper in Philos Ethics Humanit Med, the 1937 Swedish novel Sömnlös (Swedish for sleepless) by Vilhelm Moberg was used as background for a thought experiment, in which last century's prog...
In this follow-up paper, the theme of insomnia in Sömnlös is complemented by a discussion of the concept of nostalgia. The core of the paper is a theoretical discussion about the benefits and risks of...
Nostalgia is portrayed as being, in some sense at least, ultimately beneficial for the protagonist of Sömnlös. This is congruent with recent psychological research. However, the story also shows that ...
to develop a middle-range theory of the existential dimension of being-in-the-world of chronic kidney disease in the light of humanistic nursing theory....
exploratory-descriptive, qualitative, Grounded Theory study, whose guiding question was: what theoretical relationships can be established between clinical practice carried out in the context of renal...
a theory was developed that describes and explains the existential dimension of being-in-the-world of chronic kidney disease, identifying the qualitative evidence present in this context....
the theory contributes to clinical nursing practice qualification in nephrology, consolidating nursing as an art and science, because it arises from care practice and research, in addition to rescuing...
Existential loneliness is a feeling which stems from a sense of fundamental separation from others and the world. Although commonly mentioned in the loneliness literature, there is relatively little e...
A qualitative online survey collected data from 225 adults aged 16 to 72 years old. Participants were asked to write about their experiences of existential loneliness and how these experiences compare...
Of 225 participants, 51% knew the meaning of "existential loneliness" upon accessing the survey and in total, 83% had experienced existential loneliness. 93% of these participants had also experienced...
Existential loneliness is a deeply rooted and impactful form of loneliness which involves feelings of profound separateness. This aspect of loneliness is deserving of further attention. Future researc...
Psychedelic-assisted therapy refers to a group of therapeutic practices involving psychedelics taken under therapeutic supervision from physicians, psychologists, and others. It has been hypothesised ...
To assess the benefits and harms of psychedelic-assisted therapy compared to placebo or active comparators (e.g. antidepressants) for treatment of anxiety, depression, and existential distress in peop...
We searched CENTRAL, MEDLINE, Embase, and two trial registers on 30 March 2024. In addition, we undertook reference checking, citation searching, and contact with study authors to identify additional ...
We included randomised controlled trials (RCTs), with no restrictions regarding comorbidity, sex, or ethnicity. Interventions comprised a substance-induced psychedelic experience preceded by preparato...
We used the standard methodological procedures expected by Cochrane....
We included six studies in the review, which evaluated two different interventions: psychedelic-assisted therapy with classical psychedelics (psilocybin ('magic mushrooms') and lysergic acid diethylam...
Implications for practice Psychedelic-assisted therapy with classical psychedelics (psilocybin, LSD) may be effective for treating anxiety, depression, and possibly existential distress, in people fac...