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": {
"@type": "Answer",
"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": {
"@type": "Answer",
"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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"text": "Oui, certains cas peuvent être diagnostiqués dès la naissance par des signes cliniques."
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{
"@type": "Question",
"name": "Quels sont les symptômes principaux de la myasthénie congénitale ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"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": {
"@type": "Answer",
"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."
}
},
{
"@type": "Question",
"name": "La myasthénie congénitale affecte-t-elle tous les muscles ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, elle affecte principalement les muscles volontaires, en particulier ceux des yeux et des membres."
}
},
{
"@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."
}
},
{
"@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."
}
},
{
"@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": {
"@type": "Answer",
"text": "Oui, une surveillance peut être nécessaire si des antécédents familiaux de myasthénie existent."
}
},
{
"@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 17/05/2025
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" :
The pectoralis major muscle is located in the anterior chest wall. In most cases, it is divided into clavicular, sternal (sternocostal) and abdominal heads. The aim of this study is to demonstrate and...
Classical anatomical dissection was performed on 35 human fetuses aged 18-38 weeks of gestation at death were examined. (17 female, and 18 male, 70 sides; fixed in 10% formalin solution). The fetuses ...
Five types of morphology (based on number of bellies) were observed in the fetuses. Type I was characterized by a single claviculosternal belly (10% of all samples). Type II comprised the clavicular a...
Due to its embryological development, the PM demonstrates great variability in the numbers of its parts. The most common type was the PM with two bellies, in line with previous studies which also dist...
Low muscle mass is associated with numerous adverse outcomes independent of other associated comorbid diseases. We aimed to predict and understand an individual's risk for developing low muscle mass u...
Computed tomography (CT) defined muscle mass can be used as a surrogate parameter for sarcopenia. The present study used thoracic CT to assess pectoralis muscle area and density as an imaging biomarke...
Overall, 981 patients (440 female, 44.9%) with a mean age of 63.5 ± 15.9 years were included into the study and 144 patients (14.6%) died within the 30-days period. Every pectoral muscle value was hig...
Parameters of the pectoralis musculature are associated with 30-day mortality in patients with acute PE. These findings should lead to an independent validation study and ultimately to the inclusion i...
Sarcopenia is associated with a poor prognosis in patients with breast cancer (BC). Currently, there are few quantitative assessments carried out between muscle biomarkers and distant metastasis using...
To assess the predictive value of the pectoralis muscle for BC distant metastasis, we developed a deep learning radiomics nomogram model (DLR-N) in this study....
A total of 493 patients with pathologically confirmed BC were registered. Image features were extracted from computed tomography (CT) images for each patient. Univariate and multivariate Cox regressio...
The developed DLR-N combined multiple radiomic features and clinicopathological factors and demonstrated excellent predictive performance. The C-index of the training cohort was 0.983 (95% confidence ...
DLR-N verified that there were biomarkers at the level of the fourth thoracic vertebra (T4) that affected distant metastasis. Multimodal prediction models based on deep learning could be a potential m...
Physiological and prognostic associations of centrilobular emphysema (CLE) and paraseptal emphysema (PSE) in smokers with and without chronic obstructive pulmonary disease (COPD) have been increasingl...
The aim of the study was to investigate whether CLE was associated with extrapulmonary abnormalities independent of concomitant PSE in smokers without airflow limitation....
This retrospective study consecutively enrolled current smokers without airflow limitation who underwent lung cancer screening with computed tomography and spirometry. CLE and PSE were visually identi...
Of 310 current smokers without airflow limitation, 83 (26.8%) had CLE. The PSE prevalence was higher (67.5% vs. 23.3%), and PM area, SAT area, and BMD were lower in smokers with CLE than in those with...
The observed association between CLE and lower PM area suggests that susceptibility to skeletal muscle loss could be high in smokers with CLE even without COPD....
We aimed to investigate whether sarcopenia measured from pectoralis muscles is a risk factor for long-term mortality in left ventricular assist device patients....
Patients aged >18 years implanted with a left ventricular assist device in a single center between 2013 and 2019 were retrospectively included. Patients without a thoracic computed tomography scan per...
The study was conducted on 64 left ventricular assist device patients who met the inclusion criteria. Notably, 21 (32.8%) of the study patients were sarcopenic. Diabetes mellitus and sarcopenia were m...
Sarcopenia defined by low pectoralis muscle index increases the risk for 2-year mortality in left ventricular assist device patients....
To investigate the possible relationship between pectoralis muscle (PM) measurement and frailty in older women with breast cancer (BC) (preoperatively defined as stage 1, 2, and 3 diseases)....
This retrospective, observational study was conducted at Konya Training and Research Hospital between June and December 2020. A total of 102 patients [median age 62.5 years, median follow-up period tw...
The nonrobust patients had lower pectoralis major muscle index (PMaMI) (p = 0.041) and pectoralis major muscle density(PMaD) (p = 0.020) levels than robust patients in the whole study sample. PMI (p =...
In the study, it has been shown that pectoralis muscle assessment might be a related parameter to frailty in older women with breast cancer....
Pectoralis Major ruptures normally occur in activities and sports such as powerlifting and American football or rugby. It is a rarely reported phenomena in professional footballers. Surgery is normall...
A 27-year-old professional footballer sustained a left pectoralis major rupture after falling to the floor. A subsequent MRI reported a 5cm retraction of the pectoralis major tendon from its attachmen...
This case study demonstrates a successful return to professional football following a pectoralis major rupture and supports the notion that surgical repair of these injuries produces a favourable outc...
We report the case of a healthy 17-year-old female softball player with a subacute full-thickness intramuscular tear of the pectoralis major (PM) muscle. A successful muscle repair was obtained using ...
Despite initially being a rare injury pattern, the incidence of PM muscle rupture is likely to increase as interest in sports and weight training increases, and although this injury pattern is more co...
To explore the association between CT-derived pectoralis muscle index (PMI) and COVID-19 induced lung injury....
We enrolled 116 elderly COVID-19 patients linked to the COVID-19 outbreak in Nanjing Lukou international airport. We extracted three sessions of their CT data, including one upon admission (T1), one d...
The maximum CT scores in low PMI patients were higher than those of normal PMI patients, including CTSS1 (7, IQR 6-10 vs. 5, IQR 3-6, p < 0.001), CTSS2 (8, IQR 7-11 vs. 5, IQR 4-7, p < 0.001) and POS ...
PMI can be easily assessed on chest CT images and can potentially be used as one of the markers to predict the severity of lung injury in elderly COVID-19 patients....