Titre : Myasthénie congénitale

Myasthénie congénitale : Questions médicales fréquentes

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"datePublished": "2025-05-01", "inLanguage": "fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Myasthénie congénitale", "description": "Comment diagnostiquer la myasthénie congénitale ?\nQuels tests sont utilisés pour confirmer le diagnostic ?\nLes symptômes peuvent-ils varier selon les patients ?\nQuel rôle joue l'historique familial dans le diagnostic ?\nPeut-on diagnostiquer la myasthénie congénitale à la naissance ?", "url": "https://questionsmedicales.fr/mesh/D020941?page=1000#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Myasthénie congénitale", "description": "Quels sont les symptômes principaux de la myasthénie congénitale ?\nLes symptômes peuvent-ils s'aggraver avec l'effort ?\nY a-t-il des symptômes oculaires associés ?\nLes symptômes apparaissent-ils à un âge spécifique ?\nLa myasthénie congénitale affecte-t-elle tous les muscles ?", "url": "https://questionsmedicales.fr/mesh/D020941?page=1000#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Myasthénie congénitale", "description": "Peut-on prévenir la myasthénie congénitale ?\nLes tests génétiques peuvent-ils aider à la prévention ?\nLes conseils génétiques sont-ils recommandés ?\nLes femmes enceintes doivent-elles être surveillées ?\nY a-t-il des mesures préventives pour les nouveau-nés ?", "url": "https://questionsmedicales.fr/mesh/D020941?page=1000#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Myasthénie congénitale", "description": "Quels traitements sont disponibles pour la myasthénie congénitale ?\nLes médicaments peuvent-ils améliorer les symptômes ?\nLa thérapie physique est-elle recommandée ?\nLa chirurgie est-elle une option de traitement ?\nLes traitements sont-ils adaptés à tous les patients ?", "url": "https://questionsmedicales.fr/mesh/D020941?page=1000#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Myasthénie congénitale", "description": "Quelles complications peuvent survenir avec la myasthénie congénitale ?\nLes crises myasthéniques sont-elles graves ?\nComment prévenir les complications respiratoires ?\nLes problèmes de déglutition sont-ils fréquents ?\nLes complications peuvent-elles affecter la qualité de vie ?", "url": "https://questionsmedicales.fr/mesh/D020941?page=1000#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Myasthénie congénitale", "description": "Quels sont les facteurs de risque de la myasthénie congénitale ?\nLes antécédents familiaux augmentent-ils le risque ?\nLes mutations génétiques sont-elles un facteur déterminant ?\nLes anomalies congénitales sont-elles liées à la maladie ?\nLes facteurs environnementaux jouent-ils un rôle ?", "url": "https://questionsmedicales.fr/mesh/D020941?page=1000#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@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." } }, { "@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." } }, { "@type": "Question", "name": "Peut-on diagnostiquer la myasthénie congénitale à la naissance ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains cas peuvent être diagnostiqués dès la naissance par des signes cliniques." } }, { "@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." } }, { "@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." } }, { "@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": { "@type": "Answer", "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." } } ] } ] }

Sources (10000 au total)

Galacto-oligosaccharides fed during gestation increase Rotavirus A specific antibodies in sow colostrum, modulate the microbiome, and reduce infectivity in neonatal piglets in a commercial farm setting.

Rotavirus A is a major cause of acute dehydrating diarrhea in neonatal pigs resulting in significant mortality, morbidity, reduced performance and economic loss. Commercially available prebiotic galac... In a randomized controlled trial, control sows received lactation diet with no galacto-oligosaccharide supplementation and test sows received lactation diet with 30 g/day galacto-oligosaccharide top-d... Supplementation with galacto-oligosaccharides during gestation significantly increased rotavirus-specific IgG and IgA in sow colostrum and reduced the number of rotavirus positive piglet fecal samples... This study demonstrates that galacto-oligosaccharide supplementation during gestation significantly increases rotavirus specific IgG and IgA in sow colostrum thereby reducing neonatal rotavirus infect...

Clinical and laboratory findings to differentiate late-onset sepsis caused by Gram-negative vs Gram-positive bacteria among perterm neonates: A retrospective cohort study.

Late-onset sepsis (LOS) is a clinical condition that results in serious morbidity and mortality in preterm neonates. The aim of this study was to identify differences in clinical and laboratory findin... The retrospective cohort study included 649 preterm neonates with LOS assigned to either the Gram-positive group (n = 194, 29.89 %) or the Gram-negative group (n = 455, 70.11 %). Demographic data, ser... At T1, T2, and T3, serum CRP levels were higher (p < 0.001), while platelet (PTL) counts were significantly lower (p < 0.001) in the Gram-negative group vs Gram-positive group. The area under the curv... Neonatal LOS caused by Gram-negative bacteria was associated with higher CRP and lower PLT levels. These results suggested that PLT and CRP values may be useful biomarkers to differentiate sepsis caus...

Assessment of infant position and timing of stylet removal to improve lumbar puncture success in neonates (NeoCLEAR): an open-label, 2 × 2 factorial, randomised, controlled trial.

Newborn infants are the highest-risk age group for bacterial meningitis. Lumbar punctures are therefore frequently performed in neonates, but success rates are low (50-60%). In Neonatal Champagne Lumb... NeoCLEAR was an open-label, 2 × 2 factorial, randomised, controlled trial, conducted in 21 UK neonatal and maternity units. Infants requiring lumbar puncture at 27... Between Aug 3, 2018, and Aug 31, 2020, 1082 infants were randomly assigned to sitting (n=546) or lying (n=536), and early (n=549) or late (n=533) stylet removal. 1076 infants were followed-up until di... NeoCLEAR is the largest trial investigating paediatric lumbar puncture so far. Success rates were improved when sitting rather than lying. Sitting lumbar puncture is safe, cost neutral, and well toler... UK National Institute for Health and Care Research....

Music Therapy Intervention in an Open Bay Neonatal Intensive Care Unit Room Is Associated with Less Noise and Higher Signal to Noise Ratios: A Case-Control Study.

Noise reduction in the Neonatal Intensive Care Unit (NICU) is important for neurodevelopment, but the impact of music therapy on noise is not yet known.... To investigate the effect of music therapy (MT) on noise levels, and whether individual MT (IMT) or environmental MT (EMT) increases meaningful signal-to-noise ratios (SNR).... This case-control study was conducted in a level III NICU. Noise levels were recorded simultaneously from two open bay rooms, with a maximum of 10 infants in each room: one with MT and the other witho... Overall average equivalent continuous noise levels (Leq) were lower in the room with MT as compared to the room without MT (53.1 (3.6) vs. 61.4 (4.7) dBA,... Integrating MT modalities such as IMT and EMT in an open bay NICU room helps reduce noise. Both MT modalities resulted in higher SNR compared to the control room, which may indicate that they are mean...

First report of transfusing low-titer cold-stored type O whole blood to an extremely-low-birth-weight neonate after acute blood loss.

Multiple reports suggest that cold-stored low-titer type O whole blood (LTOWB) is becoming a preferred transfusion product for resuscitating massive hemorrhage across trauma, obstetrical, and pediatri... We report our experience with emergency transfusion of re-warmed LTOWB using a fluid warmer for the resuscitation of a hypotensive 25-week gestation neonate following acute and severe placental abrupt... This is the first report of which we are aware of transfusing warmed LTOWB to a preterm neonate. Our positive experience leads us to speculate that this product could have a role for neonates followin...

Risk of vertical transmission of SARS CoV-2 infection to neonates born to covid positive mothers: A pilot study from a tertiary care hospital of North India.

To assess the risk of neonatal SARS-CoV-2 infection born to the women with confirmed SARS-CoV-2 infection.... This prospective study was conducted at single tertiary hospital from September 2020 and May 2021. 50 pregnant women with confirmed SARS-CoV-2 infection and 50 neonates were included for analysis. We ... We detected SARS-CoV-2 in one fetal membrane and one amniotic fluid sample. We also demonstrated presence of anti-SARS-CoV-2 IgM antibodies in cord blood of 3 neonates. Though none of the samples of v... Vertical transmission of SARS-CoV-2 is possible. As virus was not detected in cervicovaginal secretions and breast milk so vertical transmission through this mechanism seems unlikely. Presence of IgG ...

Early neonatal mortality is modulated by gestational age, birthweight and fetal heart rate abnormalities in the low resource setting in Tanzania - a five year review 2015-2019.

Early Neonatal mortality (ENM) (< 7 days) remains a significant problem in low resource settings. Birth asphyxia (BA), prematurity and presumed infection contribute significantly to ENM. The study obj... Retrospective cohort study undertaken in a zonal referral teaching hospital located in Northern Tanzania. Labor and delivery room data were obtained from 2015 to 2019 and included BW, GA, fetal heart ... The overall early neonatal mortality rate (ENMR) was 18/1000 livebirths over the 5 years and did not change significantly comparing 2015 to 2019. Comparing year 2018 to 2019, the overall ENMR decrease... ENM rates were predominantly modulated by decreasing BW and GA, with smaller/ less mature newborns 10-fold more likely to die. ENM in term newborns was strongly associated with FHRT abnormalities and ...

Effectiveness and safety profile of introducing less invasive surfactant administration in management of respiratory distress syndrome: A retrospective cohort study in a tertiary neonatal unit in Hong Kong.

The objective was to evaluate the efficacy of introducing less invasive surfactant administration (LISA) for management of preterm neonates with respiratory distress syndrome (RDS).... This was a retrospective cohort study identifying preterm neonates with RDS born between 2017 and 2022 in a tertiary neonatal unit, where LISA was introduced in January 2020. Time trend analysis compa... In total, 261 neonates with RDS were included (114 born after LISA was introduced). Neonates receiving invasive surfactant administration had lower gestational age, birth weight, lower Apgar scores, a... Introduction of LISA was associated with improved prognosis in neonates with RDS in Hong Kong....