Titre : Myasthénie congénitale

Myasthénie congénitale : Questions médicales fréquentes

Termes MeSH sélectionnés :

Cognition
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naissance ?", "url": "https://questionsmedicales.fr/mesh/D020941?mesh_terms=Cognition&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?mesh_terms=Cognition&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?mesh_terms=Cognition&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?mesh_terms=Cognition&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?mesh_terms=Cognition&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?mesh_terms=Cognition&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)

Detection of neurophysiological markers of cognitive reserve: an EEG study.

Cognitive reserve (CR) is a property of the brain that allows for better-than-expected cognitive performance relative to the degree of brain change over the course of life. However, neurophysiological... Participants were recruited as part of the National Center for Geriatrics and Gerontology-Study of Geriatric Syndromes. Hippocampal volume was determined using magnetic MRI, and episodic memory was me... A total of 449 participants were included in this study. Our analysis revealed significant moderation of DAN with a slope of β = -0.00012 (95% CI: -0.00024; -0.00001,... Our results suggest that attentional networks help to maintain memory performance in the face of age-related structural decline, meeting the criteria for the neural implementation of cognitive reserve...

Predictors of Response to Cognitive Behavioral Therapy in Patients With Tinnitus.

Clinical guidelines recommend cognitive behavioral therapy (CBT) as a treatment for tinnitus. However, patient response to CBT is variable, and currently, there are no known predictors of response to ... To identify the clinical predictors of patient response to CBT for treatment of tinnitus.... This was a secondary cohort analysis of a single-arm clinical study including adults with chronic bothersome tinnitus recruited from Washington University School of Medicine in St Louis (Missouri) fro... Response to CBT was predefined as a 13-point or greater decrease in the Tinnitus Functional Index (TFI) survey score.... The study sample included 88 adult patients (median [IQR] age, 59 [49-66] years; 47 [53%] females and 41 [47%] males) with chronic bothersome tinnitus, of whom 53 (60%) had at least 13-point decrease ... The findings of this study show that assessment of bother and anxiety levels in patients with tinnitus may be useful for identifying those who are more likely to respond to CBT. Before incorporation i...

Visual Electroencephalography Assessment in the Diagnosis and Prognosis of Cognitive Disorders.

Electroencephalography (EEG) is a noninvasive diagnostic tool that can be of diagnostic value in patients with cognitive disorders. In recent years, increasing emphasis has been on quantitative EEG an... Patients with cognitive disorders from a specialized memory clinic cohort underwent routine workup including EEG, neuropsychological testing and brain imaging. Electroencephalography parameters includ... A total of 501 patients were included and underwent full diagnostic workup. One hundred eighty-three patients had dementia (111 Alzheimer disease, 30 vascular dementia, 15 frontotemporal dementia, and... Visual EEG assessment has diagnostic and prognostic value in clinical practice to distinguish patients with memory complaints without underlying neurologic disorder from patients with mild cognitive i...

Association of Vestibular Disorders and Cognitive Function: A Systematic Review.

The purpose of this study is to consolidate and condense the available evidence about the potential association between vestibular diseases and cognitive impairment.... A systematic search was conducted on four English databases (PubMed, Embase, Web of Science, Cochrane Library) from the time of library construction to March 2024. The study incorporated various keywo... A total of 45 publications were incorporated, encompassing prevalent vestibular disorders, mostly targeting individuals in the middle-aged and older demographic. The findings indicate that individuals... The findings of this comprehensive review indicate that vestibular disorders can result in impairments across various aspects of cognitive functioning, particularly in visuospatial cognition. The unde... NA Laryngoscope, 2024....

Cognitive function in adolescence and the risk of early-onset stroke.

Stroke is increasingly prevalent at younger ages but the risk factors are uncertain. We examined the association between adolescent cognitive function and early-onset stroke.... This was a nationwide population-based cohort study of 1 741 345 Israeli adolescents (42% women) who underwent comprehensive cognitive function tests at age 16-20 years, before mandatory military serv... During 8 689 329 person-years of follow-up, up to a maximum age of 50 years, 908 first stroke events occurred (767 ischaemic and 141 haemorrhagic). Compared with a reference group of people with high ... Alongside adolescent obesity and hypertension, lower cognitive function may be a risk factor for early-onset stroke....

Cognitive aids used in simulated resuscitation: A systematic review.

To compare the effectiveness of cognitive aid use during resuscitation with no use of cognitive aids on cardiopulmonary resuscitation quality and performance.... This systematic review followed the PICOST format. All randomised controlled trials and non-randomised studies evaluating cognitive aid use during (simulated) resuscitation were included in any settin... The literature search identified 5029 citations. After removing 512 duplicates, reviewing the titles and abstracts of the remaining articles yielded 103 articles for full-text review. Hand-searching i... Because of the very low certainty evidence from simulation studies, we suggest that cognitive aids should be used by healthcare professionals during resuscitation. In contrast, we do not suggest use o...