Titre : Myasthénie congénitale

Myasthénie congénitale : Questions médicales fréquentes

Termes MeSH sélectionnés :

Young Adult
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?\nPeut-on diagnostiquer la myasthénie congénitale à la naissance ?", "url": "https://questionsmedicales.fr/mesh/D020941?mesh_terms=Young+Adult&page=5#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=Young+Adult&page=5#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=Young+Adult&page=5#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=Young+Adult&page=5#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=Young+Adult&page=5#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=Young+Adult&page=5#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)

Coronary artery calcium testing in young adults.

To provide a summary of recent literature on coronary artery calcium testing (CAC) for risk stratification in young adults <45 years old.... One of every ten young adults in the general population, and one out of every three young adults with traditional atherosclerotic cardiovascular disease (ASCVD) risk factors, have CAC. While the defin... The identification of premature CAC is important because it suggests that calcific plaque can be detected with modern imaging earlier in the natural history than previously thought. Taken together, th...

Who are relatives? Young adults, relatives and professionals' perceptions of relatives during the rehabilitation of young adults with a severe acquired brain injury.

This paper explores the perception of "relatives" during the rehabilitation of young adults with severe acquired brain injury (SABI).... This longitudinal qualitative study followed eight young adults with a SABI from hospital discharge to a year and a half after discharge. The design encompassed professional records, interviews, and s... Social relations engaged as relatives during rehabilitation are to a large extent determined by the perceptions of professionals and the parents of the young adult. These perceptions contain a limited... The authors suggest a professional rethinking of who "relatives" are as well as considering these social ties as dynamic. Implications for rehabilitationRehabilitation professionals must be aware of a...

Predicting timely transfer to adult care in a cohort of autistic adolescents and young adults.

The transition from pediatric to adult care is a challenge for autistic adolescents and young adults. Data on patient features associated with timely transfer between pediatric and adult health care a... We analyzed pediatric and adult electronic medical record data from a cohort of adolescents and young adults who established with a primary-care based program for autistic adolescents and young adults... Total outpatient encounters and total encounters in pediatric care showed good ability to predict timely transfer to adult health care in a population of autistic adolescents and young adults....

Localised Synovial Sarcoma in Adolescents and Young Adults Versus Adults - Is There a Difference in Outcome?

Synovial sarcomas are a rare subgroup of soft-tissue sarcoma arising in adolescents and young adults (AYA) and in adult patients. The objective of our analysis was to investigate the outcomes and pote... In total, 51 patients (25 AYA and 26 adult) were identified and evaluated in this retrospective single centre analysis. Baseline characteristics, treatment and outcome were assessed.... The predominant subtype in both groups was monophasic synovial sarcoma (17 AYA and 21 adult) and the most common site was the extremities (14 and 19 patients) with deep tumour location in both groups ... AYA and adult patients showed no significant difference in terms of overall survival. Male gender, tumour size >5 cm and progressive disease were prognostic markers for worse outcome, whereas tumour l...

A Comprehensive Analysis of Speech Disfluencies in Autistic Young Adults and Control Young Adults: Group Differences in Typical, Stuttering-Like, and Atypical Disfluencies.

The purpose of this study was to examine the nature of speech disfluencies in autistic young adults and controls by using a wide-range disfluency classification of typical disfluencies (TD; i.e., fill... Thirty-two autistic young adults and 35 controls completed a narrative telling task based on socially complex events. Frequencies of total disfluencies, TD, SLD, AD and stuttering severity were compar... The overall frequency of disfluencies was significantly higher in the autistic group and significant between-group differences were found for all disfluency categories. The autistic group produced sig... Disfluent speech can be challenging for effective communication. This study revealed that the speech of autistic young adults was highly more disfluent than that of the controls. The findings provide ...

Ambivalence and Stigma Beliefs About Medication Treatment Among Young Adults With Opioid Use Disorder: A Qualitative Exploration of Young Adults' Perspectives.

Young adults with opioid use disorder (OUD) have low engagement in treatment with medication for opioid use disorder (MOUD). The objective of this study is to explore the beliefs and attitudes about M... We conducted a single-site qualitative study of 20 young adults ages 18-29 years with a diagnosis of OUD receiving care at an outpatient program and who spoke English. We used a flexible interview gui... We identified three themes. First, participants perceived being on MOUD as stigmatizing. They regarded MOUD as lifesaving but ultimately as a "crutch" hindering their full recovery. Second, young adul... In this study of young adults in treatment for OUD, we found that stigma and ambivalence concerning MOUD could explain young adults' low engagement in care. Interventions addressing concerns about the...

Favorable Survival After Screening for Young-Onset Colorectal Cancer: Benefits of Screening in Young Adults.

The increasing incidence and mortality of young-onset colorectal cancer has drawn increasing attention. However, screening for young adults is controversial given the limited evidence regarding its ef... We aimed to clarify the characteristics of young-onset colorectal cancer and to compare long-term outcomes of screening-detected colorectal cancer and non-screening-detected colorectal cancer.... This was a retrospective cohort study.... This study evaluated data from a colorectal cancer registry and medical records at a tertiary Japanese cancer center.... All patients with colorectal cancer who were registered at a Japanese tertiary cancer center between January 2007 and December 2016 were included.... The colorectal cancer cases were categorized as screening-detected colorectal cancer and non-screening-detected colorectal cancer, and patients were categorized into 3 age groups: <50 years (young-ons... A total of 4345 patients were identified, with a median follow-up of 4.6 years. Relative to 50- to 75-year-old individuals, young-onset colorectal cancer was linked to a higher proportion of rectal ca... The findings were limited by the retrospective analysis from a single center.... Young-onset colorectal cancer was more likely to present at an advanced stage and had a lower rate of screening-detected colorectal cancer. Nevertheless, young-onset screening-detected colorectal canc... ANTECEDENTES:La creciente incidencia y mortalidad del cáncer colorrectal en paciente joven ha atraído una atención cada vez mayor. Sin embargo, el cribado para adultos jóvenes es controvertido, dado l...

Speech disfluencies in bilingual Greek-English young adults.

The purpose of this study was to investigate the frequency and types of disfluencies in Greek-English bilingual adults across naturalistic speech samples and compare frequency and types of disfluencie... Participants in the study included 26 Greek-English bilingual young adults. All participants were sequential bilinguals, whose first language was Greek and second language was English. Two speech samp... Results indicated that participants produced more typical disfluencies in English compared to Greek across speaking samples. The most frequent types of disfluencies were filled pauses and vowel prolon... Our results revealed differences in the types and frequencies of disfluencies produced in participants' native compared to their second language. Results add to the growing body of literature addressi...