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Maladies du système immunitaire
Maladies auto-immunes
Maladies auto-immunes du système nerveux
Myasthénie
Myasthénie congénitale
Myasthénie congénitale : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"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 ?",
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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."
}
},
{
"@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."
}
}
]
}
]
}
Myeloproliferative neoplasms (MPNs) are clonal stem cell disorders commonly diagnosed in the seventh decade of life. With increasing access to blood surveillance, the number of adolescent and young ad...
Mild to moderate hypertriglyceridemia is a condition often associated with obesity and diabetes, with as yet incomplete knowledge of underlying genetic architecture. The 22q11.2 microdeletion is assoc...
This was a cohort study comparing 6793 population-based adults and 267 with a 22q11.2 microdeletion aged 17-69 years, excluding those with diabetes or on statins....
We used binomial logistic regression modeling to identify predictors of hypertriglyceridemia, accounting for the 22q11.2 microdeletion, male sex, BMI, ethnicity, age, and antipsychotic medications....
The 22q11.2 microdeletion was a significant independent predictor of mild to moderate hypertriglyceridemia (odds ratio (OR): 2.35, 95% CI: 1.70-3.26). All other factors examined were also significant ...
The 22q11.2 microdeletion is associated with hypertriglyceridemia even when accounting for other known risk factors for elevated triglycerides. This effect is seen in young adulthood (76.6% were <40 y...
The purpose of this study was to examine adolescents and young adults preferred methods of communication by health care professionals and to identify whether this aligns/differs from overall preferred...
This study aimed to obtain information about the thoughts of young adults with Down syndrome through interviews of them....
The numbers of participants were 4 and 7 in order to group interviews and individual interviews. They were recruited through the local Association of Parents of Down syndrome. The study incorporated a...
Through analysis, six themes emerged: 1) thoughts about work, 2) existence of friends, 3) how to spend leisure time, 4) meaning of disability, 5) relationships with people, and 6) future dreams....
1) Although young adults with Down syndrome are serious about their work, it is difficult for them to make friends at work. However, they recognized people at work as their comrades and were encourage...
Review the literature concerning adrenal insufficiency (AI) and adrenal crisis (AC) in adolescents and young adults....
Searches of PubMed identifying relevant reports up to March 2022....
AI is rare disorder that requires lifelong glucocorticoid replacement therapy and is associated with substantial morbidity and occasional mortality among adolescents and young adults. Aetiologies in t...
In this review, we examine the current state of knowledge of AC epidemiology in emerging adults; examine the causes of ACs in this age group; and suggest areas for further investigation that are aimed...
Ischemic Stroke in young adults is a real public health problem; it's a major cause of disability, alters quality of life and has a great socio-economic impact....
determine risk factors and specify the etiology of arterial ischemic stroke in young Tunisian adults....
In this 5 years retrospective study (2015-2020), we included all young adults (18-50 years) admitted for arterial ischemic stroke (AIS). Risk factors were registered and analyzed. All patients were in...
We collected 200 patients with AIS. The mean age was 41.37 years ± 6.99. Traditional vascular risk factors were observed in more than 1⁄4 patients. A definite cause of stroke was identified in 120 pat...
Through this study, we demonstrated the diversity of etiology of stroke in young Tunisian adults. Changes of lifestyle are responsible for the occurrence of the traditional risk factors at an early ag...
Radiotherapy for adolescents and young adults is complex in several aspects. The population is very heterogeneous and has characteristics derived from both paediatric and adult populations both in ter...
Spontaneous pneumomediastinum is characterized by the accumulation of air in the mediastinum with no identified cause. It is a rare and self-limiting condition. We report the case of a 32-year-old fem...
Primary hyperparathyroidism (PHPT) affects 2% of Americans over 55 years of age, and is less common in younger patients. Pediatric PHPT patients have higher rates of multigland disease (MGD). We studi...
Retrospective chart review was performed on patients who underwent parathyroidectomy for PHPT (2000-2019). Cohorts were defined by age: Group A (18-40 years) and Group B (> 40 years). Univariate and m...
Of 3889 patients with PHPT, 9.1% (n = 352) were included in Group A. On multivariate analysis, multiple endocrine neoplasia (odds ratio [OR] 6.3, 95% confidence interval [CI] 3.1-12.7), male sex (OR 1...
In our population of patients with sporadic PHPT, a positive family history of PHPT was strongly associated with MGD; additional associations were found with prior parathyroidectomy, non-localizing im...
Developmental dysplasia of the hip (DDH) is one of the most common disorders of hips in children. The deformity can remain asymptomatic into adolescence and adulthood; however, it is considered to be ...