Titre : Syndrome de Kearns-Sayre

Syndrome de Kearns-Sayre : Questions médicales fréquentes

Termes MeSH sélectionnés :

Cognitive Dysfunction
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"Diagnostic", "headline": "Diagnostic sur Syndrome de Kearns-Sayre", "description": "Comment diagnostique-t-on le syndrome de Kearns-Sayre ?\nQuels tests génétiques sont utilisés ?\nQuels signes cliniques sont observés ?\nL'électrocardiogramme est-il utile ?\nLes biopsies musculaires sont-elles nécessaires ?", "url": "https://questionsmedicales.fr/mesh/D007625?mesh_terms=Cognitive+Dysfunction&page=5#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Syndrome de Kearns-Sayre", "description": "Quels sont les symptômes principaux ?\nLa fatigue est-elle un symptôme fréquent ?\nY a-t-il des problèmes de vision ?\nLes troubles de l'équilibre sont-ils possibles ?\nLes patients peuvent-ils avoir des douleurs musculaires ?", "url": "https://questionsmedicales.fr/mesh/D007625?mesh_terms=Cognitive+Dysfunction&page=5#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Syndrome de Kearns-Sayre", "description": "Peut-on prévenir le syndrome de Kearns-Sayre ?\nLes tests génétiques peuvent-ils aider ?\nLes conseils génétiques sont-ils utiles ?\nLes femmes enceintes doivent-elles être testées ?\nY a-t-il des recommandations pour les familles ?", "url": "https://questionsmedicales.fr/mesh/D007625?mesh_terms=Cognitive+Dysfunction&page=5#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Syndrome de Kearns-Sayre", "description": "Quel est le traitement principal du syndrome ?\nLes suppléments de coenzyme Q10 sont-ils utiles ?\nDes médicaments sont-ils prescrits pour la cardiomyopathie ?\nLa physiothérapie est-elle recommandée ?\nY a-t-il des traitements pour les troubles de la vision ?", "url": "https://questionsmedicales.fr/mesh/D007625?mesh_terms=Cognitive+Dysfunction&page=5#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Syndrome de Kearns-Sayre", "description": "Quelles sont les complications possibles ?\nLe syndrome peut-il affecter la qualité de vie ?\nY a-t-il un risque accru de diabète ?\nLes troubles de la mémoire sont-ils fréquents ?\nLes patients sont-ils à risque d'infections ?", "url": "https://questionsmedicales.fr/mesh/D007625?mesh_terms=Cognitive+Dysfunction&page=5#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Syndrome de Kearns-Sayre", "description": "Quels sont les facteurs de risque connus ?\nLe sexe influence-t-il le risque ?\nL'âge d'apparition est-il variable ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes mutations génétiques sont-elles héréditaires ?", "url": "https://questionsmedicales.fr/mesh/D007625?mesh_terms=Cognitive+Dysfunction&page=5#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostique-t-on le syndrome de Kearns-Sayre ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'examen clinique, l'IRM et des tests génétiques." } }, { "@type": "Question", "name": "Quels tests génétiques sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests pour détecter des mutations dans l'ADN mitochondrial sont effectués." } }, { "@type": "Question", "name": "Quels signes cliniques sont observés ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Ophtalmoplégie, troubles cardiaques et anomalies neurologiques sont typiques." } }, { "@type": "Question", "name": "L'électrocardiogramme est-il utile ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il peut montrer des anomalies cardiaques associées au syndrome." } }, { "@type": "Question", "name": "Les biopsies musculaires sont-elles nécessaires ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Elles peuvent être réalisées pour détecter des anomalies mitochondriales." } }, { "@type": "Question", "name": "Quels sont les symptômes principaux ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Ophtalmoplégie, cardiomyopathie, surdité et troubles neurologiques." } }, { "@type": "Question", "name": "La fatigue est-elle un symptôme fréquent ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la fatigue chronique est courante chez les patients atteints." } }, { "@type": "Question", "name": "Y a-t-il des problèmes de vision ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles visuels comme la ptose et la rétinopathie peuvent survenir." } }, { "@type": "Question", "name": "Les troubles de l'équilibre sont-ils possibles ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des problèmes d'équilibre et de coordination peuvent se manifester." } }, { "@type": "Question", "name": "Les patients peuvent-ils avoir des douleurs musculaires ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des douleurs musculaires et des crampes sont souvent rapportées." } }, { "@type": "Question", "name": "Peut-on prévenir le syndrome de Kearns-Sayre ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de méthode de prévention, car c'est une maladie génétique." } }, { "@type": "Question", "name": "Les tests génétiques peuvent-ils aider ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils peuvent identifier les porteurs et informer les familles." } }, { "@type": "Question", "name": "Les conseils génétiques sont-ils utiles ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils aident les familles à comprendre les risques de transmission." } }, { "@type": "Question", "name": "Les femmes enceintes doivent-elles être testées ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Si des antécédents familiaux existent, un test peut être recommandé." } }, { "@type": "Question", "name": "Y a-t-il des recommandations pour les familles ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des conseils sur la gestion des symptômes et le soutien psychologique." } }, { "@type": "Question", "name": "Quel est le traitement principal du syndrome ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de traitement curatif, mais des soins symptomatiques sont offerts." } }, { "@type": "Question", "name": "Les suppléments de coenzyme Q10 sont-ils utiles ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils peuvent aider à améliorer la fonction mitochondriale." } }, { "@type": "Question", "name": "Des médicaments sont-ils prescrits pour la cardiomyopathie ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des médicaments comme les bêtabloquants peuvent être utilisés." } }, { "@type": "Question", "name": "La physiothérapie est-elle recommandée ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la physiothérapie peut aider à améliorer la force et la mobilité." } }, { "@type": "Question", "name": "Y a-t-il des traitements pour les troubles de la vision ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Des aides visuelles et des interventions chirurgicales peuvent être envisagées." } }, { "@type": "Question", "name": "Quelles sont les complications possibles ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent l'insuffisance cardiaque et des troubles neurologiques." } }, { "@type": "Question", "name": "Le syndrome peut-il affecter la qualité de vie ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes peuvent gravement impacter la qualité de vie des patients." } }, { "@type": "Question", "name": "Y a-t-il un risque accru de diabète ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains patients peuvent développer un diabète de type 2." } }, { "@type": "Question", "name": "Les troubles de la mémoire sont-ils fréquents ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles cognitifs et de la mémoire peuvent survenir." } }, { "@type": "Question", "name": "Les patients sont-ils à risque d'infections ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une immunité affaiblie peut augmenter le risque d'infections." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque connus ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents familiaux de maladies mitochondriales sont un facteur de risque." } }, { "@type": "Question", "name": "Le sexe influence-t-il le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Non, le syndrome affecte les hommes et les femmes de manière égale." } }, { "@type": "Question", "name": "L'âge d'apparition est-il variable ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes peuvent apparaître entre l'enfance et l'âge adulte." } }, { "@type": "Question", "name": "Les facteurs environnementaux jouent-ils un rôle ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'y a pas de preuves solides sur l'influence environnementale." } }, { "@type": "Question", "name": "Les mutations génétiques sont-elles héréditaires ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les mutations peuvent être transmises par la mère à l'enfant." } } ] } ] }

Sources (10000 au total)

Cognitive and functional connectivity impairment in post-COVID-19 olfactory dysfunction.

To explore the neuropsychological profile and the integrity of the olfactory network in patients with COVID-19-related persistent olfactory dysfunction (OD).... Patients with persistent COVID-19-related OD underwent olfactory assessment with Sniffin' Sticks and neuropsychological evaluation. Additionally, both patients and a control group underwent brain MRI,... We included 23 patients (mean age 37 ± 14 years, 12 females) with persistent (mean duration 11 ± 5 months, range 2-19 months) COVID-19-related OD (mean score 23.63 ± 5.32/48, hyposmia cut-off: 30.75) ... Patients with persistent COVID-19-related OD showed an altered olfactory network connectivity correlated with hyposmia severity and neuropsychological performance. No significant morphological alterat...

The quantitative analysis of EEG during resting and cognitive states related to neurological dysfunctions and cognitive impairments in methamphetamine abusers.

Several lines of evidence demonstrated the deleterious effect of methamphetamine (MA) on neurological and psychological functions. However, recent evidence on the neurological dysfunctions related to ...

Cognitive dysfunction and psychopathology: a cohort study of adults with intellectual developmental disorder.

Cognitive impairment of intellectual developmental disorders (IDD) is determined by several different combinations of specific cognitive alterations. People with IDD present a rate of mental health pr... One hundred and twenty adults with mild to moderate IDD living in residential facilities underwent a clinical and instrumental assessment for specific cognitive and psychopathological features.... Participants with IDD and ASD have significantly lower scores compared to those without respect to who has not the diagnosis on the Processing Speed Index (PSI) and Perceptual Reasoning Index (PRI) on... Although further research is needed, neuropsychological and IQ tests scores seem to be differently associated to various psychopathological conditions co-occurring with IDD, and with ASD especially. C...

Pathogenic factors of cognitive dysfunction after liver transplantation: an observational study.

Neurocognitive complications significantly reduce long-term health-related quality of life in patients undergoing liver transplantation; however, few studies have focused on their perioperative cognit... This study included patients with end-stage liver disease who were on the liver transplantation waiting list. We performed an investigation with a neuropsychological battery before and 1 week after th... A total of 132 patients completed all the investigations. Compared with healthy controls and preoperative cognitive performance, 54 patients experienced deterioration, 50 patients remained unchanged, ... The incidences of deterioration, maintenance, and improvement in cognitive function were 40.9%, 37.9%, and 21.2%, respectively. Increasing age, higher MELD score, lower perfusion pressure in the early...