Titre : Dystrophine

Dystrophine : Questions médicales fréquentes

Termes MeSH sélectionnés :

Cognitive Dysfunction
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"https://questionsmedicales.fr/mesh/D016189?mesh_terms=Cognitive+Dysfunction&page=3#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Dystrophine", "description": "Quels sont les symptômes de la dystrophie musculaire de Duchenne ?\nComment évoluent les symptômes au fil du temps ?\nY a-t-il des symptômes non musculaires associés ?\nÀ quel âge apparaissent généralement les premiers symptômes ?\nLes symptômes varient-ils selon les individus ?", "url": "https://questionsmedicales.fr/mesh/D016189?mesh_terms=Cognitive+Dysfunction&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Dystrophine", "description": "Peut-on prévenir les maladies liées à la dystrophine ?\nLe dépistage génétique est-il recommandé ?\nLes conseils génétiques sont-ils utiles ?\nLes activités physiques peuvent-elles aider à prévenir la perte musculaire ?\nY a-t-il des recommandations diététiques pour les patients ?", "url": "https://questionsmedicales.fr/mesh/D016189?mesh_terms=Cognitive+Dysfunction&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Dystrophine", "description": "Quels traitements existent pour la dystrophie musculaire ?\nLes corticostéroïdes sont-ils efficaces ?\nQuelles sont les options de thérapie génique ?\nLa physiothérapie aide-t-elle les patients ?\nY a-t-il des traitements expérimentaux en cours ?", "url": "https://questionsmedicales.fr/mesh/D016189?mesh_terms=Cognitive+Dysfunction&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Dystrophine", "description": "Quelles complications peuvent survenir avec la dystrophine ?\nComment la dystrophie affecte-t-elle le cœur ?\nLes patients ont-ils un risque accru d'infections ?\nQuelles sont les conséquences de la perte de mobilité ?\nLes complications peuvent-elles être gérées ?", "url": "https://questionsmedicales.fr/mesh/D016189?mesh_terms=Cognitive+Dysfunction&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Dystrophine", "description": "Quels sont les facteurs de risque pour la dystrophie musculaire ?\nLa dystrophie musculaire est-elle héréditaire ?\nLes garçons sont-ils plus à risque que les filles ?\nY a-t-il des facteurs environnementaux impliqués ?\nLes mutations génétiques sont-elles fréquentes ?", "url": "https://questionsmedicales.fr/mesh/D016189?mesh_terms=Cognitive+Dysfunction&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une déficience en dystrophine ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Un diagnostic se fait par biopsie musculaire et tests génétiques pour détecter des mutations." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour évaluer la dystrophine ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests incluent l'électromyogramme (EMG) et l'analyse de la dystrophine par immunohistochimie." } }, { "@type": "Question", "name": "Quels symptômes initiaux signalent une déficience en dystrophine ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent faiblesse musculaire progressive et difficultés à marcher." } }, { "@type": "Question", "name": "Quel rôle joue l'IRM dans le diagnostic ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "L'IRM peut montrer des anomalies musculaires et aider à évaluer l'étendue des lésions." } }, { "@type": "Question", "name": "Les tests génétiques sont-ils fiables pour la dystrophine ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests génétiques sont très fiables pour identifier les mutations de la dystrophine." } }, { "@type": "Question", "name": "Quels sont les symptômes de la dystrophie musculaire de Duchenne ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent faiblesse musculaire, chutes fréquentes et difficultés à courir." } }, { "@type": "Question", "name": "Comment évoluent les symptômes au fil du temps ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes s'aggravent progressivement, entraînant une perte de mobilité et des déformations." } }, { "@type": "Question", "name": "Y a-t-il des symptômes non musculaires associés ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des problèmes cardiaques et respiratoires peuvent survenir en raison de la dystrophine." } }, { "@type": "Question", "name": "À quel âge apparaissent généralement les premiers symptômes ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Les premiers symptômes apparaissent souvent entre 2 et 6 ans chez les enfants atteints." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon les individus ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'intensité et le type de symptômes peuvent varier d'une personne à l'autre." } }, { "@type": "Question", "name": "Peut-on prévenir les maladies liées à la dystrophine ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'existe pas de méthode de prévention, mais un diagnostic précoce aide." } }, { "@type": "Question", "name": "Le dépistage génétique est-il recommandé ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage génétique peut être recommandé pour les familles à risque de dystrophie." } }, { "@type": "Question", "name": "Les conseils génétiques sont-ils utiles ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les conseils génétiques aident les familles à comprendre les risques et les options." } }, { "@type": "Question", "name": "Les activités physiques peuvent-elles aider à prévenir la perte musculaire ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Des exercices adaptés peuvent aider à maintenir la force musculaire et la mobilité." } }, { "@type": "Question", "name": "Y a-t-il des recommandations diététiques pour les patients ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Une alimentation équilibrée peut soutenir la santé générale, mais ne prévient pas la maladie." } }, { "@type": "Question", "name": "Quels traitements existent pour la dystrophie musculaire ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent la physiothérapie, les corticostéroïdes et les thérapies géniques." } }, { "@type": "Question", "name": "Les corticostéroïdes sont-ils efficaces ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils peuvent ralentir la progression de la maladie et améliorer la force musculaire." } }, { "@type": "Question", "name": "Quelles sont les options de thérapie génique ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des thérapies géniques visent à corriger ou remplacer le gène de la dystrophine défectueux." } }, { "@type": "Question", "name": "La physiothérapie aide-t-elle les patients ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la physiothérapie aide à maintenir la mobilité et à renforcer les muscles restants." } }, { "@type": "Question", "name": "Y a-t-il des traitements expérimentaux en cours ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, plusieurs essais cliniques explorent de nouvelles approches, y compris des médicaments ciblés." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec la dystrophine ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des problèmes respiratoires, cardiaques et des scolioses." } }, { "@type": "Question", "name": "Comment la dystrophie affecte-t-elle le cœur ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Elle peut entraîner une cardiomyopathie, affectant la fonction cardiaque et la circulation." } }, { "@type": "Question", "name": "Les patients ont-ils un risque accru d'infections ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la faiblesse musculaire peut augmenter le risque d'infections respiratoires." } }, { "@type": "Question", "name": "Quelles sont les conséquences de la perte de mobilité ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "La perte de mobilité peut entraîner des complications comme des contractures et des escarres." } }, { "@type": "Question", "name": "Les complications peuvent-elles être gérées ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une prise en charge médicale appropriée peut aider à gérer les complications." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque pour la dystrophie musculaire ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des antécédents familiaux et des mutations génétiques spécifiques." } }, { "@type": "Question", "name": "La dystrophie musculaire est-elle héréditaire ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la plupart des formes de dystrophie musculaire sont héréditaires et liées à des gènes." } }, { "@type": "Question", "name": "Les garçons sont-ils plus à risque que les filles ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la dystrophie musculaire de Duchenne touche principalement les garçons en raison de son mode de transmission." } }, { "@type": "Question", "name": "Y a-t-il des facteurs environnementaux impliqués ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des causes." } }, { "@type": "Question", "name": "Les mutations génétiques sont-elles fréquentes ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Les mutations du gène de la dystrophine sont relativement fréquentes dans la population." } } ] } ] }

Sources (10000 au total)

Predictors of cognitive dysfunction in hereditary transthyretin amyloidosis with liver transplant.

Cognitive dysfunction is part of the broad spectrum of clinical manifestations in older untreated hereditary transthyretin amyloidosis patients with peripheral polyneuropathy.... The objective of this study is to systematically explore cognitive dysfunction in ATTRV30M amyloidosis patients whose disease course was modified by liver transplant (LT).... A series of 269 carriers of TTRVal30Met mutation treated with LT underwent a neuropsychological assessment. Clinical charts were reviewed to identify focal neurological episodes (FNEs), cognitive comp... Cognitive dysfunction was identified in 35 patients (13%)-14 (5%) had mild and 21 (8%) had moderate dysfunction. In comparison to normal cognition, both mild and moderate cognitive dysfunction patient... Consistent with the natural history of the disease, older age and higher severity of the disease are significantly associated and potentially predictors of cognitive dysfunction in ATTRV30M patients t...

Risk factors for cognitive dysfunction amongst patients with cardiovascular diseases.

The impact of cardiovascular diseases on cognition raises important research questions. The study aimed to investigate the relationship between demographic data, cardiovascular diseases, kidney diseas... A cross-sectional study of patients with cardiovascular diseases was performed. The Montreal Cognitive Assessment (MoCA) was applied for cognitive evaluation. Based on MoCA three groups were defined: ... Of 628 patients, 55.2% had mild CD, and the mean age was 67.95 (SD 9.53) years. Cα and Mω were 0.7, indicating good internal consistency. We found a moderate positive correlation between depression an... Mild CD was the most common in patients with cardiovascular diseases. Older age, lower education, being a non-smoker, and renal dysfunction were risk factors for both mild and advanced CD. Female gend...

Predictors of cognitive dysfunction one-year post COVID-19.

(a) To characterize the frequency of objective cognitive deficits and self-perceived cognitive difficulties and (b) to explore demographic and clinical predictors of cognitive dysfunction and cognitiv... One hundred and ten adults diagnosed with COVID-19 between March and November 2020, aged ≤ 74 years underwent a brief neuropsychological evaluation 12 months after infection, which included: Brief Vis... Twenty participants (18.2%) had cognitive dysfunction and 36 (33.3%) had cognitive complaints. Cognitive dysfunction was related to lower education, preinfection history of headache/migraine, and acut... A subset of individuals develops cognitive difficulties in the context of post-COVID syndrome. Results may support the protective effect of education, a known proxy of cognitive reserve. COVID-19 infe...

Cognitive Dysfunction Biomarkers in Patients With Rheumatoid Arthritis: A Systematic Review.

During the last years, a growing number of studies have investigated the link between cognitive dysfunction and rheumatoid arthritis (RA), highlighting the potential pathogenic role of several clinica... We performed a systematic review using PRISMA (Preferred Reported Items for Systematic Reviews and Meta-analysis) protocol. A systematic search was conducted in the PubMed/MEDLINE, EMBASE, LILACS, Sco... Five original studies were included, which provided data from 428 participants. Among plasma proteins, SHH was increased and TTR was reduced in patients with mild cognitive impairment; anti-myelin bas... Despite the relative scarcity of studies on this subject and the heterogeneity of results, we identified possible biomarkers for cognitive deficits in the RA population. Further longitudinal studies a...

Endothelial Dysfunction and Pre-Existing Cognitive Disorders in Stroke Patients.

The origin of pre-existing cognitive impairment in stroke patients remains controversial, with a vascular or a degenerative hypothesis.... To determine whether endothelial dysfunction is associated with pre-existing cognitive problems, lesion load and biological anomalies in stroke patients.... Patients originated from the prospective STROKDEM study. The baseline cognitive state, assessed using the IQ-CODE, and risk factors for stroke were recorded at inclusion. Patients with an IQ-CODE scor... A total of 86 patients were included (52 males; mean age 63.5 ± 11.5 years). Patients with abnormal RHI have hypertension or antihypertensive treatment more often. The baseline IQ-CODE was abnormal in... A vascular mechanism may be responsible for cognitive problems pre-existing stroke. The measurement of endothelial dysfunction after stroke could become an important element of follow-up, providing an...

Cognitive Dysfunction in Heart Failure: Pathophysiology and Implications for Patient Management.

There is increasing recognition of the prevalence and impact of cognitive dysfunction (CD) in heart failure (HF) patients. This contemporary review appraises the evidence for epidemiological associati... CD disproportionately affects heart failure patients, even accounting for known comorbid risk factors, and this may extend to subclinical left ventricular dysfunction. Neuroimaging studies now provide...

Frequency and risk factors for cognitive dysfunction in peritoneal dialysis patients.

There is limited data on cognition in patients undergoing peritoneal dialysis (PD). We assessed prevalence and associated risk factors of neurocognitive impairment (NCI) in PD patients.... A cross-sectional cohort study of 149 PD patients at a single centre between 2016 and 2020 who underwent neurocognitive screening at defined intervals by Addenbrooke's Cognitive Examination - Revised ... Patients on PD performed poorly in ACE-R screening compared to population norms, with discrepancy in all cognitive domains. In patients without CVD, attention and language domains were comparable to n... Patients on PD have higher prevalence of NCI than the general population, primarily with impairments in memory, fluency and visuospatial reasoning. CVD confers poorer performance in attention and lang...