Myopathie à axe central : Questions médicales fréquentes
Nom anglais: Myopathy, Central Core
Descriptor UI:D020512
Tree Number:C10.668.491.550.300
Termes MeSH sélectionnés :
Psychosocial Intervention
Questions fréquentes et termes MeSH associés
Diagnostic
5
#1
Comment diagnostique-t-on la myopathie à axe central ?
Le diagnostic repose sur l'examen clinique, l'électromyogramme et la biopsie musculaire.
MyopathieBiopsie musculaire
#2
Quels tests génétiques sont utilisés ?
Des tests génétiques peuvent identifier des mutations dans le gène RYR1, associé à cette myopathie.
Tests génétiquesRYR1
#3
Quels signes cliniques sont observés ?
On observe souvent une faiblesse musculaire proximale et des anomalies dans les biopsies musculaires.
Faiblesse musculaireBiopsie musculaire
#4
L'IRM est-elle utile pour le diagnostic ?
Oui, l'IRM peut montrer des anomalies musculaires caractéristiques de la myopathie à axe central.
IRMMyopathie
#5
Quel rôle joue l'historique familial ?
Un historique familial de myopathies peut orienter le diagnostic vers une origine génétique.
Antécédents familiauxMyopathie
Symptômes
5
#1
Quels sont les principaux symptômes ?
Les symptômes incluent faiblesse musculaire, fatigue et parfois des douleurs musculaires.
SymptômesFaiblesse musculaire
#2
La myopathie affecte-t-elle tous les muscles ?
Elle touche principalement les muscles proximaux, comme ceux des hanches et des épaules.
Muscles proximauxMyopathie
#3
Y a-t-il des symptômes respiratoires ?
Dans certains cas, la faiblesse musculaire peut affecter les muscles respiratoires.
Symptômes respiratoiresMyopathie
#4
Les symptômes varient-ils selon l'âge ?
Oui, les symptômes peuvent apparaître dès l'enfance ou à l'âge adulte, selon les cas.
Âge d'apparitionMyopathie
#5
Des troubles de la marche sont-ils fréquents ?
Oui, la faiblesse musculaire peut entraîner des difficultés à marcher ou à se lever.
Troubles de la marcheFaiblesse musculaire
Prévention
5
#1
Peut-on prévenir la myopathie à axe central ?
Étant génétique, il n'existe pas de prévention, mais un diagnostic précoce aide à la gestion.
PréventionDiagnostic précoce
#2
Le dépistage est-il recommandé ?
Le dépistage génétique peut être conseillé pour les familles à risque de transmission.
DépistageTransmission génétique
#3
Des conseils de vie peuvent-ils aider ?
Des conseils sur l'exercice et la nutrition peuvent améliorer la qualité de vie des patients.
Conseils de vieQualité de vie
#4
Les activités physiques sont-elles bénéfiques ?
Des activités adaptées peuvent aider à maintenir la force musculaire et la mobilité.
Activités physiquesMobilité
#5
Les consultations régulières sont-elles nécessaires ?
Oui, des suivis réguliers permettent d'ajuster les traitements et surveiller l'évolution.
ConsultationsSuivi médical
Traitements
5
#1
Quels traitements sont disponibles ?
Il n'existe pas de traitement curatif, mais la physiothérapie aide à maintenir la force musculaire.
PhysiothérapieTraitement
#2
Les médicaments sont-ils efficaces ?
Des médicaments peuvent être prescrits pour gérer les symptômes, mais leur efficacité varie.
MédicamentsSymptômes
#3
La chirurgie est-elle une option ?
La chirurgie n'est généralement pas indiquée, sauf pour des complications spécifiques.
ChirurgieComplications
#4
Comment la rééducation aide-t-elle ?
La rééducation physique aide à améliorer la fonction musculaire et la qualité de vie.
RééducationQualité de vie
#5
Y a-t-il des traitements expérimentaux ?
Des essais cliniques explorent des thérapies géniques et des traitements ciblés.
Thérapie géniqueEssais cliniques
Complications
5
#1
Quelles complications peuvent survenir ?
Les complications incluent des problèmes respiratoires et des déformations musculo-squelettiques.
ComplicationsDéformations musculo-squelettiques
#2
La myopathie peut-elle affecter la vie quotidienne ?
Oui, la faiblesse musculaire peut limiter les activités quotidiennes et l'autonomie.
Vie quotidienneAutonomie
#3
Y a-t-il un risque de cardiomyopathie ?
Certaines formes de myopathie peuvent être associées à des problèmes cardiaques.
CardiomyopathieMyopathie
#4
Les infections sont-elles plus fréquentes ?
Les infections peuvent survenir en raison de la faiblesse musculaire et de l'immobilité.
InfectionsImmobilité
#5
Comment gérer les complications ?
Une prise en charge multidisciplinaire est essentielle pour gérer les complications.
Prise en chargeMultidisciplinaire
Facteurs de risque
5
#1
Quels sont les facteurs de risque génétiques ?
Les antécédents familiaux de myopathies augmentent le risque de développer cette maladie.
Facteurs de risqueAntécédents familiaux
#2
L'âge est-il un facteur de risque ?
L'âge d'apparition peut varier, mais les symptômes se manifestent souvent dans l'enfance.
ÂgeMyopathie
#3
Le sexe influence-t-il le risque ?
Les myopathies peuvent affecter les deux sexes, mais certaines formes sont plus fréquentes chez les hommes.
SexeMyopathie
#4
Des facteurs environnementaux jouent-ils un rôle ?
Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques.
Facteurs environnementauxMyopathie
#5
Les maladies associées augmentent-elles le risque ?
Certaines maladies auto-immunes peuvent coexister avec la myopathie, mais leur lien n'est pas direct.
Maladies auto-immunesMyopathie
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},
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},
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"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines maladies auto-immunes peuvent coexister avec la myopathie, mais leur lien n'est pas direct."
}
}
]
}
]
}
Department of Neuromuscular Research, National Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, 4-1-1 Ogawahigashi, Tokyo 187-8502, Japan; Medical Genome Center, NCNP, Tokyo, Kodaira, Japan. Electronic address: nishino@ncnp.go.jp.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 187-8502 Tokyo, Japan; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, 187-8551 Tokyo, Japan.
From the Department of Learning, Informatics and Medical Education, Karolinska Institutet; Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital, Department of Neurobiology, Care Science and Society, Division of Physiotherapy and Department of Medicine, Karolinska Institutet; Division of Rheumatology, Rheumatology Unit, Department of Medicine, Karolinska Institutet, Solna, Sweden; Division of Rheumatology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA; Division of Rheumatology, Department of Internal Medicine, Medical Research Center, College of Medicine, Department of Molecular Medicine and Biopharmaceutical Sciences, Seoul National University, Seoul, Korea; Division of Rheumatology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, Perth; The Notre Dame University Fremantle, Fremantle, Australia; Amsterdam UMC, University of Amsterdam, Department of Neurology, Amsterdam Neuroscience, Amsterdam, the Netherlands; Center for Global Health, University of Ottawa, Ottawa, Ontario, Canada.
M. Regardt, PhD, Occupational Therapist, Department of Learning, Informatics and Medical Education, Karolinska Institutet, and Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital; C.A. Mecoli, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; J.K. Park, MD, PhD, Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital; I. de Groot, Patient Research Partner; C. Sarver, Patient Research Partner; M. Needham, MD, Division of Rheumatology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, and The Notre Dame University; M. de Visser, MD, PhD, Amsterdam UMC, University of Amsterdam, Department of Neurology, Amsterdam Neuroscience; B. Shea, MSN, Center for Global Health, University of Ottawa; C.O. Bingham III, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; I.E. Lundberg, MD, PhD, Division of Rheumatology, Rheumatology Unit, Department of Medicine, Karolinska Institutet; Y.W. Song, MD, PhD, Division of Rheumatology, Department of Internal Medicine, Medical Research Center, College of Medicine, Department of Molecular Medicine and Biopharmaceutical Sciences, Seoul National University; L. Christopher-Stine, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; H. Alexanderson, PhD, Physiotherapist, Department of Neurobiology, Care Science and Society, Division of Physiotherapy and Department of Medicine Solna, Karolinska Institutet, and Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital. M. Regardt and Dr. C. Mecoli are co-first authors.
Department of Neuromuscular Research, National Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, 4-1-1 Ogawahigashi, Tokyo 187-8502, Japan; Medical Genome Center, NCNP, Tokyo, Kodaira, Japan; Department of Pediatrics, Showa General Hospital, Tokyo, Kodaira, Japan.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France. isabelle.marty@univ-grenoble-alpes.fr.
Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France. matteo.garibaldi@uniroma1.it.
Unit of Neuromuscular Diseases, Neuromuscular Disease Centre, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, SAPIENZA University of Rome, Sant'Andrea Hospital, Via di Grottarossa 1035-1039, 00189, Rome, Italy. matteo.garibaldi@uniroma1.it.
Service Neurologie Médicale, Centre de Référence Maladies Neuromusculaire Paris-Est-Ile de France, CHU Raymond-Poincaré Paris Ouest, Garches, France.
U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR des sciences de la santé Simone Veil, Université Versailles-Saint-Quentin-en-Yvelines, Versailles, France.
Unit of Neuromuscular Diseases, Neuromuscular Disease Centre, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, SAPIENZA University of Rome, Sant'Andrea Hospital, Via di Grottarossa 1035-1039, 00189, Rome, Italy.
To meet the increasingly complex needs of mental health consumers, it is essential for multidisciplinary clinicians to have capabilities across a range of psychosocial interventions. Despite this, the...
This article discusses psychosocial interventions in the contexts they are meant to be delivered. Prevention and intervention science often follow the linear pathway of preclinical or pre-intervention...
Cancer causes significant impacts on patients and their caregivers. Cancer is also associated with multiple physical and emotional challenges for the patient-caregiver dyad. This patient-caregiver dya...
Twelve studies that tested dyadic interventions aiming to support patient-caregiver dyads were identified from the period April 2020 to December 2021. Studies were predominantly randomized controlled ...
Dyadic psychological interventions may be an effective support for patient-caregiver dyads dealing with multiple physical and emotional challenges. Online interventions and the variability of interven...
Internalised shame has been linked to psychopathology and consistently identified as a predictor of poor treatment outcomes and premature therapy termination. We conducted a scoping review of therapis...
Six bibliographical databases were searched for studies measuring internalised shame pre- and post-treatment. We screened 6846 abstracts; 42 full-text manuscripts were retrieved, with 16 studies meeti...
Twelve of the sixteen included studies reported small to moderate within-group reductions in internalised shame. Between group analyses showed that shame interventions may be more effective than no tr...
Successful treatments often involved psychoeducation, experiential exercises, and techniques to increase social support and emotional expression; however, study quality was weak to moderate and the im...
Cancer-related fatigue is one of the most common symptoms of cancer and one of those referred by patients as the most disabling. However, we still do not have enough evidence to allow us to recommend ...
To provide evidence on the efficacy of ASCO-recommended psychosocial interventions for reducing cancer-related fatigue....
A general quantitative systematic review for nonprimary clinical interventions that allows the collection, synthesis and analysis of already published reviews. Systematic reviews of RTCs were selected...
Research gaps, study biases and the need for further research to ask more precise questions and to make reliable recommendations to mitigate the impact of cancer-related fatigue are evident....
To bring evidence-based interventions (EBIs) to individuals with behavioral health needs, psychosocial interventions must be delivered at scale. Despite an increasing effort to implement effective tre...
We offer a first-hand examination of five illustrative organizations specializing in EBI implementation: Beck Institute for Cognitive Behavioral Therapy; Incredible Years, Inc.; the PAXIS Institute; P...
We propose research questions to guide scaling: understanding the level of fidelity needed to maintain efficacy, optimizing training outcomes, and researching business models to enable organizations t...
Antipsychotic medications are regularly prescribed in care home residents for the management of behavioural and psychological symptoms of dementia (BPSD) despite questionable efficacy, important adver...
To evaluate the benefits and harms of psychosocial interventions to reduce antipsychotic medication use in care home residents compared to regular care, optimised regular care, or a different psychoso...
We used standard, extensive Cochrane search methods. The latest search date was 14 July 2022....
We included individual or cluster-randomised controlled trials comparing a psychosocial intervention aimed primarily at reducing the use of antipsychotic medication with regular care, optimised regula...
We used standard Cochrane methods. Critical appraisal of studies addressed risks of selection, performance, attrition and detection bias, as well as criteria related to cluster randomisation. We retri...
Our secondary outcomes were 3. mortality; 4. BPSD; 5. quality of life; 6. prescribing of regularly psychotropic medication; 7. regimen of regularly prescribed antipsychotic medication; 8. antipsychoti...
We used GRADE to assess certainty of evidence....
We included five cluster-randomised controlled studies (120 clusters, 8342 participants). We found pronounced clinical heterogeneity and therefore decided to present study results narratively. All stu...
All included interventions were complex and the components of the interventions differed considerably between studies. Interventions and intervention components were mostly not described in sufficient...
The wide range of psychosocial interventions designed to assist people with Autism Spectrum Disorder (ASD) makes it challenging to compile and hierarchize the scientific evidence that supports the eff...
Each meta-analysis that was identified was re-estimated using a random-effects model with a restricted maximum likelihood estimator. The methodological quality of included meta-analyses was critically...
We identified a total of 128 meta-analyses derived from 44 reports. More than half of the non-overlapping meta-analyses were nominally statistically significant and/or displayed a moderate-to-large po...
This umbrella review confirmed that several psychosocial interventions show promise for improving symptoms related to ASD at different stages of life. However, additional well-designed randomized cont...
PROSPERO ID CRD42020212630....
Exposure to rape, sexual assault and sexual abuse has lifelong impacts for mental health and well-being. Prolonged Exposure (PE), Cognitive Processing Therapy (CPT) and Eye Movement Desensitisation an...
To assess the effects of psychosocial interventions on mental health and well-being for survivors of rape, sexual assault or sexual abuse experienced during adulthood....
In January 2022, we searched CENTRAL, MEDLINE, Embase, 12 other databases and three trials registers. We also checked reference lists of included studies, contacted authors and experts, and ran forwar...
Any study that allocated individuals or clusters of individuals by a random or quasi-random method to a psychosocial intervention that promoted recovery and healing following exposure to rape, sexual ...
We used the standard methodological procedures expected by Cochrane....
We included 36 studies (1991 to 2021) with 3992 participants randomly assigned to 60 experimental groups (3014; 76%) and 23 inactive comparator conditions (978, 24%). The experimental groups consisted...
Our review suggests that survivors of rape, sexual violence and sexual abuse during adulthood may experience a large reduction in post-treatment PTSD symptoms and depressive symptoms after experiencin...
The objective of this review is to provide an overview of the existing literature on psychosocial interventions aimed at addressing suicidality among adults in the context of an inpatient psychiatric ...
For individuals admitted to a psychiatric inpatient unit, their risk of suicide in the period following discharge is significantly higher compared with the prevalence of death by suicide in the genera...
Studies involving adult patients (≥18 years) that describe psychosocial interventions aiming to address suicidality in the context of inpatient psychiatry will be considered. Studies that only describ...
We will search MEDLINE (Ovid), CINAHL (EBSCO), APA PsycINFO (EBSCOhost), the Cochrane Central Register of Controlled Trials (CENTRAL), Embase, and Web of Science for studies in English and Spanish. Gr...
Open Science Framework https://osf.io/5cwhx....