questionsmedicales.fr
Maladies métaboliques et nutritionnelles
Maladies métaboliques
Erreurs innées du métabolisme
Erreurs innées du métabolisme des métaux
Maladie de Menkès
Maladie de Menkès : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Syndrome de Menkès
Diagnostic médical
Cheveux
Syndrome de Menkès
Retard de développement
Troubles neurologiques
Âge d'apparition
Syndrome de Menkès
Symptômes
5
Symptômes
Syndrome de Menkès
Troubles neurologiques
Hypotonie
Retard de croissance
Développement physique
Cheveux frisés
Syndrome de Menkès
Anomalies dentaires
Syndrome de Menkès
Prévention
5
Prévention
Dépistage génétique
Dépistage prénatal
Génétique
Tests génétiques
Syndrome de Menkès
Conseils génétiques
Syndrome de Menkès
Vaccinations
Prévention des infections
Traitements
5
Suppléments de cuivre
Traitement médical
Efficacité des traitements
Syndrome de Menkès
Thérapie physique
Développement moteur
Soins palliatifs
Syndrome de Menkès
Transfusions sanguines
Syndrome de Menkès
Complications
5
Complications
Troubles neurologiques
Vie quotidienne
Assistance
Mortalité
Syndrome de Menkès
Troubles du comportement
Syndrome de Menkès
Anomalies cardiaques
Syndrome de Menkès
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Sexe
Transmission génétique
Porteurs
Transmission génétique
Facteurs environnementaux
Syndrome de Menkès
Consanguinité
Transmission génétique
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"text": "Le diagnostic repose sur l'examen clinique, l'analyse des cheveux et des tests génétiques."
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"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
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"text": "Des tests de séquençage de l'ADN peuvent identifier des mutations dans le gène ATP7A."
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{
"@type": "Question",
"name": "Les analyses de cheveux sont-elles utiles ?",
"position": 3,
"acceptedAnswer": {
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"text": "Oui, elles montrent des anomalies typiques, comme des cheveux frisés et cassants."
}
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{
"@type": "Question",
"name": "Quels signes cliniques indiquent cette maladie ?",
"position": 4,
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"name": "À quel âge se manifeste la maladie ?",
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{
"@type": "Question",
"name": "Quels sont les symptômes principaux ?",
"position": 6,
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"@type": "Question",
"name": "Les problèmes neurologiques sont-ils fréquents ?",
"position": 7,
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"name": "Y a-t-il des problèmes de croissance ?",
"position": 8,
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{
"@type": "Question",
"name": "Les cheveux sont-ils affectés ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils sont souvent frisés, cassants et de couleur pâle, d'où le nom de la maladie."
}
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{
"@type": "Question",
"name": "Des problèmes dentaires sont-ils associés ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
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{
"@type": "Question",
"name": "Peut-on prévenir la maladie de Menkès ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La maladie étant génétique, il n'existe pas de prévention, mais un dépistage peut aider."
}
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{
"@type": "Question",
"name": "Le dépistage prénatal est-il possible ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage prénatal peut identifier des mutations génétiques chez le fœtus."
}
},
{
"@type": "Question",
"name": "Les parents porteurs peuvent-ils être testés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent déterminer si les parents sont porteurs de la mutation."
}
},
{
"@type": "Question",
"name": "Des conseils génétiques sont-ils disponibles ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des conseils génétiques peuvent aider les familles à comprendre les risques."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles recommandées ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les vaccinations sont recommandées pour prévenir d'autres infections."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement consiste en des suppléments de cuivre pour compenser le déficit."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils efficaces ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements peuvent améliorer certains symptômes, mais ne guérissent pas la maladie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des thérapies complémentaires ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies physiques et occupationnelles peuvent aider au développement moteur."
}
},
{
"@type": "Question",
"name": "Les soins palliatifs sont-ils nécessaires ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des soins palliatifs peuvent être requis pour gérer les symptômes avancés."
}
},
{
"@type": "Question",
"name": "Les transfusions sanguines sont-elles utiles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les transfusions ne sont pas un traitement pour la maladie de Menkès."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et des problèmes de croissance."
}
},
{
"@type": "Question",
"name": "La maladie affecte-t-elle la vie quotidienne ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent avoir besoin d'assistance pour les activités quotidiennes."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de mortalité ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Menkès peut réduire l'espérance de vie en raison de complications."
}
},
{
"@type": "Question",
"name": "Les troubles comportementaux sont-ils fréquents ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles du comportement peuvent survenir en raison de l'atteinte neurologique."
}
},
{
"@type": "Question",
"name": "Des problèmes cardiaques peuvent-ils se développer ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies cardiaques peuvent être associées à la maladie de Menkès."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux de la maladie et des mutations génétiques."
}
},
{
"@type": "Question",
"name": "La maladie est-elle plus fréquente chez certains sexes ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Menkès affecte principalement les garçons en raison de son mode de transmission."
}
},
{
"@type": "Question",
"name": "Les parents porteurs sont-ils à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les parents porteurs de mutations dans le gène ATP7A peuvent transmettre la maladie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, aucun facteur environnemental n'est clairement associé à la maladie."
}
},
{
"@type": "Question",
"name": "Les consanguinités augmentent-elles le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les unions consanguines peuvent augmenter le risque de transmission de la maladie."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 20/04/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Graduate School of Health Sciences, Teikyo Heisei University, Toshima-ku, Tokyo 170-8445, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Radiology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Pediatric Urology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Pediatric Urology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Plastic and Reconstructive Surgery, Inonu University Medicine Faculty, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Malatya Educational Research Hospital, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Inonu University Medicine Faculty, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Inonu University Medicine Faculty, Malatya, Turkey. Electronic address: okaslanturk@hotmail.com.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Department of Research Unit, Faculty of Medicine, Toho University, Ota-ku, Tokyo 143-8540, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Publications dans "Maladie de Menkès" :
THIS ARTICLE USES WORDS OR LANGUAGE THAT IS CONSIDERED PROFANE, VULGAR, OR OFFENSIVE BY SOME READERS. Different types of abusive content such as offensive language, hate speech, aggression, etc. have ...
We study the correlation between phylogenetic and geographic distances for the languages of the Andic branch of the East Caucasian (Nakh-Daghestanian) language family. For several alternative phylogen...
To understand the architecture of human language, it is critical to examine diverse languages; however, most cognitive neuroscience research has focused on only a handful of primarily Indo-European la...
This study compares the home language environments of children with (a suspicion of) developmental language disorder (DLD) with that of children with typical development (TD). It does so by adopting n...
Ninety-nine 2- to 4-year-old toddlers participated: 59 with (a suspicion of) DLD and 40 with TD. LENA metrics on adult word count, conversational turn count, and child vocalization count were obtained...
We found lower adult word count, conversational turn count, and child vocalization count in the DLD group, independent of multilingualism but not of parental education. In the DLD group, receptive voc...
Toddlers with (a suspicion of) DLD vocalize less at home than children with TD. They also hear fewer adult words and experience fewer conversational turns. Children with DLD's language outcomes are to...
Functional MR imaging is widely used for preoperative language assessment in candidates for resective neurosurgery. Language mapping paradigms that are adaptive to participant performance have the pot...
Seventy-three patients undergoing fMRI for language lateralization and/or localization completed an adaptive semantic matching paradigm, an adaptive phonological judgment paradigm, and two standard pa...
The adaptive semantic paradigm resulted in the most strongly lateralized activation maps, the greatest extent of frontal and temporal activations, and the greatest proportion of overall satisfactory l...
The adaptive language mapping paradigms investigated have several psychometric advantages compared with currently recommended paradigms. Adoption of these paradigms could increase the likelihood of ob...
Life expectancy has been increasing in recent decades. Therefore, it is important to understand the functional changes during healthy ageing. Most research has mainly focused on one linguistic domain ...
Twenty-three older healthy Hebrew-speaking adults, exhibiting no cognitive decline, were examined on tasks aimed at testing their performance in different language and cognitive domains: lexical retri...
A decline was found in several linguistic domains among the older adults, while in other domains no decline was found. However, no unequivocal decline in linguistic functioning was found due to relati...
Not all linguistic domains are equally vulnerable in ageing, and not all older adults are equally affected. The research has both clinical and theoretical implications....
Recent research suggests that speaking a tone language confers benefits in processing pitch in nonlinguistic contexts such as music. This research largely compares speakers of nontone European languag...
Speech-language pathologists (SLPs) have multiple roles and responsibilities related to language and literacy instruction in schools. The purpose of this exploratory, qualitative study was to analyze ...
Eight school-based SLPs participated in a 1-hr virtual focus group conducted via Zoom recording technology. The researchers used a conventional content analysis approach to analyze the focus group dat...
The researchers developed two themes: (a) SLPs identified repeated exposure to books, peer interaction, and teaching vocabulary with visual supports and props as key elements of language and literacy ...
SLPs identified several instructional practices inclusive pre-K teachers could be taught to use during professional development programs to support the emergent literacy development of children with D...
What language devises, it might divide. By exploring the relations among the core geometries of the physical world, the abstract geometry of Euclid, and language, I give new insight into both the pers...
Consequences of multilingualism vary from offering cognitive benefits to poor educational and cognitive outcomes. One aspect of multilingualism that has not been systematically examined is the typolog...