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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{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"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": {
"@type": "Answer",
"text": "Oui, elles montrent des anomalies typiques, comme des cheveux frisés et cassants."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent cette maladie ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des retards de développement, des troubles neurologiques et des cheveux anormaux sont des indicateurs."
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{
"@type": "Question",
"name": "À quel âge se manifeste la maladie ?",
"position": 5,
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"@type": "Question",
"name": "Quels sont les symptômes principaux ?",
"position": 6,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les problèmes neurologiques sont-ils fréquents ?",
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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": {
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"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": {
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"@type": "Question",
"name": "Peut-on prévenir la maladie de Menkès ?",
"position": 11,
"acceptedAnswer": {
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"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."
}
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{
"@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."
}
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}
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" :
With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microdu...
This retrospectively study included 131 fetuses with TE identified by ultrasonography. Conventional karyotyping and SNP array analysis were performed for all the subjects. They were divided into isola...
Among the total of 131 fetuses, karyotype analysis found 12(9.2%) abnormal results, while SNP array found 27 (20.6%) cases. Trisomy 18 was detected most frequently among abnormal karyotypes. The detec...
Fetal TE is related to chromosomal microdeletion or microduplication. Prenatal diagnosis is recommended for fetuses with TE, and CMA testing is preferred. CMA can improve the detection rate of chromos...
Differential methylation (DM) is actively recruited in different types of fundamental and translational studies. Currently, microarray- and NGS-based approaches for methylation analysis are the most w...
To investigate the efficacy and outcomes of chromosomal microarray (CMA) in the cytogenomic evaluation of products of conception (POC)....
Over a 42-month period, 323 POC samples were tested by CMA. Results were assessed using variables including phenotype, gestational age, results from orthogonal testing, and follow-up parental analysis...
CMA identified cytogenetic abnormalities in 47.4% of first trimester losses and 10.9% of second and third trimester losses. Chromosomal microarray results specifically from 5 to 7-week losses showed s...
Our findings of specific types of genetic abnormalities and the respective frequencies by gestational age closely align with those of published karyotype studies, supporting the use of routine CMA tes...
Background Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with ...
Emerging studies suggest that whole genome sequencing provides additional diagnostic yield of genomic variants when compared with chromosomal microarray analysis in the etiologic diagnosis of infants ...
This study aimed to evaluate the accuracy, efficacy, and incremental yield of whole genome sequencing in comparison with chromosomal microarray analysis for routine prenatal diagnosis....
In this prospective study, a total of 185 unselected singleton fetuses with ultrasound-detected structural anomalies were enrolled. In parallel, each sample was subjected to whole genome sequencing an...
Overall, genetic diagnoses using whole genome sequencing were obtained for 28 (15.1%) cases. Whole genome sequencing not only detected all these aneuploidies and copy number variations in the 20 (10.8...
Compared with chromosomal microarray analysis, whole genome sequencing increased the additional detection rate by 5.9% (11/185). Using whole genome sequencing, we detected not only aneuploidies and co...
The current study aimed to compare the characteristics of chromosome abnormalities detected by conventional G-banding karyotyping, chromosome microarray analysis (CMA), or fluorescence in situ hybridi...
From March 2019 to March 2021, 3710 amniocentesis samples were retrospectively collected from women who accepted prenatal diagnosis at 16 to 22 + 6 weeks of pregnancy. The pregnant women underwent kar...
In total, 3710 G-banding karyotype results and CMA results from invasive prenatal diagnosis were collected. Of these, 201 (5.41%) fetuses with an abnormal karyotype were observed. The CMA analysis sho...
Conventional G-banding karyotyping and CMA have their own advantages and limitations. A combination of karyotype analysis and CMA can increase the detection rate of chromosome abnormalities and make u...
Chromosomal microarray analysis (CMA) is considered a first-tier test for patients with developmental disabilities and congenital anomalies and is also routinely applied in prenatal diagnosis. The cur...
Autism spectrum disorder (ASD) is characterized by high heritability estimates and recurrence rates; its genetic underpinnings are very heterogeneous and include variable combinations of common and ra...
The aim of this study was to evaluate both diagnostic yield and clinical impact of aCGH in 329 ASD patients of Italian descent....
Pathogenic/likely pathogenic CNVs were identified in 50/329 (15.2%) patients, whereas 89/329 (27.1%) carry variants of uncertain significance. The 10 most enriched gene sets identified by Gene Ontolog...
This study confirms the satisfactory diagnostic yield of aCGH, underscoring its potential for better, more in-depth care of children with autism when genetic results are analyzed also with a focus on ...
Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of infertility cases, the exact aetiology is stil...
This study was performed to assess the optimal resolution for prenatal testing by array comparative genomic hybridization (aCGH), aiming to balance between maximum diagnostic yield and minimal detecti...
This was a prospective study using data of 2,336 fetuses that underwent invasive prenatal diagnosis, and the samples were analyzed by aCGH. In total, six different aCGH platforms were studied; four di...
The diagnostic yield of copy number variants increased with increasing level of analysis. The detection rates of clinically significant chromosomal abnormalities were almost the same across our target...
It appears that the targeted array platform with 0.5 Mb backbone resolution and 0.05 Mb on targeted gene-rich regions is optimal for routine chromosomal microarray analysis use in prenatal diagnosis. ...