questionsmedicales.fr
Maladies du système nerveux
Maladies neuromusculaires
Maladies du motoneurone
Amyotrophie spinale
Amyotrophie spinale : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Amyotrophie spinale
Diagnostic médical
Imagerie par résonance magnétique
Diagnostic différentiel
Symptômes
Examen neurologique
Dépistage néonatal
Génétique
Symptômes
5
Symptômes
Faiblesse musculaire
Âge
Types d'amyotrophie spinale
Symptômes respiratoires
Muscles respiratoires
Atrophie musculaire
Observation clinique
Prévention
5
Dépistage néonatal
Intervention précoce
Conseils génétiques
Risques héréditaires
Vaccination
Prévention des infections
Soutien familial
Ressources communautaires
Traitements
5
Thérapie génique
Traitement médical
Thérapie génique
Efficacité du traitement
Médicaments
Traitement pharmacologique
Rééducation
Physiothérapie
Essais cliniques
Traitements expérimentaux
Complications
5
Complications
Infections respiratoires
Problèmes respiratoires
Assistance ventilatoire
Dénutrition
Difficultés alimentaires
Déformations osseuses
Scoliose
Gestion des complications
Approche multidisciplinaire
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Hérédité
Maladies génétiques
Porteurs
Transmission génétique
Facteurs environnementaux
Épidémiologie
Tests génétiques
Porteurs de gènes
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{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
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"text": "Les tests génétiques identifient des mutations dans le gène SMN1, responsable de la maladie."
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"@type": "Question",
"name": "L'IRM est-elle utile pour le diagnostic ?",
"position": 3,
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"text": "L'IRM peut aider à exclure d'autres pathologies, mais n'est pas spécifique à l'amyotrophie spinale."
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"@type": "Question",
"name": "Quels signes cliniques sont observés ?",
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"text": "On observe une faiblesse musculaire, une atrophie et des réflexes diminués lors de l'examen."
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"@type": "Question",
"name": "Peut-on diagnostiquer cette maladie à la naissance ?",
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"@type": "Question",
"name": "Quels sont les symptômes principaux de l'amyotrophie spinale ?",
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"position": 9,
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"@type": "Question",
"name": "L'atrophie musculaire est-elle visible ?",
"position": 10,
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"@type": "Question",
"name": "Peut-on prévenir l'amyotrophie spinale ?",
"position": 11,
"acceptedAnswer": {
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"text": "Actuellement, il n'existe pas de méthode de prévention, mais le dépistage peut aider."
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{
"@type": "Question",
"name": "Le dépistage néonatal est-il utile ?",
"position": 12,
"acceptedAnswer": {
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"text": "Oui, le dépistage néonatal permet de détecter précocement la maladie et d'intervenir."
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{
"@type": "Question",
"name": "Les conseils génétiques sont-ils importants ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les conseils génétiques aident les familles à comprendre les risques et options."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles recommandées ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les vaccinations sont recommandées pour prévenir les infections respiratoires."
}
},
{
"@type": "Question",
"name": "Y a-t-il des mesures de soutien pour les familles ?",
"position": 15,
"acceptedAnswer": {
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"text": "Oui, des groupes de soutien et des ressources sont disponibles pour les familles touchées."
}
},
{
"@type": "Question",
"name": "Quels traitements existent pour l'amyotrophie spinale ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la thérapie génique, les médicaments et la rééducation physique."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle efficace ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la thérapie génique peut améliorer la fonction musculaire et la qualité de vie."
}
},
{
"@type": "Question",
"name": "Quels médicaments sont utilisés ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments comme le nusinersen et le risdiplam sont utilisés pour traiter la maladie."
}
},
{
"@type": "Question",
"name": "La rééducation physique est-elle recommandée ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la rééducation physique aide à maintenir la force musculaire et la mobilité."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des essais cliniques explorent de nouvelles thérapies et approches pour la maladie."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des infections respiratoires, des déformations osseuses et des problèmes nutritionnels."
}
},
{
"@type": "Question",
"name": "Les problèmes respiratoires sont-ils fréquents ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les problèmes respiratoires sont courants et peuvent nécessiter une assistance ventilatoire."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque de dénutrition ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la dénutrition peut survenir en raison de difficultés à avaler et à s'alimenter."
}
},
{
"@type": "Question",
"name": "Les déformations osseuses sont-elles courantes ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des déformations comme la scoliose peuvent se développer en raison de la faiblesse musculaire."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion des complications nécessite une approche multidisciplinaire incluant médecins et thérapeutes."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque de l'amyotrophie spinale ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux et des mutations génétiques spécifiques."
}
},
{
"@type": "Question",
"name": "L'amyotrophie spinale est-elle héréditaire ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'amyotrophie spinale est une maladie héréditaire autosomique récessive."
}
},
{
"@type": "Question",
"name": "Les parents porteurs sont-ils à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les parents porteurs du gène SMN1 peuvent transmettre la maladie à leurs enfants."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de preuves solides de facteurs environnementaux influençant la maladie."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils identifier les porteurs ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent identifier les porteurs du gène SMN1 dans la population."
}
}
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}
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}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 21/11/2025
Contenu vérifié selon les dernières recommandations médicales
6 publications dans cette catégorie
Affiliations :
Paediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. eugeniomaria.mercuri@policlinicogemelli.it.
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. eugeniomaria.mercuri@policlinicogemelli.it.
6 publications dans cette catégorie
Affiliations :
Department of Neurology, Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
6 publications dans cette catégorie
Affiliations :
Departments of Neurology and Pediatrics Columbia University Irving Medical Center New York New York.
4 publications dans cette catégorie
Affiliations :
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
Publications dans "Amyotrophie spinale" :
4 publications dans cette catégorie
Affiliations :
Center for Experimental Neurotherapeutics, Department of Paediatric Medicine, St. Jude Children's Research Hospital, Memphis, TN, USA.
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Affiliations :
Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Affiliations :
Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Affiliations :
Department of Clinical and Molecular Genetics and Rare Diseases Unit Hospital Vall d'Hebron and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER) Barcelona Spain.
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Affiliations :
From the Child Development and Exercise Center (B.B., L.E.H.) and Department of Pediatric Gastroenterology (E.E.S.N.), Wilhelmina Children's Hospital, and UMC Utrecht Brain Center (R.I.W., F.-L.A., R.P.A.v.E., H.S.G., W.L.v.d.P.), University Medical Center Utrecht; Knowledge Institute for Medical Specialists (J.F.d.G.), University of Applied Sciences; and Biostatistics & Research Support (R.P.A.v.E.), Julius Center for Health Sciences and Primary Care, Utrecht, the Netherlands.
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Affiliations :
Department of Neurology, Stanford University, Stanford, CA, USA.
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Affiliations :
Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare, Dipartimento di Neuroscienze e Neuroriabilitazione, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Affiliations :
Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare, Dipartimento di Neuroscienze e Neuroriabilitazione, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Affiliations :
Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Affiliations :
Departments of Neurology (TD, CW, SDY, KAH, JS, JWD), Rehabilitation (CEM), and Radiology (MZ, MW), Stanford University School of Medicine, Palo Alto, CA; Departments of Biostatistics and Computational Biology (MPM), and Neurology (MPM and WBM), University of Rochester Medical Center, NY; Department of Neurology (AP,BTD), Boston Children's Hospital, MA; Department of Neurology (DCD), Columbia University, New York; Department of Neurology (AMG EAK, ZZ) Children's Hospital of Philadelphia, PA; and Department of Pediatrics (RSF) Nemours Children's Hospital, Orlando, FL.
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Affiliations :
Departments of Neurology (TD, CW, SDY, KAH, JS, JWD), Rehabilitation (CEM), and Radiology (MZ, MW), Stanford University School of Medicine, Palo Alto, CA; Departments of Biostatistics and Computational Biology (MPM), and Neurology (MPM and WBM), University of Rochester Medical Center, NY; Department of Neurology (AP,BTD), Boston Children's Hospital, MA; Department of Neurology (DCD), Columbia University, New York; Department of Neurology (AMG EAK, ZZ) Children's Hospital of Philadelphia, PA; and Department of Pediatrics (RSF) Nemours Children's Hospital, Orlando, FL.
Publications dans "Amyotrophie spinale" :
3 publications dans cette catégorie
Affiliations :
Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Department of Rehabilitation & Regenerative Medicine, Program in Physical Therapy, Columbia University, New York, NY.
Publications dans "Amyotrophie spinale" :
2 publications dans cette catégorie
Affiliations :
Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.
Publications dans "Amyotrophie spinale" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Publications dans "Amyotrophie spinale" :
2 publications dans cette catégorie
Publications dans "Amyotrophie spinale" :
Emotional variability has been posited as a risk factor for adolescent psychopathology. However, it is unclear whether parent emotional variability may also function as a risk factor that heightens ad...
Adolescence is a unique time where there are many developmental changes occurring. Teenagers are striving to establish their personal identity as they are also developing a better understanding of the...
In 2021, federal guidelines mandated that health-care organizations share clinicians' notes with patients to increase information transparency. While findings indicate advantages for adult patients, l...
We conducted six focus groups with adolescents, parents, and clinicians at a children's hospital from May to October 2021. A semistructured facilitator guide captured participant perspectives of note-...
38 stakeholders (17 adolescents, 10 parents, and 11 clinicians) described four benefits, three concerns, and four implementation strategies regarding adolescent note-sharing. Potential benefits includ...
Stakeholders suggest multiple strategies to optimize the implementation of note-sharing to support adolescent patients, parents, and clinicians as hospitals work to comply with federal regulations. Th...
Brain-Derived Neurotrophic Factor (BDNF) has been linked to various conditions of the cardiovascular and nervous systems. Scarce data exist about the concentrations of BDNF in children and adolescents...
The prospective associations between homework burdens and adolescent neurobehavioral problems, and whether sleep-durations mediated and sex modified such associations remained unclear....
Using Shanghai-Adolescent-Cohort study, 609 middle-school students were recruited and investigations took place at Grade 6, 7 and 9. Information on homework burdens (defined by homework completion-tim...
Among the 6th-9th graders, the prevalence-rates of sleep-insufficiency and late-bedtime ranged from 44.0 %-55.0 % and 40.3 %-91.6 %, respectively. High homework burdens were concurrently associated wi...
This study was restricted to Shanghai adolescents....
High homework burden had both short-term and long-term associations with adolescent neurobehavioral problems, with stronger associations among girls, and sleep-insufficiency may mediate such associati...
The prevalence of child and adolescent obesity has plateaued at high levels in most high-income countries and is increasing in many low-income and middle-income countries. Obesity arises when a mix of...
Lymphomas in children and adolescents differ from adulthood in relative frequency and variety of entities. In addition, young patients are cared for according to the specific standards of pediatric ly...
To present lymphomas of diagnostic and clinical relevance in the pediatric and adolescent group....
Selective literature research ( http://www.ncbi.nlm.nih.gov ) was combined with clinico-pathological experience of the authors....
Children and adolescents are much more likely to suffer from aggressive and precursor cell lymphoma than is the case in adulthood. Unlike adult patients, Burkitt lymphomas and diffuse large B‑cell lym...
Lymphoma diagnosis in children and adolescents is characterized by the particular spectrum of diseases that occur at this age. Special knowledge about the clinical relevance of the diagnoses in childh...
This article explores metabolic syndrome (MetS) in children and adolescents, shedding light on its significant influence on long-term cardiovascular health outcomes. We navigate the complex landscape ...
Femoroacetabular impingement syndrome (FAIS) is caused by a repetitive mechanical conflict between the acetabulum and the proximal femur, occurring in flexion and internal rotation. In cam impingement...
Providing medical care and managing the health care needs of adolescents can be a complex process. Knowing, which adolescents can consent to health care and the scope of services adolescents can conse...