Les femmes sont-elles plus à risque que les hommes ?
Non, la maladie affecte les hommes et les femmes de manière égale, sans prédisposition de sexe.
SexeÉpidémiologieFacteurs de risque
#5
Les mutations génétiques sont-elles toujours présentes ?
Oui, la plupart des cas de maladie de Lafora sont associés à des mutations dans les gènes EPM2A ou EPM2B.
Mutations génétiquesGènes EPM2AGènes EPM2B
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Maladie de Lafora : Questions médicales les plus fréquentes",
"headline": "Maladie de Lafora : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Maladie de Lafora : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-02-16",
"dateModified": "2025-02-10",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Maladie de Lafora"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Maladies neurodégénératives héréditaires",
"url": "https://questionsmedicales.fr/mesh/D020271",
"about": {
"@type": "MedicalCondition",
"name": "Maladies neurodégénératives héréditaires",
"code": {
"@type": "MedicalCode",
"code": "D020271",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C16.320.400"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Maladie de Lafora",
"alternateName": "Lafora Disease",
"code": {
"@type": "MedicalCode",
"code": "D020192",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Berge A Minassian",
"url": "https://questionsmedicales.fr/author/Berge%20A%20Minassian",
"affiliation": {
"@type": "Organization",
"name": "Division of Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA."
}
},
{
"@type": "Person",
"name": "Pascual Sanz",
"url": "https://questionsmedicales.fr/author/Pascual%20Sanz",
"affiliation": {
"@type": "Organization",
"name": "Lafora Epilepsy Cure Initiative, Epilepsy and Brain Metabolism Center, and Center for Structural Biology, University of Kentucky College of Medicine, Lexington, KY 40536, USA."
}
},
{
"@type": "Person",
"name": "Matthew S Gentry",
"url": "https://questionsmedicales.fr/author/Matthew%20S%20Gentry",
"affiliation": {
"@type": "Organization",
"name": "Department of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA; Lafora Epilepsy Cure Initiative, University of Kentucky College of Medicine, Lexington, KY 40536, USA; University of Kentucky Epilepsy & Brain Metabolism Alliance, University of Kentucky College of Medicine, Lexington, KY 40536, USA. Electronic address: matthew.gentry@uky.edu."
}
},
{
"@type": "Person",
"name": "Francesca Bisulli",
"url": "https://questionsmedicales.fr/author/Francesca%20Bisulli",
"affiliation": {
"@type": "Organization",
"name": "IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. francesca.bisulli@unibo.it."
}
},
{
"@type": "Person",
"name": "Marina P Sánchez",
"url": "https://questionsmedicales.fr/author/Marina%20P%20S%C3%A1nchez",
"affiliation": {
"@type": "Organization",
"name": ""
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Lafora disease: a case report.",
"datePublished": "2022-10-03",
"url": "https://questionsmedicales.fr/article/36192771",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1186/s13256-022-03537-x"
}
},
{
"@type": "ScholarlyArticle",
"name": "Utilization of skin biopsy for diagnosis in a case of Lafora disease.",
"datePublished": "2022-07-06",
"url": "https://questionsmedicales.fr/article/35708461",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1111/cup.14275"
}
},
{
"@type": "ScholarlyArticle",
"name": "Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders.",
"datePublished": "2023-02-24",
"url": "https://questionsmedicales.fr/article/36899857",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/cells12050722"
}
},
{
"@type": "ScholarlyArticle",
"name": "P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease.",
"datePublished": "2023-01-10",
"url": "https://questionsmedicales.fr/article/36638890",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.nbd.2023.105998"
}
},
{
"@type": "ScholarlyArticle",
"name": "Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.",
"datePublished": "2023-09-02",
"url": "https://questionsmedicales.fr/article/37658439",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1186/s13023-023-02880-6"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Malformations et maladies congénitales, héréditaires et néonatales",
"item": "https://questionsmedicales.fr/mesh/D009358"
},
{
"@type": "ListItem",
"position": 3,
"name": "Maladies génétiques congénitales",
"item": "https://questionsmedicales.fr/mesh/D030342"
},
{
"@type": "ListItem",
"position": 4,
"name": "Maladies neurodégénératives héréditaires",
"item": "https://questionsmedicales.fr/mesh/D020271"
},
{
"@type": "ListItem",
"position": 5,
"name": "Maladie de Lafora",
"item": "https://questionsmedicales.fr/mesh/D020192"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Maladie de Lafora - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Maladie de Lafora",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-04-28",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Maladie de Lafora",
"description": "Comment diagnostique-t-on la maladie de Lafora ?\nQuels tests sont utilisés pour confirmer le diagnostic ?\nQuels sont les signes cliniques initiaux ?\nLa maladie de Lafora est-elle héréditaire ?\nQuel âge est typique pour le diagnostic ?",
"url": "https://questionsmedicales.fr/mesh/D020192#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Maladie de Lafora",
"description": "Quels sont les symptômes principaux de la maladie de Lafora ?\nY a-t-il des symptômes non neurologiques ?\nComment évoluent les symptômes au fil du temps ?\nLes crises sont-elles toujours présentes ?\nLes patients présentent-ils des troubles cognitifs ?",
"url": "https://questionsmedicales.fr/mesh/D020192#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Maladie de Lafora",
"description": "Quel est le traitement principal de la maladie de Lafora ?\nLes régimes alimentaires peuvent-ils aider ?\nY a-t-il des thérapies complémentaires recommandées ?\nLes médicaments sont-ils efficaces pour tous les patients ?\nDes interventions chirurgicales sont-elles possibles ?",
"url": "https://questionsmedicales.fr/mesh/D020192#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Maladie de Lafora",
"description": "Quelles sont les complications possibles de la maladie de Lafora ?\nLa maladie peut-elle entraîner des problèmes de santé mentale ?\nLes crises peuvent-elles être mortelles ?\nComment la maladie affecte-t-elle la vie quotidienne ?\nY a-t-il un risque accru de maladies associées ?",
"url": "https://questionsmedicales.fr/mesh/D020192#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Maladie de Lafora",
"description": "Quels sont les facteurs de risque de la maladie de Lafora ?\nLa consanguinité augmente-t-elle le risque ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes femmes sont-elles plus à risque que les hommes ?\nLes mutations génétiques sont-elles toujours présentes ?",
"url": "https://questionsmedicales.fr/mesh/D020192#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostique-t-on la maladie de Lafora ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur l'analyse clinique, l'EEG et la biopsie cérébrale montrant des corps de Lafora."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour confirmer le diagnostic ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests génétiques et une imagerie cérébrale peuvent également être utilisés pour confirmer le diagnostic."
}
},
{
"@type": "Question",
"name": "Quels sont les signes cliniques initiaux ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les signes initiaux incluent des crises myocloniques et des troubles de la coordination."
}
},
{
"@type": "Question",
"name": "La maladie de Lafora est-elle héréditaire ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle est généralement héréditaire, souvent transmise de manière autosomique récessive."
}
},
{
"@type": "Question",
"name": "Quel âge est typique pour le diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic est souvent posé chez les adolescents, généralement entre 10 et 20 ans."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes principaux de la maladie de Lafora ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des crises épileptiques, des troubles cognitifs et des mouvements anormaux."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes non neurologiques ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes non neurologiques peuvent inclure des troubles du sommeil et des changements d'humeur."
}
},
{
"@type": "Question",
"name": "Comment évoluent les symptômes au fil du temps ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes s'aggravent généralement avec le temps, entraînant une perte de la fonction motrice."
}
},
{
"@type": "Question",
"name": "Les crises sont-elles toujours présentes ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les crises sont un symptôme constant, mais leur fréquence et leur type peuvent varier."
}
},
{
"@type": "Question",
"name": "Les patients présentent-ils des troubles cognitifs ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles cognitifs, y compris des problèmes de mémoire et d'apprentissage, sont fréquents."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal de la maladie de Lafora ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de traitement curatif, mais des médicaments antiépileptiques peuvent aider à contrôler les crises."
}
},
{
"@type": "Question",
"name": "Les régimes alimentaires peuvent-ils aider ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un régime cétogène peut être bénéfique pour certains patients en réduisant la fréquence des crises."
}
},
{
"@type": "Question",
"name": "Y a-t-il des thérapies complémentaires recommandées ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies comme la physiothérapie et l'ergothérapie peuvent aider à améliorer la qualité de vie."
}
},
{
"@type": "Question",
"name": "Les médicaments sont-ils efficaces pour tous les patients ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, l'efficacité des médicaments varie d'un patient à l'autre, nécessitant des ajustements."
}
},
{
"@type": "Question",
"name": "Des interventions chirurgicales sont-elles possibles ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "La chirurgie n'est généralement pas une option, car la maladie est diffuse et affecte le cerveau entier."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles de la maladie de Lafora ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des chutes, des blessures dues aux crises et une détérioration cognitive."
}
},
{
"@type": "Question",
"name": "La maladie peut-elle entraîner des problèmes de santé mentale ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent développer des troubles de l'humeur et de l'anxiété en raison de la maladie."
}
},
{
"@type": "Question",
"name": "Les crises peuvent-elles être mortelles ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Dans certains cas, les crises peuvent entraîner des blessures graves ou la mort subite."
}
},
{
"@type": "Question",
"name": "Comment la maladie affecte-t-elle la vie quotidienne ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle peut limiter l'autonomie, nécessitant un soutien constant pour les activités quotidiennes."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies associées ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent être à risque accru de maladies neurologiques et métaboliques."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque de la maladie de Lafora ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux d'épilepsie et les mutations génétiques sont des facteurs de risque connus."
}
},
{
"@type": "Question",
"name": "La consanguinité augmente-t-elle le risque ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la consanguinité peut augmenter le risque de transmission de la maladie de Lafora."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de preuves solides que les facteurs environnementaux influencent la maladie."
}
},
{
"@type": "Question",
"name": "Les femmes sont-elles plus à risque que les hommes ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la maladie affecte les hommes et les femmes de manière égale, sans prédisposition de sexe."
}
},
{
"@type": "Question",
"name": "Les mutations génétiques sont-elles toujours présentes ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la plupart des cas de maladie de Lafora sont associés à des mutations dans les gènes EPM2A ou EPM2B."
}
}
]
}
]
}
Lafora Epilepsy Cure Initiative, Epilepsy and Brain Metabolism Center, and Center for Structural Biology, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
Institute of Biomedicine of Valencia, CSIC and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia 46010, Spain.
Department of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA; Lafora Epilepsy Cure Initiative, University of Kentucky College of Medicine, Lexington, KY 40536, USA; University of Kentucky Epilepsy & Brain Metabolism Alliance, University of Kentucky College of Medicine, Lexington, KY 40536, USA. Electronic address: matthew.gentry@uky.edu.
Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deteriora...
We report a rare case of Lafora disease in a 16-year-old Albanian girl who presented at a tertiary health care center with generalized tonic-clonic seizures, eyelid twitches, hallucinations, headache,...
Even though rare as a condition, Lafora disease should be considered on differential diagnosis in progressive and drug-refractory epilepsy in adolescents, especially when followed by cognitive decline...
Lafora disease is a rare inherited neurodegenerative disease with onset in adolescence. Patients present with progressive myoclonic seizures and cognitive decline. The disease is linked to mutations i...
Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. The initial symptoms of this condition are most commonly epileptic seizures, but the disease ...
Laforin and Malin are two proteins that are encoded by the genes EPM2A and EPM2B, respectively. Laforin is a glucan phosphatase and Malin is an E3-ubiquitin ligase, and these two proteins function as ...
Lafora disease (LD) is a fatal form of progressive myoclonic epilepsy caused by biallelic pathogenic variants in EPM2A or NHLRC1. With a few exceptions, the influence of genetic factors on disease pro...
We collected all reported cases with genetically-confirmed LD containing data on disease history. Pathogenic variants were classified into missense (MS) and protein-truncating (PT). Three genotype cla...
250 cases described in 70 articles were included. The mutated gene was NHLRC1 in 56% and EPM2A in 44% of cases. 114 pathogenic variants (67 EPM2A; 47 NHLRC1) were identified. The NHLRC1 genotype PT/PT...
This study demonstrates the existence of prognostic genetic factors in LD, namely the genotype defined according to the functional impact of the pathogenic variants. Although the reasons why NHLRC1 ge...
Lafora disease (LD) is an ultrarare fatal progressive myoclonic epilepsy, causing drug-resistant epilepsy, myoclonus and psychomotor deterioration. LD is caused by mutations in EPM2A or NHLRC1, which ...
The study is a phase 2, single-arm, open-label, baseline-controlled clinical trial which will be conducted in a single investigational study centre in Italy, namely the sponsor 'IRCCS Istituto delle S...
The study protocol was approved by the local ethics committee (number 232-2023-FARM-AUSLBO-23020, 22 March 2023). The results of this study will be disseminated by the investigators through presentati...
European Union Clinical Trials Register (EudraCT 2023-000185-34)....
Lafora disease is a rare and fatal form of progressive myoclonic epilepsy typically occurring early in adolescence. Common symptoms include seizures, dementia, and a progressive neurological decline l...
Lafora disease is a rare and fatal form of progressive myoclonic epilepsy typically occurring early in adolescence. The disease results from mutations in the EPM2A gene, encoding laforin, or the EPM2B...
Lafora disease (LD) is a neurodegenerative condition characterized by the accumulation of polyglucosan bodies (PBs) throughout the brain. Alongside metabolic and molecular alterations, neuroinflammati...
To investigate the role of astrocytes and microglia in LD, we performed a systematic review according to the PRISMA statement. PubMed, Scopus, and Web-of-Science database searches were performed indep...
Thirty-five studies analyzing the relationship of astrocytes and microglia with LD and/or the effects of anti-inflammatory treatments in LD animal models were identified and included in the review. Al...
Given the evidence for the role of neuroinflammation in LD, future studies should consider glial cells as a potential therapeutic target for modifying/delaying LD progression; however, it should be ke...
The aim of this study was to elucidate the electro-clinical features and management of the late stage of Lafora disease (LD)....
We investigated the electro-clinical data and medical complications of three LD patients with mutations in...
The late stage emerged after a mean period of 7 ± 1.41 years from the onset of the disease. All patients developed gait ataxia becoming bedbound with severe dementia. Pluri-monthly and drug-resistant ...
Status epilepticus with prominent motor symptoms of different subtypes, often responsive to IV phenytoin, and multiple medical complications characterize the LD late stage. An effective management req...