{"orpha":324290,"name":"PRDM8-related progressive myoclonus epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset Lafora body disease"],"definition":"A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324290/","orphanet_url":"https://www.orpha.net/en/disease/detail/324290","names":{"fr":{"name":"Epilepsie myoclonique progressive associée à PRDM8","synonyms":["Maladie à corps de Lafora à début précoce"],"definition":"Épilepsie myoclonique progressive génétique rare caractérisée par l'apparition dans l'enfance d'une dysarthrie progressive, d'une myoclonie, d'une ataxie, des crises convulsives et d'un déclin cognitif. La maladie évolue de façon prolongée et les patients survivent jusqu'à l'âge adulte en développant des signes cliniques et des symptômes tels que la psychose avec des accès d'agitation et de cris prolongés, la spasticité et l'hyperréflexie, la confusion, le mutisme et l'incontinence. Aucun trouble visuel n'est observé. La biopsie musculaire met en évidence de nombreuses inclusions positives (corps de Lafora) au test de Schiff acide périodique."},"de":{"name":"PRDM8-assoziierte progressive Myoklonus-Epilepsie","synonyms":["Früh beginnende Lafora-Einschlusskörperchen-Krankheit"],"definition":"Eine genetisch bedingte progressive myoklonische Epilepsie, die in der Kindheit mit fortschreitender Dysarthrie, Myoklonus, Ataxie, Krampfanfällen und kognitivem Verfall beginnt. Die Krankheit nimmt einen langwierigen Verlauf, wobei die Patienten bis ins Erwachsenenalter überleben und Anzeichen und Symptome wie Psychosen mit Ausbrüchen anhaltender Unruhe und Schreien, Spastik und Hyperreflexie, Verwirrung, Mutismus und Inkontinenz entwickeln. Es gibt keine visuellen Störungen. Die Muskelbiopsie zeigt zahlreiche periodische Säure-Schiff-positive Einschlüsse, so genannte Lafora-Körperchen."},"es":{"name":"Epilepsia mioclónica progresiva asociada a PRDM8","synonyms":["Enfermedad de cuerpos de Lafora de inicio precoz"],"definition":"Es una epilepsia mioclónica progresiva genética y poco frecuente caracterizada por la aparición en la infancia de disartria, mioclonías, ataxia, crisis y deterioro cognitivo. La enfermedad sigue un curso prolongado y los pacientes sobreviven hasta la edad adulta, desarrollando signos y síntomas como psicosis con episodios prolongados de agitación y gritos, espasticidad e hiperreflexia, confusión, mutismo e incontinencia. No se producen alteraciones visuales. La biopsia muscular muestra numerosas inclusiones positivas en la tinción con ácido peryódico de Schiff corresponientes a los llamados cuerpos de Lafora."},"it":{"name":"Malattia da corpi di Lafora ad esordio precoce","definition":"Si tratta di un'epilessia mioclonica progressiva rara, di origine genetica, che esordisce nell'infanzia con disartria progressiva, mioclono, atassia, crisi epilettiche e declino cognitivo. Il decorso della malattia è lungo; i pazienti sopravvivono fino all'età adulta e sviluppano psicosi con episodi protratti di agitazione e grida, spasticità, iperreflessia, confusione, mutismo e incontinenza. Non si associa ad anomalie della vista. La biopsia muscolare evidenzia numerose inclusioni positive all'acido periodico di Schiff (corpi di Lafora)."},"nl":{"name":"PRDM8-gerelateerde progressieve myoclonusepilepsie","synonyms":["Vroeg optredende ziekte met Lafora-lichaampjes"],"definition":"Een zeldzame, genetische progressieve myoclonusepilepsie, gekarakteriseerd door aanvang in de kindertijd van progressieve dysartrie, myoclonus, ataxie, insulten, en cognitieve achteruitgang. De ziekte kent een langdurig verloop, en patiënten overleven tot in de volwassenheid, met ontwikkeling van verschijnselen en symptomen zoals psychose met uitbarstingen van langdurige agitatie en geschreeuw, spasticiteit en hyperreflexie, verwardheid, mutisme, en incontinentie. Er zijn geen visuele stoornissen aanwezig. Spierbiopsie toont talrijke zogenaamde Lafora-lichaampjes, inclusies die positief zijn voor Schiff-perjoodzuurkleuring."},"pt":{"name":"Epilepsia mioclónica progressiva PRDM8-relacionada","synonyms":["Doença dos corpos de Lafora de início precoce"]},"pl":{"name":"Choroba ciałek Lafora o wczesnym początku","synonyms":["Early-onset Lafora body disease"]},"cs":{"name":"Laforova choroba s časným nástupem","synonyms":["Early-onset Lafora body disease"]},"uk":{"name":"Хвороба Лафора з раннім початком","definition":"A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies."},"zh":{"name":"早发性拉福拉体病","definition":"一种罕见的遗传性进行性肌阵挛性癫痫，以儿童期进行性构音障碍、肌阵挛、共济失调、癫痫发作和认知能力下降为特征。这种疾病有一个漫长的过程，患者存活至成年出现症状和体征，如精神症状，伴有长时间的焦虑和尖叫、痉挛和反射亢进、意识错乱、缄默和失禁，不伴有视觉干扰症状。肌肉活检显示大量周期性酸性希夫阳性内含物，即所谓的拉福拉小体。"},"tr":{"name":"Erken başlangıçlı Lafora vücut hastalığı"}},"xrefs":[{"source":"OMIM","code":"616640","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.41","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014717","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518574","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98261,"name":"Progressive myoclonic epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PRDM8","name":"PR/SET domain 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22961547[PMID]","hgnc":"13993","ensembl":"ENSG00000152784","omim":"616639","loci":["4q21.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22961547[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22961547[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-06","source":"22961547[PMID]","terms":[{"hpo":"HP:0100318","label":"Lafora bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011999","label":"Paranoia","frequency":"Very rare (<4-1%)","criteria":null}]}}