{"orpha":163696,"name":"Action myoclonus-renal failure syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AMRF","EPM4","Myoclonus-nephropathy syndrome","Progressive myoclonic epilepsy type 4","Progressive myoclonus epilepsy type 4"],"definition":"A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163696/","orphanet_url":"https://www.orpha.net/en/disease/detail/163696","names":{"fr":{"name":"Syndrome de myoclonus d'action-insuffisance rénale","synonyms":["AMRF","EPM4","Epilepsie myoclonique progressive type 4"],"definition":"Syndrome d'épilepsie rare caractérisé par une épilepsie myoclonique progressive en association avec une maladie glomérulaire primaire. Les patients présentent des symptômes neurologiques (tremblements, myoclonies d'action, convulsions tonico-cloniques, puis ataxie et dysarthrie) qui peuvent précéder, survenir de manière concomitante ou être suivis de manifestations rénales (dont une protéinurie évoluant vers un syndrome néphrotique et une insuffisance rénale de stade terminal). Certains patients présentent également une neuropathie périphérique sensorimotrice, une surdité neurosensorielle et une cardiomyopathie dilatée."},"de":{"name":"Aktionsmyoklonus-Nierenversagen-Syndrom","synonyms":["AMRF","EPM4","Myoklonus-Nephropathie-Syndrom","Myoklonusepilepsie, progressive, Typ 4"],"definition":"Ein seltenes Epilepsiesyndrom, das durch eine progressive Myoklonus-Epilepsie in Verbindung mit einer primären glomerulären Erkrankung gekennzeichnet ist. Die Patienten zeigen neurologische Symptome (Tremor, Aktionsmyoklonus, tonisch-klonische Anfälle und später Ataxie und Dysarthrie), die vor, gleichzeitig mit oder nach den Nierensymptomen auftreten (einschließlich Proteinurie, die zum nephrotischen Syndrom und zur terminalen Nierenerkrankung führt). Bei einigen Patienten sind eine sensomotorische periphere Neuropathie, ein sensorineuraler Hörverlust und eine dilatative Kardiomyopathie Begleiterscheinungen."},"es":{"name":"Síndrome de mioclonías de acción-insuficiencia renal","synonyms":["AMRF","EPM4","Epilepsia mioclónica progresiva tipo 4","Síndrome de mioclonías-nefropatía"],"definition":"Es un síndrome epiléptico poco frecuente caracterizado por epilepsia mioclónica progresiva junto con enfermedad glomerular primaria. Los afectados presentan síntomas neurológicos (que incluyen temblor, mioclonía de acción, convulsiones tónico-clónicas, ataxia tardía y disartria) que pueden preceder, presentarse simultáneamente o ir seguidos de manifestaciones renales que incluyen proteinuria que progresa a síndrome nefrótico y enfermedad renal terminal. Algunos afectados presentan otros síntomas asociados, tales como neuropatía periférica sensitivo-motora, pérdida auditiva neurosensorial y miocardiopatía dilatada."},"it":{"name":"Sindrome da mioclono d'azione e insufficienza renale","synonyms":["EPM4","Epilessia mioclonica progressiva, tipo 4","Sindrome mioclono-neuropatia"],"definition":"La sindrome che associa il mioclono d'azione e l'insufficienza renale (AMRF) è una forma rara di epilessia, caratterizzata da epilessia mioclonica progressiva e glomerulopatia primitiva. I pazienti presentano sintomi neurologici (tremore, mioclono d'azione, crisi tonico-cloniche e, successivamente, atassia e disartria) che precedono, insorgono contemporaneamente o seguono i sintomi renali (compresa la proteinuria che progredisce verso la sindrome nefrosica e la malattia renale terminale). Alcuni pazienti presentano inoltre una neuropatia sensitivo-motoria periferica, sordità neurosensoriale e cardiomiopatia dilatativa."},"nl":{"name":"Actiemyoclonus - nierfalen-syndroom","synonyms":["AMRF","EPM4","Myoclonus - nefropathie-syndroom","Progressieve myoclonische epilepsie type 4","Progressive myoclonusepilepsie type 4"],"definition":"Een zeldzaam epilepsiesyndroom, gekarakteriseerd door progressieve myoclonusepilepsie geassocieerd met primaire glomerulaire ziekte. Patiënten vertonen neurologische symptomen (waaronder tremor, actiemyoclonus, tonisch-clonische insulten, en na verloop van tijd ataxie en dysartrie) die kunnen voorafgaan aan, samen voorkomen met of volgen op renale manifestaties waaronder proteïnurie die evolueert naar nefrotisch syndroom en terminaal nierfalen. Bij sommige patiënten zijn sensorimotorische perifere neuropathie, sensorineuraal gehoorverlies en gedilateerde cardiomyopathie geassocieerde symptomen."},"pt":{"name":"Síndrome mioclonias de ação - insuficiência renal"},"pl":{"name":"Zespół mioklonii prowokowanych ruchem i niewydolności nerek","synonyms":["EPM4","Postępująca padaczka miokloniczna typu 4","Zespół mioklonii i nefropatii"],"definition":"*Zespół mioklonii prowokowanych ruchem i niewydolności nerek jest rzadkim zespołem padaczkowym, w którym występuje postępująca padaczka miokloniczna z towarzyszącą pierwotną chorobą kłębuszków nerkowych. U pacjentów z objawami neurologicznymi (takimi jak: drżenia, mioklonie prowokowane ruchem, drgawki toniczno-kloniczne, w późniejszym okresie ataksja i dyzartria) mogą wystąpić objawy ze strony nerek, w tym białkomocz, przechodzący w zespół nerczycowy i schyłkową niewydolność nerek, które mogą poprzedzać objawy neurologiczne, występować jednoczasowo lub później. U niektórych pacjentów może wystąpić obwodowa neuropatia czuciowo-ruchowa, niedosłuch zmysłowo-nerwowy i oraz kardiomiopatia rozstrzeniowa.inf brsup inf brsup"},"cs":{"name":"Syndrom zahrnující akční myoklonus a ledvinné selhání","synonyms":["EPM4","Syndrom zahrnující myoklonus a nefropatii","Progresivní myoklonická epilepsie, typ 4"]},"uk":{"name":"Синдром рухового міоклонусу-ниркової недостатності","synonyms":["AMRF","EPM4","Синдром міоклонус-нефропатії","Прогресуюча міоклонічна епілепсія типу 4","Прогресуюча міоклонусна епілепсія типу 4"],"definition":"A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms."},"zh":{"name":"渐进型肌阵挛癫痫4，有或无肾功能衰竭","synonyms":["进行性肌阵挛癫痫4型"],"definition":"一种罕见的癫痫综合征，其特征是进行性肌阵挛性癫痫伴原发性肾小球疾病。患者神经系统症状的表现(包括震颤、动作性肌阵挛、强直阵挛性癫痫发作、晚期共济失调和构音障碍)可能先于或同时或迟于肾脏症状表现。肾脏症状包括进展为肾病综合征和终末期肾病的蛋白尿。一些患者也患有感觉运动性周围神经病、感音神经性听觉丧失和扩张型心肌病。"},"tr":{"name":"Aksiyon miyoklonus-böbrek yetmezliği sendromu","synonyms":["AMRF","EPM4","Miyoklonus-nefropati sendromu","İlerleyici miyoklonik epilepsi tip 4","İlerleyici miyoklonus epilepsi tip 4"]}},"xrefs":[{"source":"OMIM","code":"254900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"GB4Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2057902429"},{"source":"MONDO","code":"0009699","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751779","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SCARB2","name":"scavenger receptor class B member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26677510[PMID]","hgnc":"1665","ensembl":"ENSG00000138760","omim":"602257","loci":["4q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":38.0,"area":"Worldwide","status":"Validated","source":"26677510[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26677510[PMID]"}],"phenotypes":null}