{"orpha":508093,"name":"MEPAN syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive childhood-onset dystonia, DYT29 type","Childhood-onset generalized dystonia-optic atrophy syndrome","DYT29","Dystonia 29","Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome"],"definition":"A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-508093/","orphanet_url":"https://www.orpha.net/en/disease/detail/508093","names":{"fr":{"name":"Syndrome neurodégénératif associée à l'énoyl-CoA réductase mitochondriale","synonyms":["DYT29","Dystonie 29","Dystonie autosomique récessive de l'enfant, type DYT29","Syndrome MEPAN","Syndrome de dystonie généralisée-atrophie optique de l'enfant"],"definition":"Maladie neurologique génétique rare caractérisée par une dystonie apparaissant dans l'enfance et des changements distincts au niveau des ganglions de la base mis en évidence par l'IRM, et une atrophie optique se développant immédiatement ou quelques années après l'apparition de la dystonie. Les autres signes cliniques incluent la chorée et d'autres mouvements anormaux, la dysarthrie ou le nystagmus. Le handicap moteur évolue progressivement, tandis que les fonctions cognitives sont relativement épargnées."},"de":{"name":"MEPAN-Syndrom","synonyms":["Autosomal-rezessive Dystonie mit Beginn im Kindesalter, Typ DYT29","DYT29","Dystonie 29","Im Kindesalter beginnende generalisierte Dystonie-Optikusatrophie-Syndrom","Mitochondriale Enoyl-CoA Reduktase-Protein-assoziierte Neurodegeneration"],"definition":"Eine seltene genetisch bedingte neurologische Störung, die durch eine im Kindesalter auftretende Dystonie mit ausgeprägten MRT-Veränderungen in den Basalganglien und einer Optikusatrophie gekennzeichnet ist, die sich entweder sofort oder innerhalb weniger Jahre nach Auftreten der Dystonie entwickelt. Weitere Symptome sind unter anderem Chorea und andere Bewegungsstörungen, Dysarthrie oder Nystagmus. Die motorische Behinderung schreitet allmählich voran, während die kognitiven Funktionen relativ gut erhalten bleiben."},"es":{"name":"Síndrome MEPAN","synonyms":["Síndrome neurodegenerativo asociado a la proteína mitocondrial enoil CoA reductasa","DYT29","Distonía 29","Distonía autosómica recesiva de inicio en la infancia tipo DYT29","Síndrome de distonía generalizada-atrofia óptica de inicio en la infancia"],"definition":"Es un trastorno neurológico de origen genético poco frecuente caracterizado por una distonía de inicio en la infancia con cambios distintivos en la RM en los ganglios basales y atrofia óptica que debuta inmediatamente o pocos años después de la aparición de la distonía. Los síntomas adicionales incluyen corea y otros trastornos del movimiento, disartria o nistagmo, entre otros. La discapacidad motora progresa gradualmente, mientras que la función cognitiva está relativamente conservada."},"it":{"name":"Sindrome MEPAN","synonyms":["DYT29","Distonia 29","Distonia autosomica recessiva a esordio nell'infanzia, tipo DYT29","Sindrome distonia generalizzata-atrofia ottica a esordio nell'infanzia","Sindrome neurodegenerativa associata alla proteina enoil-CoA-reduttasi mitocondriale"],"definition":"Si tratta di una malattia neurologica genetica rara, caratterizzata da distonia ad esordio infantile con alterazioni tipiche dei gangli basali evidenti alla RMN, e atrofia ottica che si manifesta immediatamente oppure alcuni anni dopo l'esordio della distonia. Altri segni clinici sono la corea e altri disturbi del movimento, la disartria e il nistagmo. La disabilità motoria progredisce gradualmente, mentre la funzione cognitiva è relativamente risparmiata."},"nl":{"name":"MEPAN-syndroom","synonyms":["Autosomaal recessieve dystonie met aanvang in de kindertijd, DYT29-type","DYT29","Dystonie 29","Gegeneraliseerde dystonie met aanvang in de kindertijd - opticusatrofie-syndroom","Mitochondriale enoyl-CoA-reductase proteïne-geassocieerde neurodegeneratie-syndroom"],"definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door aanvang in de kindertijd van dystonie met typische MRI-veranderingen in basale ganglia, en opticusatrofie die onmiddellijk of enkele jaren na het verschijnen van dystonie ontwikkelt. Bijkomende symptomen zijn onder meer chorea en andere bewegingsstoornissen, dysartrie, en nystagmus. Progressie van motorische invaliditeit verloopt gradueel, terwijl cognitieve functie relatief gespaard blijft."},"pt":{"name":"Síndrome MEPAN"},"pl":{"name":"Zespół MEPAN","synonyms":["DYT29","Dystonia 29","Autosomalna recesywna dystonia o wczesnym początku w dzieciństwie, typu DYT29","Zespół uogólnionej dystonii wieku dziecięcego z zanikiem nerwu wzrokowego","Zespół neurozwyrodnieniowy związany z białkiem mitochondrialnym reduktazy enoilo-CoA"]},"cs":{"name":"Syndrom MEPAN","synonyms":["DYT29","Dystonie 29","Syndrom neurodegenerace asociovaný s proteinem mitochondriální enoyl CoA reduktázy","Autozomálně recesivní dětská dystonie, typ DYT29","Syndrom zahrnující generalizovanou dystonii s nástupem v dětství a oční atrofii"]},"uk":{"name":"Синдром MEPAN","synonyms":["Автосомно-рецесивна дистонія, що починається в дитинстві, тип DYT29","Синдром генералізованої дистонії-атрофії зорового нерва, що починається в дитинстві","Дистонія 29","DYT29","Мітохондріальна енойл КоА-редуктаза - протеїн-асоційований синдром нейродегенерації"],"definition":"A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared."},"zh":{"name":"MEPAN综合症","synonyms":["线粒体烯酰CoA还原酶蛋白相关神经退行性变性综合征"],"definition":"一种罕见的遗传性神经系统疾病，其特点是儿童期肌张力障碍，基底神经节有明显的MRI变化，肌张力障碍出现后立即或在几年内出现视神经萎缩。其他症状包括舞蹈症和其他运动障碍、构音障碍或眼球震颤等。运动障碍会逐渐进展，而认知功能则相对较好。"},"tr":{"name":"MEPAN sendromu","synonyms":["DYT29","Distoni 29","Otozomal çekinik çocukluk çağında başlayan distoni, DYT29 tipi","Çocukluk çağı başlangıçlı jeneralize distoni-optik atrofi sendromu","Mitokondriyal enoyl CoA redüktaz proteini ile ilişkili nörodejenerasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"617282","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"15003","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310634","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13488","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":401854,"name":"Lipoic acid biosynthesis defect","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"MECR","name":"mitochondrial trans-2-enoyl-CoA reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27817865[PMID]","hgnc":"19691","ensembl":"ENSG00000116353","omim":"608205","loci":["1p35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"27817865[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27817865[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-09-22","source":"31070877[PMID]_33401012[PMID]_27817865[PMID]_31137067[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031206","label":"Striatal T2 hyperintensity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012179","label":"Craniofacial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002530","label":"Axial dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011923","label":"Decreased activity of mitochondrial complex I","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008314","label":"Decreased activity of mitochondrial complex II","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008347","label":"Decreased activity of mitochondrial complex IV","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012707","label":"Elevated brain lactate level by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025312","label":"Esophoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032005","label":"Hemidystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null}]}}