{"orpha":401768,"name":"Proximal myopathy with extrapyramidal signs","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401768/","orphanet_url":"https://www.orpha.net/en/disease/detail/401768","names":{"fr":{"name":"Myopathie proximale avec signes extrapyramidaux","definition":"Myopathie non dystrophique héréditaire rare, caractérisée par une faiblesse musculaire proximale, un retard de développement moteur, des difficultés d'apprentissage et des signes moteurs résultant d'une atteinte progressive du système extrapyramidal, à savoir chorée, dystonie et tremblements. D'autres caractéristiques, variables, ont été rapportées&nbsp;: ataxie, microcéphalie, ophtalmoplégie, ptosis et atrophie optique."},"de":{"name":"Proximale Myopathie mit extrapyramidalen Zeichen"},"es":{"name":"Miopatía proximal con signos extrapiramidales","definition":"La miopatía proximal con signos extrapiramidales, es una miopatía no distrófica, hereditaria y poco frecuente, caracterizada por debilidad muscular proximal, retraso del desarrollo motor, dificultades de aprendizaje y signos motores extrapiramidales progresivos que incluyen corea, distonía y temblor. También se han descrito otras características variables, tales como ataxia, microcefalia, oftalmoplejía, ptosis y atrofia óptica."},"it":{"name":"Miopatia prossimale con segni extrapiramidali","definition":"La miopatia prossimale con segni extrapiramidali è una miopatia non distrofica ereditaria rara, caratterizzata da debolezza dei muscoli prossimali, ritardo dello sviluppo motorio, difficoltà di apprendimento e segni motori extrapiramidali progressivi, che comprendono la corea, la distonia e il tremore. I pazienti possono anche presentare atassia, microcefalia, oftalmoplegia, ptosi ed atrofia ottica."},"nl":{"name":"Proximale myopathie met extrapiramidale tekenen","definition":"Proximale myopathie met extrapiramidale tekenen is een zeldzame, erfelijke, niet-dystrofische myopathie die gekarakteriseerd wordt door zwakheid van proximale spieren, motorische ontwikkelingsachterstand, leermoeilijkheden, en progressieve extrapiramidale motorische tekenen waaronder chorea, dystonie en tremor. Er werden variabele bijkomende kenmerken gerapporteerd, zijnde ataxie, microcefalie, oftalmoplegie, ptose, en opticusatrofie."},"pt":{"name":"Miopatia proximal com sinais extrapiramidais"},"pl":{"name":"Miopatia proksymalna z objawami pozapiramidowymi","definition":"*Miopatia proksymalna z objawami pozapiramidowymi jest rzadką, dziedziczną, niedystroficzną miopatią, która charakteryzuje się proksymalnym osłabieniem mięśni, opóźnionym rozwojem ruchowym, trudnościami w uczeniu się i postępującymi pozapiramidowymi objawami ruchowymi, takim jak pląsawica, dystonia i drżenia. Opisywano różne dodatkowe objawy, takie jak ataksja, małogłowie, oftalmoplegia (niedowład mięśni gałkoruchowych), opadanie powiek i zanik nerwu wzrokowego."},"cs":{"name":"Proximální myopatie s extrapyramidovými příznaky"},"uk":{"name":"Проксимальна міопатія з екстрапірамідними порушеннями","definition":"Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy."},"zh":{"name":"近端肌病伴锥体外系体征","definition":"锥体外系近端肌病是一种罕见的遗传性非营养不良肌病，以近端肌肉无力、运动发育迟缓、学习困难和进行性锥体外系运动体征(包括舞蹈病、肌张力障碍和震颤)为特征。共济失调、小头畸形、眼肌麻痹、上睑下垂和视神经萎缩等附加可变特征也已被报道。"},"tr":{"name":"Ekstrapiramidal belirtiler ile seyreden proksimal miyopati"}},"xrefs":[{"source":"OMIM","code":"615673","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014300","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749430","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12978","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":307058,"name":"Miscellaneous movement disorder due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306695,"name":"Miscellaneous movement disorder due to neurodegenerative disease","classifications":[181]},{"orpha":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MICU1","name":"mitochondrial calcium uptake 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24336167[PMID]","hgnc":"1530","ensembl":"ENSG00000107745","omim":"605084","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"24336167[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24336167[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-20","source":"24336167[PMID]","terms":[{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030230","label":"Central core regions in muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003687","label":"Centrally nucleated skeletal muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007153","label":"Progressive extrapyramidal movement disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007158","label":"Progressive extrapyramidal muscular rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Excluded (0%)","criteria":null}]}}