{"orpha":329336,"name":"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult-onset CPEO with mitochondrial myopathy"],"definition":"A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329336/","orphanet_url":"https://www.orpha.net/en/disease/detail/329336","names":{"fr":{"name":"Ophtalmoplégie externe progressive chronique de l'adulte avec myopathie mitochondriale","synonyms":["OEP chronique de l'adulte avec myopathie mitochondriale"],"definition":"L'ophtalmoplégie externe progressive chronique de l'adulte avec myopathie mitochondriale est une maladie mitochondriale rare caractérisée par la survenue à l'âge adulte d'une ophtalmoplégie externe progressive, une intolérance à l'effort, une faiblesse musculaire, des signes d'ataxie spinocérébelleuse (ex. trouble de la démarche, dysarthrie) et une neuropathie périphérique motrice légère. Une insuffisance respiratoire a été rapportée dans certains cas."},"de":{"name":"Ophthalmoplegie, chronische externe progressive, mit mitochondrialer Myopathie, adulte Form","synonyms":["CPEO mit mitochondrialer Myopathie mit Beginn im Erwachsenenalter"]},"es":{"name":"Oftalmoplejía externa progresiva crónica con miopatía mitocondrial de inicio en el adulto","synonyms":["CPEO del adulto con miopatía mitocondrial"],"definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por la aparición, en el adulto, de oftalmoplejía externa progresiva, intolerancia al ejercicio, debilidad muscular, episodios de ataxia espinocerebelosa (p. ej., alteraciones en la marcha, disartria) y leve neuropatía motora periférica. En algunos casos se ha descrito insuficiencia respiratoria."},"it":{"name":"Oftalmoplegia esterna progressiva cronica a esordio nell'età adulta con miopatia mitocondriale","synonyms":["CPEO a esordio nell'età adulta con miopatia mitocondriale"],"definition":"L'oftalmoplegia esterna progressiva cronica ad esordio nell'età adulta con miopatia mitocondriale è una malattia rara dei mitocondri caratterizzata da oftalmoplegia esterna progressiva, intolleranza all'esercizio fisico, debolezza muscolare, segni caratteristici dell'atassia spino-cerebellare (difficoltà alla deambulazione, disartria) e lieve neuropatia periferica motoria ad esordio nell'età adulta. In alcuni casi è presente insufficienza respiratoria."},"nl":{"name":"Chronische progressieve externe oftalmoplegie met mitochondriale myopathie met aanvang op volwassen leeftijd","synonyms":["CPEO met mitochondriale myopathie met aanvang op volwassen leeftijd"],"definition":"Een zeldzame mitochondriale aandoening gekarakteriseerd door aanvang in de volwassenheid van progressieve externe oftalmoplegie, inspanningsintolerantie, spierzwakte, manifestaties van spinocerebellaire ataxie (e.g. gangstoornis, dysartrie) en milde motorische perifere neuropathie. In enkele gevallen werd respiratoire insufficiëntie gerapporteerd."},"pt":{"name":"Oftalmoplegia externa progressiva crónica com miopatia mitocondrial com início no adulto"},"pl":{"name":"Przewlekła postępująca oftalmoplegia zewnętrzna o początku w wieku dorosłym z miopatią mitochondrialną","synonyms":["CPEO o początku w wieku dorosłym z miopatią mitochondrialną"]},"cs":{"name":"Chronická progresivní externí ofthalmoplegie nasedající v dospělosti s mitochondriální myopatií","synonyms":["CPEO s mitochondriální myopatií s nástupem v dospělosti"]},"uk":{"name":"Хронічна прогресуюча зовнішня офтальмоплегія з мітохондріальною міопатією у дорослих","synonyms":["CPEO, що починається у дорослих з мітохондріальної міопатії"],"definition":"A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases."},"zh":{"name":"成人发病型慢性进行性外眼肌麻痹伴线粒体肌病","synonyms":["成人发病型CPEO伴线粒体肌病"],"definition":"一种罕见的线粒体疾病，其特征是成人起病的进行性眼外肌麻痹、运动不耐受、肌肉无力、脊髓小脑共济失调（例如步态受损、构音障碍）和轻度运动性周围神经病变。呼吸功能不全在一些病例中有报道。"},"tr":{"name":"Mitokondriyal miyopati ile seyreden yetişkin başlangıçlı kronik ilerleyici eksternal oftalmopleji","synonyms":["Mitokondriyal miyopati ile seyreden erişkin başlangıçlı CPEO"]}},"xrefs":[{"source":"OMIM","code":"616479","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018002","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511138","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2742,"name":"OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":254767,"name":"Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"RNASEH1","name":"ribonuclease H1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26094573[PMID]","hgnc":"18466","ensembl":"ENSG00000171865","omim":"604123","loci":["2p25.3"]},{"symbol":"RRM2B","name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23107649[PMID]","hgnc":"17296","ensembl":"ENSG00000048392","omim":"604712","loci":["8q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Mitochondrial inheritance"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-23","source":"26094573[PMID]_23446635[PMID]_7732787[PMID]_22987704[PMID]","terms":[{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002522","label":"Areflexia of lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030196","label":"Fatigable weakness of respiratory muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005150","label":"Abnormal atrioventricular conduction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003133","label":"Abnormality of the spinocerebellar tracts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002549","label":"Deficit in phonologic short-term memory","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002406","label":"Limb dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002361","label":"Psychomotor deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null}]}}