{"orpha":254886,"name":"Autosomal recessive progressive external ophthalmoplegia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["arPEO"],"definition":"A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254886/","orphanet_url":"https://www.orpha.net/en/disease/detail/254886","names":{"fr":{"name":"Ophtalmoplégie externe progressive autosomique récessive","synonyms":["OEPar","arPEO"],"definition":"Maladie neuro-ophtalmologique génétique rare, caractérisée par une faiblesse progressive des muscles oculaires externes, entraînant un ptosis bilatéral et une ophtalmoparésie diffuse et symétrique. Les autres signes peuvent inclure une faiblesse musculaire squelettique généralisée, une atrophie musculaire, une neuropathie axonale sensorielle, une ataxie, une cardiomyopathie et des symptômes psychiatriques. Il s'agit d'une forme généralement plus grave que la forme autosomique dominante."},"de":{"name":"Ophthalmoplegie, externe progressive, autosomal-rezessive","synonyms":["arPEO"],"definition":"Eine genetisch bedingte neuro-ophthalmologische Erkrankung, die durch eine fortschreitende Schwäche der äußeren Augenmuskeln gekennzeichnet ist und zu einer beidseitigen Ptose und einer diffusen, symmetrischen Ophthalmoparese führt. Sie kann mit einer generalisierten Skelettmuskelschwäche, Muskelatrophie, sensorischer axonaler Neuropathie, Ataxie, Kardiomyopathie und psychiatrischen Symptomen einhergehen.Die autosomal-rezessive Form verläuft in der Regel schwerer als die autosomal-dominante Form."},"es":{"name":"Oftalmoplejia externa progresiva autosómica recesiva","synonyms":["arPEO"],"definition":"Es una enfermedad neuro-oftalmológica, de origen genético y poco frecuente, caracterizada por debilidad progresiva de los músculos extraoculares, resultando en ptosis bilateral y en oftalmoparesia simétrica difusa. Otros signos adicionales pueden incluir debilidad musculoesquelética generalizada, atrofia muscular, neuropatía axonal sensitiva, ataxia, miocardiopatía y síntomas psiquiátricos. Por lo general, es más grave que la forma autosómica dominante."},"it":{"name":"Oftalmoplegia esterna progressiva autosomica recessiva","synonyms":["arPEO"],"definition":"Si tratta di una malattia neuro-oftalmica genetica rara, caratterizzata da debolezza progressiva dei muscoli esterni dell'occhio, che esita nella ptosi bilaterale e nell'oftalmoparesi simmetrica diffusa. Può associarsi anche a debolezza generalizzata dei muscoli scheletrici, atrofia muscolare, neuropatia assonale sensitiva, atassia, cardiomiopatia e sintomi psichiatrici. Di solito è più grave rispetto alla forma autosomica dominante."},"nl":{"name":"Autosomaal recessieve progressieve externe oftalmoplegie","synonyms":["arPEO"],"definition":"Een zeldzame, genetische, neuro-oftalmologische ziekte, gekarakteriseerd door progressieve zwakte van de uitwendige oogspieren die leidt tot bilaterale ptose en diffuse, symmetrische oftalmoparese. Mogelijke bijkomende tekenen zijn onder meer gegeneraliseerde zwakte van skeletspieren, spieratrofie, sensorische axonale neuropathie, ataxie, cardiomyopathie, en psychiatrische symptomen. Het is meestal ernstiger dan de autosomaal dominante vorm."},"pt":{"name":"Oftalmoplegia externa progressiva autossómica recessiva","synonyms":["arPEO"]},"pl":{"name":"Autosomalna recesywna postępująca oftalmoplegia zewnętrzna","synonyms":["arPEO"]},"cs":{"name":"Autozomálně recesivní progresivní externí oftalmoplegie","synonyms":["arPEO"]},"uk":{"name":"Аутосомно-рецесивна прогресуюча зовнішня офтальмоплегія","synonyms":["arPEO"],"definition":"A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form."},"zh":{"name":"常染色体隐性遗传性进行性外眼肌麻痹","synonyms":["arPEO"],"definition":"一种罕见的遗传性神经眼科疾病，特征是眼外肌进行性无力，导致双侧上睑下垂和弥漫性、对称性眼瘫。其他体征可能包括全身骨骼肌无力、肌肉萎缩、感觉性轴索神经病、共济失调、心肌病和精神症状。它通常比常染色体显性遗传的类型更严重。"},"tr":{"name":"Otozomal resesif ilerleyici eksternal oftalmopleji","synonyms":["arPEO"]}},"xrefs":[{"source":"OMIM","code":"258450","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617069","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618098","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620647","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H49.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C82.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1440469708"},{"source":"MONDO","code":"0016810","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564926","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850303","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1191","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254807,"name":"Multiple mitochondrial DNA deletion syndrome","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":520820,"name":"Progressive external ophthalmoplegia","classifications":[156,189]}],"children":[],"genes":[{"symbol":"POLG","name":"DNA polymerase gamma, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11431686[PMID]_20301791[PMID]","hgnc":"9179","ensembl":"ENSG00000140521","omim":"174763","loci":["15q26.1"]},{"symbol":"RRM1","name":"ribonucleotide reductase catalytic subunit M1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35617047[PMID]","hgnc":"10451","ensembl":"ENSG00000167325","omim":"180410","loci":["11p15.4"]},{"symbol":"TK2","name":"thymidine kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21937588[PMID]","hgnc":"11831","ensembl":"ENSG00000166548","omim":"188250","loci":["16q21"]},{"symbol":"TOP3A","name":"DNA topoisomerase III alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29290614[PMID]_36544354[PMID]","hgnc":"11992","ensembl":"ENSG00000177302","omim":"601243","loci":["17p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-04","source":"8628476[PMID]_16634032[PMID]_20837861[PMID]_21670405[PMID]_21937588[PMID]","terms":[{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003688","label":"Cytochrome C oxidase-negative muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003737","label":"Mitochondrial myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000479","label":"Abnormal retinal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","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:0002396","label":"Cogwheel rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007641","label":"Dyschromatopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100653","label":"Optic neuritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002548","label":"Parkinsonism with favorable response to dopaminergic medication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025403","label":"Stooped posture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001621","label":"Weak voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Very rare (<4-1%)","criteria":null}]}}