{"orpha":363677,"name":"Childhood-onset autosomal recessive myopathy with external ophthalmoplegia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363677/","orphanet_url":"https://www.orpha.net/en/disease/detail/363677","names":{"fr":{"name":"Myopathie autosomique récessive avec ophtalmoplégie externe de l'enfant","definition":"Myopathie non dystrophique rare, d'origine génétique, caractérisée par une ophtalmoplégie externe sévère apparaissant dans l'enfance, généralement en l'absence de ptosis, associée à une faiblesse et une atrophie musculaires légères et très lentement progressives, affectant les muscles faciaux, les muscles fléchisseurs du cou et les muscles des membres (supérieurs > inférieurs, proximaux > distaux). La biopsie musculaire est caractérisée par des fibres de type 1 uniformes et des fibres de type 2A de taille anormalement petite, voire absentes, la taille des fibres étant très variable et leurs noyaux internalisés, et/ou par une infiltration graisseuse."},"de":{"name":"Im Kindesalter beginnende autosomal-rezessive Myopathie mit externer Ophtalmoplegie","definition":"Eine seltene, genetisch bedingte, nicht dystrophe Myopathie, die durch eine im Kindesalter auftretende schwere externe Ophthalmoplegie gekennzeichnet ist, typischerweise ohne Ptosis, verbunden mit einer leichten, sehr langsam fortschreitenden Muskelschwäche und -atrophie, die die Gesichts-, Nackenbeuger- und Gliedmaßenmuskeln (obere > untere, proximale > distale) betrifft. Die Muskelbiopsie zeigt einheitliche Fasern vom Typ 1, fehlende oder abnorm kleine Fasern vom Typ 2A, eine erhöhte Variabilität der Fasergröße, internalisierte Kerne und/oder Fettinfiltration."},"es":{"name":"Miopatía autosómica recesiva de inicio en la infancia con oftalmoplejía externa","definition":"Es una miopatía no distrófica de origen genético y poco frecuente caracterizada por grave oftalmoplejía externa de inicio en la infancia, típicamente sin ptosis, asociada a atrofia y debilidad muscular leve y de progresión muy lenta, que afecta a los músculos faciales, flexores del cuello y de las extremidades (superiores> inferiores; proximal> distal). La biopsia muscular revela uniformidad de fibras tipo 1, fibras de tipo 2A ausentes o anormalmente pequeñas, mayor variación en el tamaño de la fibra, núcleos internalizados y/o infiltración grasa."},"it":{"name":"Miopatia autosomica recessiva ad esordio infantile con oftalmoplegia esterna","definition":"È una miopatia non distrofica genetica rara, caratterizzata da oftalmoplegia esterna grave ad esordio infantile, di solito senza ptosi, associata a debolezza ed atrofia muscolare lieve e a progressione molto lenta, che interessa i muscoli facciali, flessori del collo e degli arti (con prevalente interessamento degli arti superiori e della porzione prossimale). La biopsia muscolare evidenzia uniformità delle fibre di tipo 1, assenza o ridotte dimensioni delle fibre di tipo 2A, marcata variabilità delle dimensioni delle fibre, internalizzazione dei nuclei e/o infiltrazione di grasso."},"nl":{"name":"Autosomaal recessieve myopathie met externe oftalmoplegie met aanvang tijdens de kindertijd","definition":"Een zeldzame, genetische, niet-dystrofische myopathie gekarakteriseerd door aanvang in de kindertijd van ernstige externe oftalmoplegie, doorgaans zonder ptose, geassocieerd met milde, zeer traag progressieve spierzwakte en -atrofie van gelaatsspieren, buigspieren van de nek en spieren van de ledematen (bovenste > onderste, proximaal > distaal). Analyse van spierbiopten toont uniforme type 1 spiervezels, afwezige of abnormaal kleine type 2A spiervezels, verhoogde variabiliteit van de omvang van de vezels, geïnternaliseerde kernen en/of vetinfiltratie."},"pt":{"name":"Miopatia com oftalmoplegia externa autossómica recessiva com início na infância"},"pl":{"name":"Autosomalna recesywna miopatia z oftalmoplegią zewnętrzną o początku w wieku dziecięcym"},"cs":{"name":"Autozomálně recesivní myopatie s externí oftalmoplegií s nástupem v dětství"},"uk":{"name":"Аутосомно-рецесивна міопатія із зовнішньою офтальмоплегією, що починається в дитячому віці","definition":"A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration."},"zh":{"name":"儿童起病常染色体隐性肌病伴外眼肌麻痹","definition":"本病是一种罕见的遗传性非营养不良肌病，以儿童时期起病的严重眼外肌麻痹为特征，通常没有上睑下垂，伴有轻度、非常缓慢的进行性肌无力及萎缩，累及面部、颈部屈肌和四肢(上肢重于下肢、近端重于远端)肌肉。肌肉活检显示1型纤维均一，2A型纤维缺乏或异常减小，肌纤维大小变异度增加以及细胞核内移和/或脂肪浸润。"},"tr":{"name":"Eksternal oftalmopleji ile seyreden çocuklukta başlayan otozomal resesif miyopati"}},"xrefs":[{"source":"OMIM","code":"605637","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018206","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5192594","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206662,"name":"Inclusion myopathy","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]}],"children":[],"genes":[{"symbol":"MYH2","name":"myosin heavy chain 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23388406[PMID]","hgnc":"7572","ensembl":"ENSG00000125414","omim":"160740","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"15548556[PMID]_23388406[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}