{"orpha":166105,"name":"FASTKD2-related infantile mitochondrial encephalomyopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166105/","orphanet_url":"https://www.orpha.net/en/disease/detail/166105","names":{"fr":{"name":"Encéphalomyopathie mitochondriale infantile associée à FASTKD2","definition":"Anomalie rare, d'origine génétique, de la phosphorylation oxydative mitochondriale caractérisée par une encéphalomyopathie à début infantile se manifestant par un retard de développement, une hémiplégie lentement progressive, des crises épileptiques réfractaires et une atrophie cérébrale asymétrique avec dilatation du système ventriculaire ipsilatéral. Les autres manifestations comprennent atrophie optique, légère augmentation du taux de lactate dans le liquide cérébrospinal et/ou dans le plasma, ainsi qu'une activité réduite du cytochrome c oxydase observée à la biopsie du muscle squelettique."},"de":{"name":"Enzephalomyopathie, mitochondriale, Typ Ghezzi-Zeviani"},"es":{"name":"Encefalomiopatía mitocondrial del lactante asociada a FASTKD2","definition":"La encefalomiopatía mitocondrial infantil asociada a FASTKD2, es un trastorno genético y poco frecuente de la fosforilación oxidativa mitocondrial caracterizado por encefalomiopatía de inicio en la lactancia que se presenta con retraso del desarrollo, hemiplejía de progresión lenta, crisis epilépticas intratables y atrofia cerebral asimétrica con dilatación del sistema ventricular ipsilateral. Otras características adicionales incluyen atrofia óptica, leve incremento de los niveles de lactato en plasma y/o en LCR, y disminución de la actividad citocromo c oxidasa en la biopsia de músculo esquelético."},"it":{"name":"Encefalopatia mitocondriale infantile correlata a FASTKD2","definition":"L'encefalopatia mitocondriale infantile correlata a FASTKD2 è una malattia genetica rara della fosforilazione ossidativa mitocondriale, caratterizzata da encefalomiopatia ad esordio infantile, che esordisce con ritardo dello sviluppo, emiplegia a progressione lenta, crisi epilettiche non trattabili ed atrofia cerebrale asimmetrica con dilatazione del sistema ventricolare sul lato colpito. Altri segni clinici sono l'atrofia ottica e un lieve aumento dei livelli del lattato nel plasma e/o nel liquido cerebrospinale; la biopsia dei muscoli scheletrici evidenzia una diminuzione dell'attività della citocromo c ossidasi."},"nl":{"name":"FASTKD2-gerelateerde infantiele mitochondriale encefalomyopathie","definition":"FASTKD2-gerelateerde infantiele mitochondriale encefalomyopathie is een zeldzame, genetische mitochondriale oxidatieve fosforylatiestoornis die wordt gekarakteriseerd door infantiele aanvang van encefalomyopathie en die zich manifesteert met ontwikkelingsachterstand, traag progressieve hemiplegie, onbehandelbare epileptische aanvallen en asymmetrische atrofie van de hersenen met dilatatie van het ipsilaterale ventrikelsysteem. Bijkomende kenmerken zijn onder meer opticusatrofie, milde toename van lactaat in het plasma en/of CSV, en verminderde activiteit van cytochroom-c-oxidase in biopten van skeletspieren."},"pt":{"name":"Encefalomiopatia mitocondrial da infância FASTKD2-relacionada"},"pl":{"name":"Niemowlęca encefalopatia mitochondrialna związana z FASTKD2","definition":"*Niemowlęca encefalomiopatia mitochondrialna związana z FASTKD2 jest rzadkim, genetycznie uwarunkowanym mitochondrialnym zaburzeniem fosforylacji oksydacyjnej, które charakteryzuje się wczesną encefalomiopatią, powodującą opóźnienie rozwoju, powoli postępującą hemiplegię, oporne na leczenie napady padaczkowe i asymetryczny zanik mózgu z poszerzeniem układu komorowego po tej samej stronie. Dodatkowo może wystąpić zanik nerwu wzrokowego, nieznaczny wzrost stężenia kwasu mlekowego w surowicy i/lub płynie mózgowo-rdzeniowym oraz zmniejszona aktywność oksydazy cytochromu c w materiale z biopsji mięśnia szkieletowego."},"cs":{"name":"FASTKD2-vázaná infantilní mitochondriální encefalomyopatie"},"uk":{"name":"Дитяча мітохондріальна енцефаломіопатія, повязана з FASTKD2","definition":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy."},"zh":{"name":"FASTKD2相关的婴儿线粒体脑肌病","definition":"FASTKD2基因相关的儿线粒体脑肌病是一种罕见的遗传性线粒体氧化磷酸化疾病，其特征是婴儿起病的脑肌病，表现为发育迟缓、缓慢进行性偏瘫、顽固性癫痫发作和伴同侧脑室系统扩张的不对称性脑萎缩。其他特征包括视神经萎缩、血浆和/或脑脊液乳酸轻度升高和骨骼肌活检中细胞色素C氧化酶活性降低。"},"tr":{"name":"FASTKD2 -ilişkili infantil mitokondriyal ensefalomiyopati"}},"xrefs":[{"source":"OMIM","code":"618855","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"356231901"},{"source":"MONDO","code":"0015632","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755278","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":254822,"name":"Mitochondrial oxidative phosphorylation disorder with no known mechanism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FASTKD2","name":"FAST kinase domains 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18771761[PMID]","hgnc":"29160","ensembl":"ENSG00000118246","omim":"612322","loci":["2q33.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"18771761[PMID]_28499982[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18771761[PMID]_28499982[PMID]"}],"phenotypes":null}