{"orpha":397750,"name":"Periodic paralysis with later-onset distal motor neuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397750/","orphanet_url":"https://www.orpha.net/en/disease/detail/397750","names":{"fr":{"name":"Paralysie périodique avec neuropathie motrice distale tardive","definition":"Maladie neuromusculaire génétique rare caractérisée par une faiblesse musculaire aiguë épisodique dans les extrémités supérieures et inférieures (répondant à un traitement par acétazolamide), associée à une neuropathie axonale, distale, lentement progressive, chronique, à début plus tardif."},"de":{"name":"Periodische Paralyse mit später einsetzender distaler motorischer Neuropathie"},"es":{"name":"Parálisis periódica con neuropatía motora distal de inicio tardío","definition":"La parálisis periódica con neuropatía motora distal de inicio tardío, es una enfermedad neuromuscular, genética y poco frecuente, caracterizada por debilidad muscular episódica aguda en las extremidades superiores e inferiores (que responde al tratamiento con acetazolamida) asociada a neuropatía axonal, distal, de inicio tardío, crónica y lentamente progresiva."},"it":{"name":"Paralisi periodica con neuropatia motoria distale a esordio tardivo","definition":"La paralisi periodica associata a neuropatia motoria distale ad esordio tardivo è una malattia neuromuscolare genetica rara, caratterizzata da episodi di debolezza muscolare acuta agli arti superiori e inferiori (che risponde al trattamento con acetazolamide), associati a neuropatia assonale distale cronica ad esordio tardivo e progressione lenta."},"nl":{"name":"Periodieke paralyse met later optredende distale motorische neuropathie","definition":"Periodieke verlamming met later aanvangende distale motorneuropathie is een zeldzame, genetische, neuromusculaire ziekte die gekarakteriseerd wordt door acute episodische spierzwakte in de bovenste en onderste ledematen (die reageert op behandeling met acetazolamide), geassocieerd met later aanvangende, chronische, traag progressieve, distale, axonale neuropathie."},"pt":{"name":"Paralisia periódica com neuropatia motora distal com início tardio"},"pl":{"name":"Porażenie okresowe z dystalną neuropatią ruchową o późnym początku"},"cs":{"name":"Periodická paralýza s distální motorickou neuropatií s pozdním nástupem"},"uk":{"name":"Періодичний параліч з пізньою дистальною моторною нейропатією","definition":"Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy."},"zh":{"name":"周期性麻痹伴迟发性远端运动神经病","definition":"周期性麻痹伴迟发性远端运动神经病是一种罕见的遗传性神经肌肉疾病，其特征是急性发作性上肢和下肢肌无力(对乙酰唑胺治疗有效)，并伴有迟发性慢性缓慢进展的远端轴索神经病。"},"tr":{"name":"Geç-başlangıçlı distal motor nöropati ile seyreden periyodik paraliz"}},"xrefs":[{"source":"OMIM","code":"500010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G72.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C74.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018343","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751573","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371433,"name":"Genetic periodic paralysis","classifications":[156]},{"orpha":254776,"name":"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":206976,"name":"Periodic paralysis","classifications":[181]}],"children":[],"genes":[{"symbol":"MT-ATP6","name":"mitochondrially encoded ATP synthase membrane subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24153443[PMID]","hgnc":"7414","ensembl":"ENSG00000198899","omim":"516060","loci":["mitochondria"]},{"symbol":"MT-ATP8","name":"mitochondrially encoded ATP synthase membrane subunit 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24153443[PMID]","hgnc":"7415","ensembl":"ENSG00000228253","omim":"516070","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"24153443[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24153443[PMID]"}],"phenotypes":null}