{"entities":{"Q104865":{"pageid":95263,"ns":120,"title":"Item:Q104865","lastrevid":605066,"modified":"2026-08-17T10:43:35Z","type":"item","id":"Q104865","labels":{"mul":{"language":"mul","value":"ID_1394279590"},"pt-br":{"language":"pt-br","value":"Miastenia cong\u00eanita com defici\u00eancia cong\u00eanita de acetilcolinesterase da placa motora"},"en":{"language":"en","value":"Congenital myasthenia with congenital endplate acetylcholinesterase deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Defici\u00eancia de acetilcolinesterase (AChE) da placa motora autoss\u00f4mica recessiva, um subtipo de s\u00edndrome miast\u00eanica cong\u00eanita (SMC) causada por muta\u00e7\u00f5es do pept\u00eddeo da cauda colag\u00eania da acetilcolinesterase (ColQ) com in\u00edcio do nascimento at\u00e9 2 anos, apresenta-se com hipotonia e fraqueza muscular proximal e/ou com marcos motores atrasados. Fraqueza muscular extraocular e ptose est\u00e3o sempre presentes, sintomas bulbar em metade dos pacientes, crises respirat\u00f3rias em um ter\u00e7o. Reflexo pupilar \u00e0 luz ocasionalmente est\u00e1 lentificado. O curso varia de fraqueza grave e progressiva no neonato a sintomas menos graves durante a inf\u00e2ncia com progress\u00e3o m\u00ednima. Mais de 80% deambula durante seguimento e n\u00e3o apresenta problemas respirat\u00f3rios, \u00e0 despeito de poderem apresentar crises. Os pacientes respondem \u00e0 efedrina e salbutamol e n\u00e3o aos inibidores da AChE."},"en":{"language":"en","value":"Autosomal recessive endplate Acetylcholinesterase (AChE) deficiency, a Congenital myasthenic syndrome (CMS) subtype caused by Collagenic tail of endplate acetylcholinesterase (ColQ) mutations with onset from birth to 2 years, presents with hypotonia and proximal muscle weakness or delayed motor milestones. Extraocular muscle weakness and ptosis are always present, bulbar symptoms in half of the patients, respiratory crises in one-third. Occasionally delayed pupillary light reflex. The course varies from progressive severe weakness in the neonate to less severe symptoms during childhood with minimal progression. More than 80% is ambulant on follow-up and has no respiratory trouble despite crises. The patients respond to ephedrine and salbutamol, not to AChE inhibitors."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"c75f5ec7fec904135fca93a656d69f34d5eb6da4","datavalue":{"value":"https://id.who.int/icd/entity/1394279590","type":"string"},"datatype":"url"},"type":"statement","id":"Q104865$F249319D-D0F7-4C9E-81FF-D76BBF41928A","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"042b79cd8b9c03a8db8c7e57ad73d6fc896eea40","datavalue":{"value":"CID11:ID_1394279590","type":"string"},"datatype":"string"},"type":"statement","id":"Q104865$8887DDC2-EA0B-43D4-8114-70D338BF4AB5","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"765d11c263184e6ce68faf26884f37d41e5d9fc8","datavalue":{"value":"dki-india-ID_1394279590","type":"string"},"datatype":"string"},"type":"statement","id":"Q104865$1C7F3A38-2B9A-47A8-B20C-2506CFA5D216","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q104865$9D4953EA-5863-47D4-B77E-67426581077E","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q104865$1FE8AAC3-E8C3-4B0D-8B1F-8091988B7D53","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"8612011b2ca718e4ec0db5a49d2de6d25b2e811c","datavalue":{"value":{"time":"+2026-08-16T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q104865$50FEEC47-E5C9-4784-90E4-89FAF1200ABE","rank":"normal"}]},"sitelinks":{}}}}