{"entities":{"Q92758":{"pageid":83151,"ns":120,"title":"Item:Q92758","lastrevid":517479,"modified":"2026-08-16T07:53:13Z","type":"item","id":"Q92758","labels":{"mul":{"language":"mul","value":"ID_1087841084"},"pt-br":{"language":"pt-br","value":"Miastenia infantil familiar"},"en":{"language":"en","value":"Familial infantile myasthenia"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A defici\u00eancia isolada de Prolyl s\u00edmile a endopeptidase (PREPL) causando s\u00edndromes miast\u00eanicas cong\u00eanitas com caracter\u00edsticas pr\u00e9 e p\u00f3s-sin\u00e1pticas e defici\u00eancia de horm\u00f4nio do crescimento foi relatada em um \u00fanico caso. As caracter\u00edsticas cl\u00ednicas incluem in\u00edcio ao nascimento, hipotonia, dificuldades de alimenta\u00e7\u00e3o. Ao exame, ptose palpebral, l\u00e1bio superior em tenda, fraqueza muscular proximal, vari\u00e1vel durante o dia, responsivo ao inibidor da colinesterase. Sem diminui\u00e7\u00e3o na estimula\u00e7\u00e3o nervosa repetitiva."},"en":{"language":"en","value":"Isolated Prolyl endopeptidase-like (PREPL) deficiency causing congenital myasthenic syndromes with pre- and postsynaptic features and growth hormone deficiency was reported in a singleton case. Clinical features include onset at birth, hypotonia, feeding difficulties. On examination eyelid ptosis, tented upper lip, proximal muscle weakness, variable during day, cholinesterase-inhibitor responsive. No decrement on repetitive nerve stimulation."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"7edd36a77fd5ffa0772c00e238f74965fe605c69","datavalue":{"value":"https://id.who.int/icd/entity/1087841084","type":"string"},"datatype":"url"},"type":"statement","id":"Q92758$F4F80A5B-4C4D-4542-96B0-F28A9459DCA6","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"71c42f8767224f04f199b8fcedddd7749c5d32d2","datavalue":{"value":"CID11:ID_1087841084","type":"string"},"datatype":"string"},"type":"statement","id":"Q92758$6E6C57EA-E06D-42DD-8716-4431F4320E3F","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"143afe669924b8a2a083894067f129cd14257ce4","datavalue":{"value":"dki-india-ID_1087841084","type":"string"},"datatype":"string"},"type":"statement","id":"Q92758$E3D02887-098C-4145-8A04-E38570F0F9DE","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q92758$19986053-2689-43B8-8EDE-9D81F2E790E0","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q92758$C642CD8B-D69C-49BD-9690-68D9A9F657A6","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q92758$32FE4CD2-E1EE-41DD-9A07-B257B5E471D1","rank":"normal"}]},"sitelinks":{}}}}