{"entities":{"Q85582":{"pageid":75967,"ns":120,"title":"Item:Q85582","lastrevid":465813,"modified":"2026-08-15T10:56:39Z","type":"item","id":"Q85582","labels":{"mul":{"language":"mul","value":"ID_1500390195"},"pt-br":{"language":"pt-br","value":"S\u00edndrome de Fazio-Londe"},"en":{"language":"en","value":"Fazio-Londe syndrome"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A s\u00edndrome de Fazio-Londe \u00e9 um transtorno heredit\u00e1rio caracterizado pelo in\u00edcio na inf\u00e2ncia de fraqueza bulbar, facial e respirat\u00f3ria com hiperreflexia dos membros. A s\u00edndrome de Fazio-Londe compartilha um fen\u00f3tipo cl\u00ednico semelhante \u00e0 s\u00edndrome de Brown-Vialetto-Van Leare, exceto por n\u00e3o haver perda auditiva. A s\u00edndrome de Fazio-Londe \u00e9 herdada de forma recessiva, resultado de muta\u00e7\u00f5es homozigotas ou heterozigotas compostas no gene SLC52A3. Os pacientes podem responder \u00e0 terapia com riboflavina._x000D_ NOVO: A paralisia bulbar progressiva da inf\u00e2ncia (s\u00edndrome de Fazio-Londe) \u00e9 caracterizada por paralisia facial bilateral progressiva com v\u00e1rias outras manifesta\u00e7\u00f5es: ptose, disfagia, epilepsia, dispneia e infec\u00e7\u00f5es respirat\u00f3rias frequentes. Pode se tornar generalizado, levando \u00e0 paralisia, amiotrofia e reflexos tendinosos anormalmente exacerbados. O curso \u00e9 grave em casos de insufici\u00eancia respirat\u00f3ria. \u00c9 causada por perda neuronal nos n\u00facleos motores dos nervos cranianos, ao n\u00edvel do bulbo espinal. A degenera\u00e7\u00e3o das c\u00e9lulas do corno anterior da medula espinal tamb\u00e9m foi relatada. O modo de transmiss\u00e3o \u00e9 autoss\u00f4mico recessivo."},"en":{"language":"en","value":"Fazio-Londe syndrome is an inherited disorder characterised by childhood onset of bulbar, facial and respiratory weakness with limb hyperreflexia. Fazio-Londe syndrome shares a similar clinical phenotype with Brown-Vialetto-Van Leare syndrome, except there is no hearing loss. Fazio-Londe syndrome is recessively inherited, a result of homozygous or compound heterozygous mutations in the SLC52A3 gene. Patients may respond to therapy with riboflavin.  NEW: Progressive bulbar paralysis of childhood (Fazio-Londe syndrome) is characterised by progressive bilateral facial paralysis with various other manifestations: ptosis, dysphagia, dysrhythmia, dyspnoea and frequent respiratory infections. It may become generalised, leading to paralysis, amyotrophy and abnormally sharp osteotendinous reflexes. The course is severe in cases of respiratory insufficiency. It is caused by neuronal loss in the motor nuclei of the cranial nerves, at the level of the spinal bulb. Degeneration of the anterior horn cells of the spinal cord has also been reported. The mode of transmission is autosomal recessive."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"63d4d42d761b8442b563018084b081588ba29559","datavalue":{"value":"https://id.who.int/icd/entity/1500390195","type":"string"},"datatype":"url"},"type":"statement","id":"Q85582$F6990F7E-EC7F-4E52-91C4-3FE05C3A0D49","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"9ce3826ddcdf3538a22da1a760d6e271b7a54568","datavalue":{"value":"CID11:ID_1500390195","type":"string"},"datatype":"string"},"type":"statement","id":"Q85582$F3C57246-B2B1-48D3-A3E9-B0ECA2D82545","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"38df397b9d97e2e484c022740b9410baa626d404","datavalue":{"value":"dki-india-ID_1500390195","type":"string"},"datatype":"string"},"type":"statement","id":"Q85582$909DCA29-3004-4502-83B7-AB8E361BDE7D","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q85582$337527B8-73B1-4482-9253-377F34D2BC00","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":"Q85582$7573C183-2CC5-4D01-B501-FAD6F2DBE464","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q85582$6AA7BF13-1BC4-41AD-87C9-8C4D2D0FF31C","rank":"normal"}]},"sitelinks":{}}}}