{"orpha":1217,"name":"Spinal atrophy-ophthalmoplegia-pyramidal syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Hamano-Tsukamoto syndrome"],"definition":"Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1217/","orphanet_url":"https://www.orpha.net/en/disease/detail/1217","names":{"fr":{"name":"Syndrome d'atrophie spinale-ophtalmoplégie-syndrome pyramidal","synonyms":["Syndrome de Hamano-Tsukamoto"],"definition":"Amyotrophie bulbospinale rare caractérisée par une hypotonie néonatale généralisée, une paralysie pontobulbaire et spinale progressive, des signes d'atteinte pyramidale et une surdité. L'ophtalmoplégie externe et la mydriase bilatérale sont des signes typiques. Aucun cas n'a été décrit dans la littérature depuis 1994."},"de":{"name":"Spinale Atrophie-Ophthalmoplegie-Pyramidenbahn-Symptomatik-Syndrom","synonyms":["Hamano-Tsukamoto-Syndrom"]},"es":{"name":"Atrofia espinal-oftalmoplejía-síndrome piramidal","synonyms":["Síndrome de Hamano-Tsukamoto"],"definition":"Es una atrofia muscular bulboespinal poco frecuente caracterizada por hipotonía neonatal generalizada, parálisis espinal y pontobulbar progresiva, signos piramidales y sordera. También son características la oftalmoplejía externa y midriasis bilateral. No ha habido más casos descritos en la literatura desde 1994."},"it":{"name":"Atrofia spinale associata a oftalmoplegia e sindrome piramidale","synonyms":["Sindrome di Hamano-Tsukamoto"],"definition":"L'associazione tra atrofia spinale, oftalmoplegia e sindrome piramidale è un'atrofia muscolare bulbospinale rara, caratterizzata da ipotonia neonatale generalizzata, paralisi pontobulbare e spinale progressiva, segni piramidali e sordità. Sono caratteristici l'oftalmoplegia esterna e la midriasi bilaterale. Non sono stati descritti nuovi casi dopo il 1994."},"nl":{"name":"Spinale atrofie - oftalmoplegie - piramidale symptomen-syndroom","synonyms":["Syndroom van Hamano-Tsukamoto"],"definition":"Spinale atrofie - oftalmoplegie - piramidaal syndroom is een zeldzame, bulbospinale musculaire atrofie die gekarakteriseerd wordt door gegeneraliseerde neonatale hypotonie, progressieve pontobulbaire en spinale verlamming, piramidale tekenen, en doofheid. Externe oftalmoplegie en bilaterale mydriasis zijn typische tekenen. Sinds 1994 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Atrofia espinhal-oftalmoplegia-síndrome piramidal","synonyms":["Síndrome Hamano-Tsukamoto"]},"pl":{"name":"Zespół piramidowy z zanikiem rdzenia i oftalmoplegią","synonyms":["Zespół Hamano i Tsukamoto"],"definition":"*Zespół piramidowy z zanikiem rdzenia i oftalmoplegią (niedowładem mięśni gałkoruchowych) jest rzadką postacią rdzeniowo-opuszkowego zaniku mięśni, który charakteryzuje się uogólnioną hipotonią noworodków, postępującym porażeniem rdzeniowym oraz mostowo-opuszkowym, objawami piramidowymi i niedosłuchem. Typowe objawy to zewnętrzna oftalmoplegia i obustronne rozszerzenie źrenic. W literaturze nie ma nowych opisów od 1994 roku."},"cs":{"name":"Spinální atrofie, oftalmoplegie a pyramidální syndrom","synonyms":["Hamanův-Tsukamotův syndrom","Hamano-Tsukamotův syndrom"]},"uk":{"name":"Спінальна атрофія-офтальмоплегія-пірамідний синдром","synonyms":["Синдром Хамано-Цукамото"],"definition":"Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994."},"zh":{"name":"脊髓性肌萎缩-眼肌麻痹-锥体束征综合征","synonyms":["Hamano-Tsukamoto 综合征"]},"tr":{"name":"Spinal atrofi-oftalmopleji-piramidal sendrom","synonyms":["Hamano-Tsukamoto sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015250","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535625","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930956","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4942","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206710,"name":"Generalized bulbospinal muscular atrophy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8068160[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8068160[PMID]"}],"phenotypes":null}