{"orpha":2579,"name":"Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Furukawa-Takagi-Nakao syndrome"],"definition":"A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2579/","orphanet_url":"https://www.orpha.net/en/disease/detail/2579","names":{"fr":{"name":"Syndrome d'atrophie musculaire-ataxie-rétinite pigmentaire-diabète","synonyms":["Syndrome de Furukawa-Takagi-Nakao"],"definition":"Ataxie héréditaire rare caractérisée par une atrophie musculaire neurogène associée à des signes d'ataxie cérébelleuse, d'hypesthésie, de dégénérescence de la rétine et du diabète sucré. La maladie débute à l'adolescence avec une évolution lente. Aucun cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Muskelatrophie-Ataxie-Retinitis pigmentosa-Diabetes mellitus-Syndrom","synonyms":["Furukawa-Takagi-Nakao-Syndrom"],"definition":"Eine seltene hereditäre Ataxie, die durch neurogene Muskelatrophie in Verbindung mit Anzeichen von zerebellärer Ataxie, Hypästhesie, Degeneration der Netzhaut und Diabetes mellitus gekennzeichnet ist. Die Krankheit beginnt in der Adoleszenz, und der Verlauf ist langsam progressiv. Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de atrofia muscular-ataxia-retinosis pigmentaria-diabetes mellitus","definition":"Es una ataxia hereditaria poco frecuente caracterizada por atrofia muscular neurógena asociada a signos de ataxia cerebelosa, hipoestesia, degeneración retiniana y diabetes mellitus. La enfermedad debuta en la adolescencia y el curso es lentamente progresivo. No ha habido más descripciones en la literatura desde 1983."},"it":{"name":"Sindrome atrofia muscolare-atassia-retinite pigmentosa-diabete mellito","synonyms":["Sindrome di Furukawa-Takagi-Nakao"],"definition":"Si tratta di un'atassia ereditaria rara, caratterizzata da atrofia muscolare neurogena associata ai segni dell'atassia cerebellare, ad ipoestesia, alla degenerazione retinica e al diabete mellito. La malattia esordisce nell'adolescenza e progredisce lentamente. Non sono stati descritti nuovi casi dopo il 1983."},"nl":{"name":"Musculaire atrofie - ataxie - retinitis pigmentosa - diabetes mellitus","synonyms":["Musculaire atrofie - ataxie - retinitis pigmentosa - diabetes mellitus"],"definition":"Een zeldzame, hereditaire ataxie, gekarakteriseerd door neurogene spieratrofie, geassocieerd met tekenen van cerebellaire ataxie, hypesthesie, degeneratie van retina, en diabetes mellitus. De ziekte vangt aan in de adolescentie en verloopt traag progressief. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de atrofia muscular-ataxia-retinite pigmentosa-diabetes mellitus","synonyms":["Síndrome Furukawa-Takagi-Nakao"]},"pl":{"name":"Atrofia mięśni - ataksja - zwyrodnienie barwnikowe siatkówki - cukrzyca","synonyms":["Zespół Furukawa, Takagi i Nakao"]},"cs":{"name":"Syndrom zahrnující svalovou atrofii, ataxii, retinitis pigmentosa a diabetes mellitus","synonyms":["Furukawaův-Takagiův-Nakaové syndrom","Furukawa-Takagi-Nakaové syndrom"]},"uk":{"name":"Мязова атрофія-атаксія-пігментна дегенерація сітківки-цукровий діабет","synonyms":["Синдром Фурукава-Такагі-Накао"],"definition":"A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983."},"zh":{"name":"肌萎缩-共济失调-色素性视网膜炎-糖尿病综合征","synonyms":["Furukawa-Takagi-Nakao综合征"]},"tr":{"name":"Kas atrofisi-ataksi-retinitis pigmentosa-diabetes mellitus sendromu","synonyms":["Furukawa-Takagi-Nakao sendromu"]}},"xrefs":[{"source":"OMIM","code":"158500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008023","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538193","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931765","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2417","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"5748751[PMID]_6302225[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5748751[PMID]_6302225[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null}]}}