{"orpha":2572,"name":"Spastic ataxia-corneal dystrophy syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Bedouin spastic ataxia syndrome","Mousa-Al Din-Al Nassar syndrome","Spastic ataxia-ocular anomalies syndrome"],"definition":"A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2572/","orphanet_url":"https://www.orpha.net/en/disease/detail/2572","names":{"fr":{"name":"Syndrome d'ataxie spinocérébelleuse-dystrophie cornéenne","synonyms":["Syndrome d'ataxie spinocérébelleuse bédouine","Syndrome d'ataxie spinocérébelleuse-anomalies oculaires","Syndrome de Mousa-Al Din-Al Nassar"],"definition":"Ataxie héréditaire rare caractérisée par la présence d'une ataxie spastique en association avec une cataracte congénitale bilatérale, une dystrophie cornéenne maculaire (stromal avec dépôt de matière mucoïde) et une myopie non axiale. Les patients présentent un développement intellectuel normal. Il n'y a pas eu d'autres descriptions de cas dans la littérature depuis 1986."},"de":{"name":"Spastische Ataxie-Hornhautdystrophie-Syndrom","synonyms":["Mousa-Al Din-Al Nassar-Syndrom","Spastische Ataxie mit Augenanomalien","Spastische Ataxie vom Beduinen Typ"],"definition":"Eine seltene hereditäre Form der Ataxie, die durch spastische Ataxie in Verbindung mit beidseitiger angeborener Katarakt, makulärer Hornhautdystrophie (stromal mit Ablagerung von schleimigem Material) und nicht-axialer Myopie gekennzeichnet ist. Die Patienten weisen eine normale geistige Entwicklung auf. Seit 1986 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de ataxia espástica-distrofia corneal","synonyms":["Síndrome de Mousa Al Din Al Nassar","Síndrome de ataxia espástica beduina"],"definition":"El síndrome de ataxia espástica - distrofia corneal es un trastorno de ataxia hereditaria poco frecuente caracterizada por la presencia de ataxia espástica en asociación con cataratas congénitas bilaterales, distrofia macular corneal (estromal con acúmulo de material mucoide) y miopía no axial. Los afectados presentan un desarrollo intelectual normal. Desde 1986 no se han descrito más casos en la literatura."},"it":{"name":"Sindrome da atassia spastica e distrofia della cornea","synonyms":["Atassia spastica - anomalie oculari","Sindrome da atassia spastica, tipo beduino","Sindrome di Mousa-Al Din-Al Nassar"],"definition":"La sindrome che associa l'atassia spastica e la distrofia della cornea è un'atassia ereditaria rara, caratterizzata da atassia spastica associata a cataratta congenita bilaterale, distrofia corneale maculare (con depositi di materiale mucoso nello stroma) e miopia non-assiale. Lo sviluppo intellettivo è normale. Non sono stati descritti nuovi casi dopo il 1986."},"nl":{"name":"Spastische ataxie - corneadystrofie-syndroom","synonyms":["Bedoeïnen spastische ataxiesyndroom","Spastische ataxie - oculaire anomalieën-syndroom","Syndroom van Mousa-Al Din-Al Nassar"],"definition":"Spastische ataxie - corneadystrofie-syndroom is een zeldzame, erfelijke ataxie die gekarakteriseerd wordt door de aanwezigheid van spastische ataxie geassocieerd met bilateraal congenitaal cataract, maculaire corneadystrofie (stromaal met afzetting van mucoïd materiaal) en niet-axiale myopie. Patiënten vertonen een normale intellectuele ontwikkeling. Sinds 1986 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ataxia espástica-distrofia da córnea","synonyms":["Síndrome de ataxia espástica-anomalias oculares"]},"pl":{"name":"Ataksja spastyczna - dystrofia rogówki","synonyms":["Ataksja spastyczna - nieprawidłowości oczu","Zespół Mousa, Al Din i Al Nassar","Zespół spastycznej ataksji Beduinów"]},"cs":{"name":"Syndrom zahrnující spastickou ataxii a korneální dystrofii","synonyms":["Syndrom zahrnující spastickou ataxii a okulární anomálie","Syndrom spastické ataxie beduínů","Mousův-Al Dinův-Al Nassarův syndrom","Mousa-Al Din-Al Nassarův syndrom"]},"uk":{"name":"Синдром спастичної атаксії та дистрофії рогівки","synonyms":["Синдром бедуїнської спастичної атаксії","Синдром Муси аль-Дін аль-Нассара","Синдром спастичної атаксії та очних аномалій"],"definition":"A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986."},"zh":{"name":"痉挛性共济失调-角膜营养不良综合征","synonyms":["痉挛性共济失调-眼异常综合征"]},"tr":{"name":"Spastik ataksi-korneal distrofi sendromu","synonyms":["Bedouin spastik ataksi sendromu","Mousa-Al Din-Al Nassar sendromu","Spastik ataksi-oküler anomaliler sendromu"]}},"xrefs":[{"source":"OMIM","code":"271320","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1797656565"},{"source":"MONDO","code":"0010064","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536989","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849085","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3795","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":316240,"name":"Autosomal recessive spastic ataxia","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"3465874[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3465874[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002497","label":"Spastic ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002503","label":"Spinocerebellar tract degeneration","frequency":"Frequent (79-30%)","criteria":null}]}}