{"orpha":423296,"name":"Spinocerebellar ataxia type 38","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCA38"],"definition":"Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-423296/","orphanet_url":"https://www.orpha.net/en/disease/detail/423296","names":{"fr":{"name":"Ataxie spinocérébelleuse type 38","synonyms":["SCA38"],"definition":"L'ataxie spinocérébelleuse type 38 (SCA38) est un sous-type d'ataxie cérébelleuse autosomique dominante de type 3. Elle se caractérise par une ataxie du tronc survenant chez l'adulte (âgé de 40 ans en moyenne), un trouble de la marche et un nystagmus évoqué par le regard. La maladie est lentement progressive, suivie d'une dysarthrie et d'une ataxie des membres. Les signes additionnels incluent une diplopie et une neuropathie axonale."},"de":{"name":"Ataxie, spinozerebelläre, Typ 38","synonyms":["SCA38"],"definition":"Die spinozerebelläre Ataxie Typ 38 (SCA38) ist ein Subtyp der autosomal-dominanten zerebellären Ataxie Typ 3, die im Erwachsenenalter (Durchschnittsalter: 40 Jahre) mit Stammataxie, Gangstörung und blickevoziertem Nystagmus auftritt. Die Erkrankung ist langsam progredient, wobei Dysarthrie und Gliedmaßenataxie folgen. Weitere Manifestationen sind Diplopie und axonale Neuropathie."},"es":{"name":"Ataxia espinocerebelosa tipo 38","synonyms":["SCA38"],"definition":"La ataxia espinocerebelosa tipo 38 (SCA38) es un subtipo de ataxia cerebelosa autosómica dominante tipo 3 caracterizado por la aparición en adultos (edad media: 40 años) de ataxia truncal, trastorno de la marcha y nistagmo evocado por la mirada. La enfermedad es lentamente progresiva, y continúa con disartria y ataxia de las extremidades. Otras manifestaciones incluyen la diplopía y la neuropatía axonal."},"it":{"name":"Atassia spinocerebellare, tipo 38","synonyms":["SCA38"],"definition":"L'atassia spinocerebellare tipo 38 (SCA38) è un sottotipo di atassia cerebellare autosomica dominate tipo 3; è caratterizzata da atassia del tronco, anomalie della deambulazione e nistagmo evocato dallo sguardo, che esordisce nell'età adulta (età media: 40 anni). La malattia progredisce lentamente; successivamente insorgono disartria e atassia agli arti. Altri segni caratteristici sono la diplopia e la neuropatia assonale."},"nl":{"name":"Spinocerebellaire ataxie type 38","synonyms":["SCA38"],"definition":"Spinocerebellaire ataxie type 38 (SCA38) is een subtype van autosomaal dominante cerebellaire ataxie type 3 dat gekarakteriseerd wordt door aanvang in de volwassenheid (gemiddelde leeftijd: 40 jaar) van truncale ataxie, gangstoornis en blikrichtingsnystagmus. De ziekte is traag progressief met dysartrie en ataxie van de ledematen die volgen. Bijkomende manifestaties zijn onder meer diplopie en axonale neuropathie."},"pt":{"name":"Ataxia espinocerebelosa tipo 38","synonyms":["SCA38"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa typu 38","synonyms":["SCA38"]},"cs":{"name":"Spinocerebelární ataxie, typ 38","synonyms":["SCA38"]},"uk":{"name":"Спіноцеребеллярна атаксія, тип 38","synonyms":["SCA38"],"definition":"Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy."},"zh":{"name":"脊髓小脑共济失调38型","synonyms":["SCA38"],"definition":"脊髓小脑性共济失调38型（SCA38）是常染色体显性小脑性共济失调3型的一种亚型，其特征是成人发作（平均年龄：40岁）。临床表现包括截断性共济失调，步态障碍和凝视诱发的眼球震颤。该疾病缓慢发展，并伴有构音障碍和四肢共济失调。其他表现包括复视和轴突神经病。"},"tr":{"name":"Spinoserebellar ataksi tip 38","synonyms":["SCA38"]}},"xrefs":[{"source":"OMIM","code":"615957","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.16","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"14417","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518337","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":94148,"name":"Autosomal dominant cerebellar ataxia type III","classifications":[156,181]},{"orpha":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ELOVL5","name":"ELOVL fatty acid elongase 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25065913[PMID]","hgnc":"21308","ensembl":"ENSG00000012660","omim":"611805","loci":["6p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"25065913[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25065913[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-27","source":"25065913[PMID]","terms":[{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very rare (<4-1%)","criteria":null}]}}