{"orpha":88644,"name":"Autosomal recessive ataxia, Beauce type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARCA1","Autosomal recessive cerebellar ataxia type 1","SCAR8"],"definition":"A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several <i<SYNE1</i> gene mutations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88644/","orphanet_url":"https://www.orpha.net/en/disease/detail/88644","names":{"fr":{"name":"Ataxie cérébelleuse autosomique récessive type Beauce","synonyms":["ARCA1","Ataxie cérébelleuse autosomique récessive type 1","SCAR8"],"definition":"Ataxie cérébelleuse autosomique récessive type Beauce se caractérise par une ataxie cérébelleuse pure évoluant lentement et associée à une dysarthrie. Il a été décrits chez 53 cas issus de 26 familles d'origine canadienne. Le mode de transmission est de type autosomique récessif. Différentes mutations du gène <i>SYNE1</i> ont été identifiées par clonage positionnel."},"de":{"name":"Ataxie, autosomal-rezessive, Typ Beauce","synonyms":["ARCA1","SCAR8","Zerebelläre Ataxie, autosomal-rezessive, Typ 1"],"definition":"Dieses Syndrom ist gekennzeichnet durch eine langsam progrediente reine Kleinhirn-Ataxie mit Dysarthrie."},"es":{"name":"Ataxia autosómica recesiva tipo Beauce","synonyms":["ARCA1","Ataxia cerebelosa autosómica recesiva tipo 1","SCAR8"],"definition":"Es un trastorno poco frecuente caracterizado por ataxia cerebelosa pura, lentamente progresiva, asociada con disartria. Se ha descrito en 53 individuos de 26 familias de origen canadiense. El modo de transmisión es autosómico recesivo. La clonación posicional ha llevado a la identificación de varias mutaciones genéticas."},"it":{"name":"Atassia autosomica recessiva, tipo Beauce","synonyms":["ARCA1","Atassia cerebellare autosomica recessiva, tipo 1","Atassia cerebellare, autosomica recessiva, tipo 1","SCAR8"]},"nl":{"name":"Autosomaal recessieve ataxie, Beauce-type","synonyms":["ARCA1","Autosomaal recessieve cerebellaire ataxie type 1","SCAR8"],"definition":"Een zeldzame aandoening, gekarakteriseerd door een traag progressieve, zuivere cerebellaire ataxie geassocieerd met dysartrie. Het werd beschreven bij 53 individuen uit 26 families van Canadese oorsprong. De overerving gebeurt autosomaal recessief. Positionele klonering heeft geleid tot de identificatie van verschillende genmutaties."},"pt":{"name":"Ataxia autossómica recessiva, tipo Beauce"},"pl":{"name":"Autosomalna recesywna ataksja typu Beauce'a","synonyms":["ARCA1","Autosomalna recesywna ataksja móżdżkowa typu 1","SCAR8"]},"cs":{"name":"Autozomálně recesivní ataxie, typ Beauce","synonyms":["ARCA1","SCAR8","Autozomálně recesivní cerebelární ataxie, typ 1"]},"uk":{"name":"Аутосомно-рецесивна атаксія, тип Бьюса","synonyms":["ARCA1","Аутосомно-рецесивна мозочкова атаксія типу 1","SCAR8"],"definition":"A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several <i<SYNE1</i> gene mutations."},"zh":{"name":"常染色体隐性遗传共济失调，Beauce型","synonyms":["常染色体隐性遗传性小脑性共济失调1型"]},"tr":{"name":"Otozomal resesif ataksi, Beauce tipi","synonyms":["ARCA1","SCAR8","Otozomal Çekinik serebellar ataksi tip 1"]}},"xrefs":[{"source":"OMIM","code":"610743","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012549","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C579934","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3683483","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12234","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1172,"name":"Autosomal recessive cerebellar ataxia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SYNE1","name":"spectrin repeat containing nuclear envelope protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17159980[PMID]","hgnc":"17089","ensembl":"ENSG00000131018","omim":"608441","loci":["6q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":57.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-08-31","source":"27086870[PMID]_20301553[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031960","label":"Arm dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007267","label":"Chronic axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025402","label":"Square-wave jerks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Very rare (<4-1%)","criteria":null}]}}