{"orpha":98,"name":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARSACS","Autosomal recessive spastic ataxia type 6","SPAX6"],"definition":"A rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, a pyramidal syndrome and peripheral neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98/","orphanet_url":"https://www.orpha.net/en/disease/detail/98","names":{"fr":{"name":"Ataxie spastique autosomique récessive de Charlevoix-Saguenay","synonyms":["ARSACS","Ataxie spastique autosomique récessive type 6","Ataxie spastique type 6","SPAX6"],"definition":"Maladie neurodégénérative rare caractérisée par une ataxie cérébelleuse à début précoce, un syndrome pyramidal et une neuropathie périphérique."},"de":{"name":"Ataxie, spastische, autosomal-rezessive, Typ Charlevoix-Saguenay","synonyms":["ARSACS","Ataxie, spastische, autosomal-rezessive, Typ 6","SPAX6"],"definition":"Eine seltene neurodegenerative Erkrankung, die durch eine früh einsetzende zerebelläre Ataxie, ein Pyramidensyndrom und periphere Neuropathie gekennzeichnet ist."},"es":{"name":"Ataxia espástica autosómica recesiva de Charlevoix-Saguenay","synonyms":["ARSACS","Ataxia espástica autosómica recesiva tipo 6","SPAX6"],"definition":"Es un trastorno neurodegenerativo poco frecuente caracterizado por ataxia cerebelosa, un síndrome piramidal y neuropatía periférica de aparición precoz."},"it":{"name":"Atassia spastica autosomica recessiva di Charlevoix-Saguenay","synonyms":["ARSACS"]},"nl":{"name":"Autosomaal recessieve spastische ataxie van Charlevoix-Saguenay","synonyms":["ARSACS","Autosomaal recessieve spastische ataxie type 6","SPAX6"],"definition":"Een zeldzame neurodegeneratieve aandoening, gekenmerkt door vroeg optredende cerebellaire ataxie, een piramidaal syndroom en perifere neuropathie."},"pt":{"name":"Ataxia espástica autossómica recessiva de Charlevoix-Saguenay","definition":"Doença neurodegenerativa rara caracterizada por ataxia cerebelar de início precoce, síndrome piramidal e neuropatia periférica."},"pl":{"name":"Autosomalna recesywna ataksja spastyczna Charlevoix i Saguenay","synonyms":["SPAX6","ARSACS","Autosomalna recesywna ataksja spastyczna typu 6"]},"cs":{"name":"Autozomálně recesivní spastická ataxie, typ Charlevoix-Saguenay","synonyms":["ARSACS"]},"uk":{"name":"Аутосомно-рецесивна спастична атаксія Шарлевуа-Сагене","synonyms":["ARSACS","Аутосомно-рецесивна спастична атаксія типу 6","SPAX6"],"definition":"A rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, a pyramidal syndrome and peripheral neuropathy."},"zh":{"name":"Charlevoix-Saguenay常染色体隐性痉挛性共济失调","synonyms":["常染色体隐性痉挛性共济失调6型"]},"tr":{"name":"Charlevoix-Saguenay'ın otozomal resesif spastik ataksisi","synonyms":["SPAX6","ARSACS","Otozomal Çekinik spastik ataksi tip 6"]}},"xrefs":[{"source":"OMIM","code":"270550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"345074673"},{"source":"MONDO","code":"0010041","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536787","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849140","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4910","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2823,"name":"OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":316240,"name":"Autosomal recessive spastic ataxia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SACS","name":"sacsin molecular chaperone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301432[PMID]","hgnc":"10519","ensembl":"ENSG00000151835","omim":"604490","loci":["13q12.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301432[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":51.76,"area":"Specific population","status":"Validated","source":"8472930[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-22","source":"23497566[PMID]","terms":[{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012896","label":"Abnormal motor evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011931","label":"Abnormality of the cerebellar peduncle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007361","label":"Abnormality of the pons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007979","label":"Gaze-evoked horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007922","label":"Hypermyelinated retinal nerve fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012104","label":"Parietal cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010830","label":"Impaired tactile sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Very rare (<4-1%)","criteria":null}]}}