{"orpha":459033,"name":"Ataxia-oculomotor apraxia type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AOA4"],"definition":"A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-459033/","orphanet_url":"https://www.orpha.net/en/disease/detail/459033","names":{"fr":{"name":"Syndrome d'ataxie-apraxie oculo-motrice type 4","synonyms":["AOA4"],"definition":"Ataxie cérébelleuse autosomique récessive rare caractérisée par l'apparition d'une dystonie et d'autres signes d'une atteinte extrapyramidale, d'une ataxie, d'une apraxie oculomotrice et d'une polyneuropathie sensorimotrice progressive dans la première décennie de la vie. Les patients manifestent une faiblesse et une atrophie des muscles distaux, une diminution de la perception vibratoire et une aréflexie, et sont généralement confinés au fauteuil roulant vers la troisième décennie de leur vie. Des troubles cognitifs variables peuvent également être observés."},"de":{"name":"Ataxie mit okulomotorischer Apraxie Typ 4","synonyms":["AOA4"],"definition":"Eine autosomal-rezessive zerebelläre Ataxie, die durch das Auftreten von Dystonie und anderen extrapyramidalen Symptomen, Ataxie, okulomotorischer Apraxie und progressiver sensomotorischer Polyneuropathie im ersten Lebensjahrzehnt gekennzeichnet ist. Die Patienten weisen eine distale Muskelschwäche und -atrophie, ein vermindertes Vibrationsempfinden und Areflexie auf und sind in der Regel bis zum dritten Lebensjahrzehnt auf den Rollstuhl angewiesen. Auch eine variable kognitive Beeinträchtigung kann beobachtet werden."},"es":{"name":"Ataxia-apraxia oculomotora tipo 4","synonyms":["AOA4"],"definition":"Es una ataxia cerebelosa autosómica recesiva poco frecuente caracterizada por el inicio en la primera década de la vida de distonía y otros signos extrapiramidales, ataxia, apraxia oculomotora y polineuropatía sensitivo-motora progresiva. Los pacientes se presentan con debilidad y atrofia muscular distal, disminución de la sensibilidad vibratoria y arreflexia y, por lo general, requieren silla de ruedas en la tercera década de la vida. También se puede observar un deterioro cognitivo variable."},"it":{"name":"Atassia-aprassia oculomotoria tipo 4","definition":"Si tratta di un'atassia cerebellare autosomica recessiva rara, caratterizzata da distonia e altri segni extrapiramidali, atassia, aprassia oculomotoria e polineuropatia sensitivo-motoria progressiva ad esordio nella prima decade. I pazienti presentano debolezza e atrofia dei muscoli distali, riduzione del senso della vibrazione ed areflessia, e in genere sono costretti alla sedia a rotelle prima della terza decade di vita. Può associarsi a deficit cognitivo di gravità variabile."},"nl":{"name":"Ataxie - oculomotorische apraxie type 4","synonyms":["AOA4"],"definition":"Een zeldzame autosomaal recessieve cerebellaire ataxie, gekarakteriseerd door aanvang in het eerste levensdecennium van dystonie en andere extrapiramidale tekenen, ataxie, oculomotorische apraxie, en progressieve sensorimotorische polyneuropathie. Patiënten vertonen zwakte en atrofie van distale spieren, verminderde vibratiezin, en areflexie, en worden meestal tegen het derde levensdecennium afhankelijk van een rolstoel. Variabele cognitieve functiestoornis kan ook waargenomen worden."},"pt":{"name":"Ataxia-oculomotora apraxia tipo 4"},"pl":{"name":"Ataksja-apraksja okulomotoryczna typu 4","synonyms":["AOA4"]},"cs":{"name":"Ataxie a okulomotorická apraxie, typ 4","synonyms":["AOA4"]},"uk":{"name":"Атаксія-окуломоторна апраксія, тип 4","synonyms":["AOA4"],"definition":"A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen."},"zh":{"name":"共济失调动眼性失用4型","synonyms":["AOA4"],"definition":"一种罕见的常染色体隐性小脑共济失调，其特点是在10岁内出现肌张力和其他锥体外系症状、共济失调、眼球运动性失语和进行性感觉运动性多神经病。患者出现远端肌肉无力和萎缩、振动感觉减退和反射消失，通常到三十岁就会坐轮椅。也可出现不同程度的认知障碍。"},"tr":{"name":"Ataksi-okülomotor apraksi tip 4","synonyms":["AOA4"]}},"xrefs":[{"source":"OMIM","code":"616267","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014557","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225397","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13111","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98099,"name":"Autosomal recessive syndromic cerebellar ataxia","classifications":[156,181]},{"orpha":98497,"name":"Genetic peripheral neuropathy","classifications":[156,181]},{"orpha":98688,"name":"Oculomotor apraxia","classifications":[156,189]},{"orpha":370106,"name":"Rare disorder with dystonia and other neurologic or systemic manifestation","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PNKP","name":"polynucleotide kinase 3'-phosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25728773[PMID]","hgnc":"9154","ensembl":"ENSG00000039650","omim":"605610","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"25728773[PMID]_27066586[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25728773[PMID]_27066586[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-18","source":"29498415[PMID]_28552035[PMID]_25728773[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001780","label":"Abnormality of toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002442","label":"Dyscalculia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008955","label":"Progressive distal muscular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Excluded (0%)","criteria":null}]}}