{"orpha":101150,"name":"Autosomal recessive dopa-responsive dystonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive Segawa syndrome","DYT5b","Tyrosine hydroxylase deficiency","Tyrosine hydroxylase-deficient dopa-responsive dystonia"],"definition":"A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101150/","orphanet_url":"https://www.orpha.net/en/disease/detail/101150","names":{"fr":{"name":"Dystonie dopa-sensible autosomique récessive","synonyms":["DYT5b","Dystonie dopa-sensible par déficit en tyrosine hydroxylase","Déficit en tyrosine hydroxylase","Syndrome de Segawa autosomique récessif"],"definition":"La dystonie dopa-sensible autosomique récessive (DYT5b) est un trouble neurométabolique très rare, caractérisé par un ensemble de symptômes présents aussi bien dans la dystonie dopa-sensible (DRD pour Dopa-responsive dystonia) que dans l'encéphalopathie infantile progressive."},"de":{"name":"Dopa-responsive Dystonie, autosomal-rezessive","synonyms":["DYT5b","Segawa-Syndrom, autosomal-rezessives","Tyrosin-Hydroxylase-Mangel","Tyrosin-Hydroxylase-defiziente dopa-responsive Dystonie"],"definition":"Die autosomal-rezessive Dopa-responsive Dystonie (DYT5b) ist eine sehr seltene Erkrankung und charakterisiert durch ein Symptomenspektrum, das vom Bild der Dopa-responsiven Dystonie (DRD; siehe dort) bis zur Symptomatik einer progressiven infantilen Enzephalopathie reicht."},"es":{"name":"Distonía dopa-sensible autosómica recesiva","synonyms":["DYT5b","Deficiencia de tirosina hidroxilasa","Distonía dopa-sensible deficiente en tirosina hidroxilasa","Síndrome de Segawa autosómico recesivo"],"definition":"Es un trastorno neurometabólico muy infrecuente que se caracteriza por un espectro de síntomas que van desde los observados en la distonía sensible a dopa (DRD; ver este término) hasta la encefalopatía infantil progresiva."},"it":{"name":"Distonia Dopa-sensibile autosomica recessiva","synonyms":["DYT5b","Deficit di tirosina idrossilasi","Distonia Dopa-sensibile da deficit di tirosina idrossilasi","Sindrome di Segawa autosomica recessiva"],"definition":"La distonia Dopa-sensibile autosomica recessica (DYT5b) è una malattia neurometabolica molto rara, caratterizzata da uno spettro di sintomi che varia tra quelli tipici della distonia Dopa-sensibile (DRD; si veda questo termine) e l'encefalopatia infantile progressiva."},"nl":{"name":"Autosomaal recessieve doparesponsieve dystonie","synonyms":["Autosomaal recessief syndroom van Segawa","DYT5b","Tyrosinehydroxylasedeficiënte doparesponsieve dystonie","Tyrosinehydroxylasedeficiëntie"],"definition":"Een zeer zeldzame neurometabole aandoening, gekarakteriseerd door een spectrum van symptomen gaande van de symptomen die worden waargenomen bij doparesponsieve dystonie (DRD) tot die van progressieve infantiele encefalopathie."},"pt":{"name":"Distonia sensível à dopa autossómica recessiva"},"pl":{"name":"Autosomalna recesywna dystonia reagująca na L-dopa","synonyms":["Autosomalny recesywny zespół Segawa","Dystonia z niedoborem hydroksylazy tyrozyny wrażliwa na L-dopa","Niedobór hydrolazy tyrozyny"],"definition":"Autosomalna recesywna dystonia wrażliwa na lewodopę (DYT5b) to bardzo rzadka choroba neurometaboliczna charakteryzująca się spektrum objawów od tych właściwych dla dystonii wrażliwej na lewodopę (DRD; sprawdź ten termin), do postępującej encefalopatii dziecięcej."},"cs":{"name":"Autozomálně recesivní dopa-responzivní dystonie","synonyms":["DYT5b","Deficit tyrosin hydroxylázy","Tyrosin hydroxyláza-deficientní dopa-responzivní dystonie","Autozomálně recesivní Segawova nemoc"]},"uk":{"name":"Аутосомно-рецесивна дофа-залежна дистонія","synonyms":["Аутосомно-рецесивний синдром Сегави","DYT5b","Дефіцит тирозин гідроксилази","Тирозин-гідроксилазно-дефіцитна допа-реактивна дистонія"],"definition":"A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy."},"zh":{"name":"常染色体隐性遗传多巴反应性肌张力障碍","synonyms":["酪氨酸羟化酶缺陷所致多巴反应性肌张力障碍"],"definition":"常染色体隐性遗传性多巴反应性肌张力障碍是一种非常罕见的神经代谢紊乱，其特征是一系列症状，从多巴反应性肌张力障碍(DRD)到进行性婴儿脑病。"},"tr":{"name":"Otozomal resesif dopaya duyarlı distoni","synonyms":["DYT5b","Tirozin hidroksilaz eksikliği","Otozomal çekinik Segawa sendromu","Tirozin hidroksilaz eksikliği olan dopa-duyarlı distoni"]}},"xrefs":[{"source":"OMIM","code":"605407","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"620453","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1208668939"},{"source":"MONDO","code":"0011551","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537537","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5700309","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1902","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":284818,"name":"Disorder of tyrosine metabolism","classifications":[150,156]},{"orpha":255,"name":"Dopa-responsive dystonia","classifications":[150,156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TSPOAP1","name":"TSPO associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33539324[PMID]","hgnc":"16831","ensembl":"ENSG00000005379","omim":"610764","loci":["17q22"]},{"symbol":"TH","name":"tyrosine hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11782","ensembl":"ENSG00000180176","omim":"191290","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-28","source":"8817341[PMID]_16722965[PMID]_22030388[PMID]_20482602[PMID]","terms":[{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","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:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003785","label":"Decreased CSF homovanillic acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003781","label":"Excessive salivation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030166","label":"Night sweats","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010553","label":"Oculogyric crisis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002448","label":"Progressive encephalopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}