{"orpha":631248,"name":"Mitchell Syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic neurological disorder characterized by childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in a waxing and waning course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-631248/","orphanet_url":"https://www.orpha.net/en/disease/detail/631248","names":{"fr":{"name":"Syndrome de Mitchell","definition":"Maladie neurologique génétique rare caractérisée par l'apparition, pendant l'enfance ou l'adolescence, d'épisodes de démyélinisation progressive, d'une polyneuropathie sensorimotrice et d'une perte auditive. La progression et la gravité de la maladie sont variables. En général, les patients finissent par développer, de façon inconstante, une insuffisance respiratoire, une perte de motricité et de mobilité, une ataxie et des troubles cognitifs. Des problèmes de vision et des éruptions cutanées sont fréquemment décrites."},"de":{"name":"Mitchell-Syndrom","definition":"Eine seltene genetisch bedingte neurologische Erkrankung, die durch eine im Kindes- bis Jugendalter einsetzende, schubweise verlaufende progressive Demyelinisierung, sensomotorische Polyneuropathie und Hörverlust gekennzeichnet ist. Der Krankheitsverlauf und die Schwere der Erkrankung sind unterschiedlich. Im Allgemeinen entwickeln die Patienten im Rahmen eines zu- und abnehmenden Verlaufs schließlich eine Ateminsuffizienz, einen Verlust der motorischen Fähigkeiten und der Gehfähigkeit, eine Ataxie und einen kognitiven Verfall. Sehstörungen und Hautausschläge werden häufig berichtet."},"es":{"name":"Síndrome de Mitchell","definition":"Es un trastorno neurológico poco frecuente de carácter genético caracterizado por episodios de desmielinización progresiva de inicio en la infancia y la adolescencia, polineuropatía sensitivomotora e hipoacusia. La progresión y la gravedad de la enfermedad son variables. En general, los pacientes desarrollan, eventualmente y de forma variable, insuficiencia respiratoria, pérdida de habilidades motoras y de la deambulación, ataxia y deterioro cognitivo. Con frecuencia se describen problemas de visión y erupciones cutáneas."},"it":{"name":"Sindrome di Mitchell"},"nl":{"name":"Syndroom van Mitchell","definition":"Een zeldzame, genetische neurologische aandoening, gekenmerkt door aanvang in de kindertijd tot adolescentie van progressieve demyelinisatie die optreedt in episodes, sensorimotorische polyneuropathie, en gehoorverlies. Mate van progressie en ernst van de ziekte zijn variabel. Doorgaans ontwikkelen patiënten in een op- en afgaand verloop uiteindelijk ademhalingsinsufficiëntie, verlies van motorische vaardigheden en loopvermogen, ataxie, en cognitieve achteruitgang. Problemen van gezichtsvermogen en huiduitslag worden vaak gerapporteerd."},"pt":{"name":"Síndrome Mitchell","definition":"Doença neurológica genética rara caracterizada por início da infância à adolescência de desmielinização progressiva ocorrendo em episódios, polineuropatia sensório-motora e perda auditiva. A progressão e a gravidade da doença são variáveis. Em geral, em um curso crescente e decrescente, os doentes eventualmente desenvolvem insuficiência respiratória, perda de habilidades motoras e da deambulação, ataxia e declínio cognitivo. São comumente reportados problemas de visão e erupções cutâneas."},"pl":{"name":"Zespół Mitchella","definition":"Rzadkie genetyczne zaburzenie neurologiczne charakteryzujące się postępującą demielinizacją, która ma postać epizodów występujących od dzieciństwa do okresu dojrzewania, polineuropatią czuciowo-ruchową i utratą słuchu. Postęp choroby i jej nasilenie są zmienne. Generalnie w miarę pojawiania się i ustępowania zmian chorobowych ostatecznie rozwija się niewydolność oddechowa, utrata możliwości poruszania, ataksja i pogorszenie funkcji poznawczych. Często zgłaszane są problemy ze wzrokiem i wysypki skórne."},"cs":{"name":"Mitchellův syndrom"},"uk":{"name":"Синдром Мітчелла","definition":"A rare genetic neurological disorder characterized by childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in a waxing and waning course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported."}},"xrefs":[{"source":"OMIM","code":"618960","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0030073","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5394554","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"ACOX1","name":"acyl-CoA oxidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32169171[PMID]","hgnc":"119","ensembl":"ENSG00000161533","omim":"609751","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"32169171[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"32169171[PMID] _ORPHANET"}],"phenotypes":null}