{"orpha":2406,"name":"Locked-in syndrome","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["LIS","Pseudocoma"],"definition":"A rare neurologic disease characterized by severe paralysis of the limbs and the oral structures causing the person to be completely dependent on help in all activities of daily living and communication, while having preserved cognition. Most commonly, the term locked-in syndrome (LIS) is used when the condition is caused by acquired brain injury (as in this text), but sometimes also when referring to the advanced stage of certain neurodegenerative disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2406/","orphanet_url":"https://www.orpha.net/en/disease/detail/2406","names":{"fr":{"name":"Locked-in syndrome","synonyms":["LIS","Pseudo-coma","Syndrome d'enfermement","Syndrome de verrouillage"],"definition":"Maladie neurologique rare caractérisée par une paralysie sévère des membres et de la commande buccale rendant la personne totalement dépendante d'une aide pour toutes les activités de la vie quotidienne et de la communication, ses facultés cognitives étant préservées. Le plus souvent, le terme locked-in syndrome (LIS) est utilisé en cas de maladie causée par une lésion cérébrale acquise (comme c'est le cas dans le présent texte), mais il peut parfois désigner le stade avancé de certains troubles neurodégénératifs."},"de":{"name":"Locked-in-Syndrom","synonyms":["LIS","Pseudokoma"],"definition":"Eine seltene neurologische Störung, die durch eine schwere Lähmung der Gliedmaßen und der Mundstrukturen gekennzeichnet ist und dazu führt, dass die betroffene Person bei allen Aktivitäten des täglichen Lebens und der Kommunikation vollständig auf Hilfe angewiesen ist, während die kognitiven Fähigkeiten erhalten bleiben. Am häufigsten wird der Begriff ,,Locked-in-Syndrom'' (LIS) verwendet, wenn die Erkrankung durch eine erworbene Hirnverletzung verursacht wird (wie in diesem Text), manchmal aber auch, wenn auf das fortgeschrittene Stadium bestimmter neurodegenerativer Erkrankungen Bezug genommen wird."},"es":{"name":"Síndrome de cautiverio","synonyms":["Pseudocoma","Síndrome de enclaustramiento"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por una parálisis grave de las extremidades y de las estructuras orales que hace que la persona sea completamente dependiente para todas las actividades de la vida diaria así como para comunicarse, preservando al mismo tiempo la capacidad cognitiva. Habitualmente, se emplea el término de síndrome de cautiverio (LIS; por sus siglas en inglés) cuando la afección está causada por una lesión cerebral adquirida (como en este caso), pero también para hacer referencia a etapas avanzada de ciertos trastornos neurodegenerativos."},"it":{"name":"Sindrome ''locked-in''","synonyms":["LIS","Pseudocoma"],"definition":"La sindrome \"locked-in\" (LIS) è una malattia neurologica con apertura oculare protratta, tetraplegia o tetraparesi, anartria, funzione cognitiva preservata e codice comunicativo di base, mediante movimenti oculari verticali o ammiccamento delle palpebre."},"nl":{"name":"Locked-in syndroom","synonyms":["'Locked in'-syndroom","LIS","Pseudocoma"],"definition":"Een zeldzame neurologische aandoening, gekenmerkt door ernstige verlamming van de ledematen en orale structuren waardoor de patiënt afhankelijk is van hulp voor alle dagdagelijkse activiteiten en communicatie, terwijl cognitie behouden blijft. Doorgaans wordt de term locked-in syndroom (LIS) gebruikt wanneer de aandoening veroorzaakt wordt door verworven hersenletsel (zoals in deze tekst), maar soms ook wanneer verwezen wordt naar de gevorderde stadia van bepaalde neurodegeneratieve aandoeningen."},"pt":{"name":"Síndrome de encarceramento","synonyms":["LIS","Pseudocoma","Síndrome ´locked-in´"],"definition":"Doença neurológica rara caracterizada por paralisia grave dos membros e das estruturas orais, fazendo com que a pessoa fique completamente dependente de ajuda em todas as atividades da vida diária e comunicação, enquanto tem a cognição preservada. Mais comumente, o termo síndrome do encarceramento (LIS) é usado quando a condição é causada por lesão cerebral adquirida (como neste texto), mas às vezes também quando se refere ao estágio avançado de certos distúrbios neurodegenerativos."},"pl":{"name":"Zespół zamknięcia","synonyms":["LIS","Pseudocoma"]},"cs":{"name":"Locked-in syndrom","synonyms":["Cerebromedullospinální rozpojení","Syndrom uzamčení"]},"uk":{"name":"Синдром запертої людини","synonyms":["LIS","Псевдокома"],"definition":"A rare neurologic disease characterized by severe paralysis of the limbs and the oral structures causing the person to be completely dependent on help in all activities of daily living and communication, while having preserved cognition. Most commonly, the term locked-in syndrome (LIS) is used when the condition is caused by acquired brain injury (as in this text), but sometimes also when referring to the advanced stage of certain neurodegenerative disorders."},"zh":{"name":"闭锁综合征","synonyms":["脑延脊髓中断"]},"tr":{"name":"Locked-in sendromu","synonyms":["Serebromedullospinal ayrılma"]}},"xrefs":[{"source":"ICD-10","code":"G83.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8E45","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"17562655"},{"source":"MONDO","code":"0016567","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000080422","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023944","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6919","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10024792","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002425","label":"Anarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Very frequent (99-80%)","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:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}