{"Name":"Locked-in syndrome","DiseaseID__c":"GARD:0006919","id":6919,"encodedName":"locked-in-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Locked-in syndrome","Xref_IDs__c":"38023001; C0023944; C197925; D000080422; DOID:12697; G83.5; MEDGEN:7378; MONDO:0016567; ORPHA:2406","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016567","Disease_Description__c":"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.","GARD_Name__c":"Locked-in syndrome","GARD_Synonym__c":"cerebromedullospinal disconnection; locked in syndrome; locked-in state","Curated_Disease_Description_Source__c":"GARD:0006919","Curated_Disease_Description__c":"Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles, except for those that control the eyes. People with Locked-in syndrome are conscious and can think and reason, but are unable to speak or move. Vertical eye movements and blinking can be used to communicate. Locked-in syndrome may be caused by brain stem stroke, traumatic brain injury, tumors, diseases of the circulatory system (bleeding), diseases that destroy the myelin sheath surrounding nerve cells (like multiple sclerosis), infection, or medication overdose.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2406","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016567","ORPHANET_ID__c":"ORPHA:2406","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cautiverio","Spanish_Description_Source__c":"ORPHA:2406","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"síndrome de cautiverio","Spanish_GARD_Synonym__c":"pseudocoma; síndrome de enclaustramiento","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles, except for those that control the eyes. People with Locked-in syndrome are conscious and can think and reason, but are unable to speak or move. Vertical eye movements and blinking can be used to communicate. Locked-in syndrome may be caused by brain stem stroke, traumatic brain injury, tumors, diseases of the circulatory system (bleeding), diseases that destroy the myelin sheath surrounding nerve cells (like multiple sclerosis), infection, or medication overdose.","Curated_Disease_Description_Source__c":"GARD:0006919","GARD_Synonym__c":"cerebromedullospinal disconnection; locked in syndrome; locked-in state","Name":"Locked-in syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Brain Foundation","Website__c":"http://www.brainfoundation.org.au/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2406"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7378","Source__c":"C0023944","Xref__c":"MEDGEN:7378"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000080422","Source__c":"C0023944; MONDO:0016567","Xref__c":"D000080422"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=38023001","Source__c":"C0023944; MONDO:0016567","Xref__c":"38023001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023944","Source__c":"C0023944","Xref__c":"C0023944"},{"URL__c":"https://www.orpha.net/en/disease/detail/2406","Source__c":"C0023944; MONDO:0016567; ORPHA:2406","Xref__c":"ORPHA:2406"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12697","Source__c":"MONDO:0016567","Xref__c":"DOID:12697"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G83.5","Source__c":"MONDO:0016567","Xref__c":"G83.5"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C197925","Source__c":"C0023944","Xref__c":"C197925"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016567","Source__c":"GARD:0006919","Xref__c":"MONDO:0016567"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/locked-syndrome"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002445","HPO_Synonym__c":"Paralysis of all four limbs; Quadriplegia","HPO_Name__c":"Tetraplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of all four limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002273","HPO_Synonym__c":"Quadriparesis","HPO_Name__c":"Tetraparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001608","HPO_Synonym__c":"Abnormality of the voice; Voice abnormality","HPO_Name__c":"Abnormality of the voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A defect in the motor ability that enables speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002425","HPO_Synonym__c":"Loss of articulate speech","HPO_Name__c":"Anarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100021","HPO_Synonym__c":"Cerebral paralysis; CP","HPO_Name__c":"Cerebral palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2406","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive production of saliva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003781","HPO_Synonym__c":"Excessive production of saliva; Excessive salivation; Hypersalivation; Mouth watering; Oversalivation; Ptyalism; Watery mouth","HPO_Name__c":"Excessive salivation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Pediatrics"]},"synonyms":["cerebromedullospinal disconnection"," locked in syndrome"," locked-in state"],"spanishId":13212,"spanishName":"sindrome-de-enclaustramiento"}