{"Name":"Acute disseminated encephalomyelitis","DiseaseID__c":"GARD:0008639","id":8639,"encodedName":"acute-disseminated-encephalomyelitis","IsDeleted":false,"Disease_Name_Full__c":"Acute disseminated encephalomyelitis","Xref_IDs__c":"83942000; C0014059; C34578; D004673; DOID:639; MEDGEN:4033; MONDO:0019383; ORPHA:83597","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019383","Disease_Description__c":"A demyelinating disorder of the central nervous system.","GARD_Name__c":"Acute disseminated encephalomyelitis","GARD_Synonym__c":"acute disseminated encephalitis; adem; adem - acute disseminated encephalomyelitis; post-infectious encephalomyelitis","Curated_Disease_Description_Source__c":"GARD:0008639","Curated_Disease_Description__c":"Acute disseminated encephalomyelitis (ADEM) is a neurological condition characterized by a brief but intense attack of inflammation in the brain and spinal cord. This may lead to damage of the layer of insulation around the nerves (myelin) within affected areas. ADEM often follows viral infection, or less often, vaccinations for measles, mumps, or rubella (MMR). Symptoms usually appear rapidly, beginning with fever, fatigue, headache, nausea and vomiting.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:83597","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019383","ORPHANET_ID__c":"ORPHA:83597","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalomielitis aguda diseminada","Spanish_Description_Source__c":"ORPHA:83597","Spanish_Description__c":"Es un trastorno desmielinizante del sistema nervioso central.","Spanish_Disease_Name__c":"encefalomielitis aguda diseminada","Spanish_GARD_Synonym__c":"adem; emad; encefalitis aguda diseminada; encefalomielitis aguda desmielinizante","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":"Acute disseminated encephalomyelitis (ADEM) is a neurological condition characterized by a brief but intense attack of inflammation in the brain and spinal cord. This may lead to damage of the layer of insulation around the nerves (myelin) within affected areas. ADEM often follows viral infection, or less often, vaccinations for measles, mumps, or rubella (MMR). Symptoms usually appear rapidly, beginning with fever, fatigue, headache, nausea and vomiting.","Curated_Disease_Description_Source__c":"GARD:0008639","GARD_Synonym__c":"acute disseminated encephalitis; adem; adem - acute disseminated encephalomyelitis; post-infectious encephalomyelitis","Name":"Acute disseminated encephalomyelitis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ben's Friends","Website__c":"https://www.bensfriends.org/"},{"Account_Name__c":"Encephalitis Society","Website__c":"https://www.encephalitis.info/"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Brain & Spine Foundation","Website__c":"https://www.brainandspine.org.uk/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Encephalitis411","Website__c":"https://encephalitis411.org/"},{"Account_Name__c":"National Multiple Sclerosis Society","Website__c":"https://www.nationalmssociety.org/"},{"Account_Name__c":"United Leukodystrophy Foundation","Website__c":"https://ulf.org/"},{"Account_Name__c":"Siegel Rare Neuroimmune Association","Website__c":"https://wearesrna.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"Autoimmune Encephalitis Alliance","Website__c":"https://aealliance.org/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:83597"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A639","Source__c":"MONDO:0019383","Xref__c":"DOID:639"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C004673","Source__c":"C0014059; MONDO:0019383","Xref__c":"D004673"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34578","Source__c":"C0014059; MONDO:0019383","Xref__c":"C34578"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=83942000","Source__c":"C0014059; MONDO:0019383","Xref__c":"83942000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=4033","Source__c":"C0014059","Xref__c":"MEDGEN:4033"},{"URL__c":"https://www.orpha.net/en/disease/detail/83597","Source__c":"C0014059; MONDO:0019383; ORPHA:83597","Xref__c":"ORPHA:83597"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0014059","Source__c":"C0014059","Xref__c":"C0014059"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019383","Source__c":"GARD:0008639","Xref__c":"MONDO:0019383"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006824","HPO_Synonym__c":"Cranial nerve palsies; Cranial nerve palsy; Cranial nerve paresis","HPO_Name__c":"Cranial nerve paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Infection with the rubella virus of the live-attenuated vaccine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020089","HPO_Name__c":"Post-vaccination rubella","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001317","HPO_Synonym__c":"Abnormality of the cerebellum; Cerebellar abnormalities; Cerebellar abnormality; Cerebellar anomaly; Cerebellar signs","HPO_Name__c":"Abnormal cerebellum morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100653","HPO_Name__c":"Optic neuritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. 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The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032492","HPO_Synonym__c":"Anti-MOG antibody positivity","HPO_Name__c":"Anti-myelin oligodendrocyte glycoprotein antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030857","HPO_Name__c":"Eye movement-induced pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004305","HPO_Synonym__c":"Involuntary movements; Involuntary muscle contractions","HPO_Name__c":"Involuntary movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An unusually severe infection by a parainfluenza virus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031695","HPO_Name__c":"Severe parainfluenza infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the basal ganglia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002134","HPO_Synonym__c":"Abnormality of the basal ganglia; Anomaly of the basal ganglia; Basal ganglia disease","HPO_Name__c":"Abnormal basal ganglia morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025373","HPO_Name__c":"Interictal EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001259","HPO_Synonym__c":"Coma; Persistent vegetative state; Stupor; Unconsciousness","HPO_Name__c":"Coma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves of a duration less than 80 msec.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011193","HPO_Name__c":"EEG with focal spikes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of clarity and coherence of thought, perception, understanding, or action.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001289","HPO_Synonym__c":"Confusion; Disorientation; Easily confused; Mental disorientation","HPO_Name__c":"Confusion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010845","HPO_Synonym__c":"EEG: generalized slow activity","HPO_Name__c":"EEG with generalized slow activity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007103","HPO_Synonym__c":"White matter hypointensities on MRI","HPO_Name__c":"Hypointensity of cerebral white matter on MRI","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Frequent (30-79%)","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. 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Cerebrospinal fluid with increased protein; Elevated cerebrospinal fluid protein; Elevated csf protein; Hyperproteinorrhachia; Increased CSF protein; Increased protein in csf; Spinal fluid protein elevated","HPO_Name__c":"Increased CSF protein concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:83597","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of abnormally strong desire for sleep during the daytime.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001262","HPO_Synonym__c":"Excessive daytime sleepiness; More than typical sleepiness during day","HPO_Name__c":"Excessive daytime somnolence","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Ophthalmology","Epilepsy","Neuro-Ophthalmology","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["acute disseminated encephalitis"," adem"," adem - acute disseminated encephalomyelitis"," post-infectious encephalomyelitis"]}