{"Name":"Pediatric multiple sclerosis","DiseaseID__c":"GARD:0010443","id":10443,"encodedName":"pediatric-multiple-sclerosis","IsDeleted":false,"Disease_Name_Full__c":"Pediatric multiple sclerosis","Xref_IDs__c":"1186728004; C5568571; MEDGEN:1799994; MONDO:0018784; ORPHA:477738","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018784","Disease_Description__c":"Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.","GARD_Name__c":"Pediatric multiple sclerosis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Pediatric multiple sclerosis (MS) is a rare type of MS that affects children and teenagers. It is characterized by episodes of symptoms related to damage of the central nervous system, which is responsible for controlling the body's movements and sensations. These symptoms are caused by inflammation and damage to the protective coating around the nerves, called myelin. Pediatric MS patients usually experience episodes of symptoms that come and go, with the first episode often involving problems with vision, movement, or feeling. Doctors can diagnose pediatric MS by looking for signs of inflammation and damage in the brain and spinal cord using MRI scans.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:477738","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018784","ORPHANET_ID__c":"ORPHA:477738","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esclerosis múltiple pediátrica","Spanish_Description_Source__c":"ORPHA:477738","Spanish_Description__c":"Es una variante poco frecuente de esclerosis múltiple caracterizada por su presentación de esclerosis múltiple antes de los 18 años de edad (es decir, uno o varios episodios de síntomas clínicos del SNC compatibles con desmielinización adquirida del SNC, con diseminación radiológica comprobada de lesiones inflamatorias en el espacio y el tiempo, después de la exclusión de otros trastornos). Los pacientes pediátricos con EM presentan un curso predominantemente remitente-recurrente, con un primer brote generalmente en forma de neuritis óptica, mielitis transversa, encefalomielitis aguda diseminada y déficits neurológicos mono- o polifocales. Se ha comunicado la presencia de un gran número de lesiones hiperintensas en T2 en las RMN iniciales, principalmente en la región supratentorial y / o en la médula espinal cervical.","Spanish_Disease_Name__c":"esclerosis múltiple pediátrica","Spanish_GARD_Synonym__c":null,"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":"Pediatric multiple sclerosis (MS) is a rare type of MS that affects children and teenagers. It is characterized by episodes of symptoms related to damage of the central nervous system, which is responsible for controlling the body's movements and sensations. These symptoms are caused by inflammation and damage to the protective coating around the nerves, called myelin. Pediatric MS patients usually experience episodes of symptoms that come and go, with the first episode often involving problems with vision, movement, or feeling. Doctors can diagnose pediatric MS by looking for signs of inflammation and damage in the brain and spinal cord using MRI scans.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Name":"Pediatric multiple sclerosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pediatric Multiple Sclerosis Alliance","Website__c":"https://pediatricms.org/"},{"Account_Name__c":"National Multiple Sclerosis Society","Website__c":"https://www.nationalmssociety.org/"},{"Account_Name__c":"Multiple Sclerosis Association of America","Website__c":"https://mymsaa.org/"},{"Account_Name__c":"Multiple Sclerosis Foundation","Website__c":"https://msfocus.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:477738"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:477738"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010443","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/477738","Source__c":"C5568571; MONDO:0018784; ORPHA:477738","Xref__c":"ORPHA:477738"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568571","Source__c":"C5568571","Xref__c":"C5568571"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799994","Source__c":"C5568571","Xref__c":"MEDGEN:1799994"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018784","Source__c":"GARD:0010443","Xref__c":"MONDO:0018784"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1186728004","Source__c":"C5568571","Xref__c":"1186728004"}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Pediatrics"]},"synonyms":[""]}