{"Name":"Progressive encephalomyelitis with rigidity and myoclonus","DiseaseID__c":"GARD:0013110","id":13110,"encodedName":"progressive-encephalomyelitis-with-rigidity-and-myoclonus","IsDeleted":false,"Disease_Name_Full__c":"Progressive encephalomyelitis with rigidity and myoclonus","Xref_IDs__c":"C1861457; MEDGEN:349287; MONDO:0018581; ORPHA:438266","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":"ORPHA:438266","Disease_Description__c":"A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.","GARD_Name__c":"Progressive encephalomyelitis with rigidity and myoclonus","GARD_Synonym__c":"perm; progressive encephalomyelitis with rigidity","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Progressive encephalomyelitis with rigidity and myoclonus is a type of rare condition called a stiff person syndrome. It affects the body's ability to move. It causes stiffness in the limbs and trunk, spasms that are triggered by certain things, sudden muscle jerks, and problems with the autonomic nervous system (the part of the nervous system responsible for controlling involuntary body functions like the beating of the heart). It can also affect the brainstem and other parts of the nervous system. This condition gets worse over time and can be very dangerous, especially if it affects breathing. It may be linked to certain antibodies in the body (glycine receptor or glutamic acid decarboxylase antibodies) or to tumors in the thymus or lymph nodes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as an Adult","SourceID__c":"ORPHA:438266","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018581","ORPHANET_ID__c":"ORPHA:438266","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalomielitis progresiva con rigidez y mioclonías","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"encefalomielitis progresiva con rigidez y mioclonías","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":"Progressive encephalomyelitis with rigidity and myoclonus is a type of rare condition called a stiff person syndrome. It affects the body's ability to move. It causes stiffness in the limbs and trunk, spasms that are triggered by certain things, sudden muscle jerks, and problems with the autonomic nervous system (the part of the nervous system responsible for controlling involuntary body functions like the beating of the heart). It can also affect the brainstem and other parts of the nervous system. This condition gets worse over time and can be very dangerous, especially if it affects breathing. It may be linked to certain antibodies in the body (glycine receptor or glutamic acid decarboxylase antibodies) or to tumors in the thymus or lymph nodes.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"perm; progressive encephalomyelitis with rigidity","Name":"Progressive encephalomyelitis with rigidity and myoclonus","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Stiff Person Syndrome Research Foundation","Website__c":"https://stiffperson.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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:438266"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:438266"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349287","Source__c":"C1861457","Xref__c":"MEDGEN:349287"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861457","Source__c":"C1861457","Xref__c":"C1861457"},{"URL__c":"https://www.orpha.net/en/disease/detail/438266","Source__c":"C1861457; MONDO:0018581; ORPHA:438266","Xref__c":"ORPHA:438266"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018581","Source__c":"GARD:0013110","Xref__c":"MONDO:0018581"}],"tags":{"Disease Category":["Neurology","Endocrine"],"Specialist":["Neurology","Endocrine","Pediatrics"]},"synonyms":["perm"," progressive encephalomyelitis with rigidity"]}