{"Name":"Periodic paralysis with later-onset distal motor neuropathy","DiseaseID__c":"GARD:0021634","id":21634,"encodedName":"periodic-paralysis-with-later-onset-distal-motor-neuropathy","IsDeleted":false,"Disease_Name_Full__c":"Periodic paralysis with later-onset distal motor neuropathy","Xref_IDs__c":"774154008; C4751573; MEDGEN:1670241; MONDO:0018343; ORPHA:397750","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:397750","Disease_Description__c":"Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.","GARD_Name__c":"Periodic paralysis with later-onset distal motor neuropathy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:397750","Curated_Disease_Description__c":"Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:397750","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018343","ORPHANET_ID__c":"ORPHA:397750","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Parálisis periódica con neuropatía motora distal de inicio tardío","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"parálisis periódica con neuropatía motora distal de inicio tardío","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":"Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.","Curated_Disease_Description_Source__c":"ORPHA:397750","Name":"Periodic paralysis with later-onset distal motor neuropathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Periodic Paralysis Association","Website__c":"https://periodicparalysis.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:397750"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:397750"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751573","Source__c":"C4751573","Xref__c":"C4751573"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1670241","Source__c":"C4751573","Xref__c":"MEDGEN:1670241"},{"URL__c":"https://www.orpha.net/en/disease/detail/397750","Source__c":"C4751573; MONDO:0018343; ORPHA:397750","Xref__c":"ORPHA:397750"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=774154008","Source__c":"C4751573","Xref__c":"774154008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018343","Source__c":"GARD:0021634","Xref__c":"MONDO:0018343"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MT-ATP8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-ATP6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-atp6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Mitochondrial inheritance"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":[""]}