{"Name":"Charcot-Marie-Tooth disease type 2T","DiseaseID__c":"GARD:0017909","id":17909,"encodedName":"charcot-marie-tooth-disease-type-2t","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type 2T","Xref_IDs__c":"CN294759; MEDGEN:977506; MONDO:0044640; ORPHA:495274","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:495274","Disease_Description__c":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.","GARD_Name__c":"Charcot-Marie-Tooth disease type 2T","GARD_Synonym__c":"ar-cmt2t; autosomal recessive axonal charcot-marie-tooth disease type 2t; cmt2t","Curated_Disease_Description_Source__c":"ORPHA:495274","Curated_Disease_Description__c":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:495274","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044640","ORPHANET_ID__c":"ORPHA:495274","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 2t","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 2t","Spanish_GARD_Synonym__c":"cmt2t; cmt2t-ar; enfermedad de charcot-marie-tooth axonal autosómica recesiva tipo 2t","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":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.","Curated_Disease_Description_Source__c":"ORPHA:495274","GARD_Synonym__c":"ar-cmt2t; autosomal recessive axonal charcot-marie-tooth disease type 2t; cmt2t","Name":"Charcot-Marie-Tooth disease type 2T","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CMT Research Foundation","Website__c":"https://cmtrf.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:495274"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/495274","Source__c":"CN294759; MONDO:0044640","Xref__c":"ORPHA:495274"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044640","Source__c":"GARD:0017909","Xref__c":"MONDO:0044640"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN294759","Source__c":"CN294759","Xref__c":"CN294759"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=977506","Source__c":"CN294759","Xref__c":"MEDGEN:977506"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MME","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["ar-cmt2t"," autosomal recessive axonal charcot-marie-tooth disease type 2t"," cmt2t"]}