{"Name":"Charcot-Marie-Tooth disease type 4","DiseaseID__c":"GARD:0012440","id":12440,"encodedName":"charcot-marie-tooth-disease-type-4","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type 4","Xref_IDs__c":"715795005; C4082197; DOID:0050541; MEDGEN:905419; MONDO:0018995; ORPHA:64749","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018995","Disease_Description__c":"A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.","GARD_Name__c":"Charcot-Marie-Tooth disease type 4","GARD_Synonym__c":"ar-cmt1; autosomal recessive demyelinating charcot-marie-tooth; charcot-marie-tooth disease, type iv; charcot-marie-tooth, type 4; cmt4","Curated_Disease_Description_Source__c":"GARD:0012440","Curated_Disease_Description__c":"Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). CMT4 causes weakness, usually mostly distal (situated away from the center of the body) but sometimes involving proximal (near the center of the body) muscles. The most common symptoms are walking difficulties with steppage gait or an abnormally high arched foot (pes cavus) pes cavus. Hammer toes and other skeletal deformities, such as an abnormal lateral curvature of the spine (scoliosis), are often observed. Some affected people have changes in sensations (such as the sense of touch or ability to perceive temperature changes). When CMT4 begins in infancy, it is characterized by low muscle tone. CMT4 patients may also develop other symptoms such as cataracts or deafness. Generally, cases of CMT4 present earlier and with more severe symptoms compared to CMT1 or CMT2. Several genes have been identified as causing CMT4, including GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2 (CMT4B2), SBF1 (CMT4B3), SH3TC2 (CMT4C), NDG1(CMT4D), EGR2 (CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4 (CMT4J). CMT4 inheritance is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:64749","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018995","ORPHANET_ID__c":"ORPHA:64749","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 4","Spanish_Description_Source__c":"ORPHA:64749","Spanish_Description__c":"Es un trastorno perteneciente a un grupo genéticamente heterogéneo de polineuropatías sensitivo-motoras periféricas CMT.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 4","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":"Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). CMT4 causes weakness, usually mostly distal (situated away from the center of the body) but sometimes involving proximal (near the center of the body) muscles. The most common symptoms are walking difficulties with steppage gait or an abnormally high arched foot (pes cavus) pes cavus. Hammer toes and other skeletal deformities, such as an abnormal lateral curvature of the spine (scoliosis), are often observed. Some affected people have changes in sensations (such as the sense of touch or ability to perceive temperature changes). When CMT4 begins in infancy, it is characterized by low muscle tone. CMT4 patients may also develop other symptoms such as cataracts or deafness. Generally, cases of CMT4 present earlier and with more severe symptoms compared to CMT1 or CMT2. Several genes have been identified as causing CMT4, including GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2 (CMT4B2), SBF1 (CMT4B3), SH3TC2 (CMT4C), NDG1(CMT4D), EGR2 (CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4 (CMT4J). CMT4 inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"GARD:0012440","GARD_Synonym__c":"ar-cmt1; autosomal recessive demyelinating charcot-marie-tooth; charcot-marie-tooth disease, type iv; charcot-marie-tooth, type 4; cmt4","Name":"Charcot-Marie-Tooth disease type 4","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ACMT-Rete per la malattia di Charcot-Marie-Tooth","Website__c":"https://www.acmt-rete.it/"},{"Account_Name__c":"CMT Research Foundation","Website__c":"https://cmtrf.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Fondazione Telethon","Website__c":"https://www.fondazionetelethon.it/"},{"Account_Name__c":"Hereditary Neuropathy Foundation Inc.","Website__c":"https://www.hnf-cure.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Asociación Distrofia Muscular para las Enfermedades Neuromusculares","Website__c":"https://adm.org.ar/newsite/"},{"Account_Name__c":"Asociación de Distrofia Muscular de Puerto Rico","Website__c":"http://www.prmda.org/"},{"Account_Name__c":"Charcot-Marie-Tooth Association Australia Inc.","Website__c":"https://www.cmt.org.au"},{"Account_Name__c":"Charcot-Marie-Tooth Association","Website__c":"https://www.cmtausa.org/"},{"Account_Name__c":"Charcot-Marie-Tooth UK","Website__c":"https://www.cmt.org.uk/"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:64749"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:64749"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050541","Source__c":"MONDO:0018995","Xref__c":"DOID:0050541"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715795005","Source__c":"C4082197; MONDO:0018995","Xref__c":"715795005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=905419","Source__c":"C4082197","Xref__c":"MEDGEN:905419"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4082197","Source__c":"C4082197","Xref__c":"C4082197"},{"URL__c":"https://www.orpha.net/en/disease/detail/64749","Source__c":"C4082197; MONDO:0018995; ORPHA:64749","Xref__c":"ORPHA:64749"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018995","Source__c":"GARD:0012440","Xref__c":"MONDO:0018995"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["ar-cmt1"," autosomal recessive demyelinating charcot-marie-tooth"," charcot-marie-tooth disease, type iv"," charcot-marie-tooth, type 4"," cmt4"],"spanishId":12944,"spanishName":"enfermedad-de-charcot-marie-tooth-tipo-4"}