{"Name":"Hereditary motor and sensory neuropathy with acrodystrophy","DiseaseID__c":"GARD:0019124","id":19124,"encodedName":"hereditary-motor-and-sensory-neuropathy-with-acrodystrophy","IsDeleted":false,"Disease_Name_Full__c":"Hereditary motor and sensory neuropathy with acrodystrophy","Xref_IDs__c":"771144005; C4749729; MEDGEN:1669448; MONDO:0019550; ORPHA:90119","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019550","Disease_Description__c":"Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.","GARD_Name__c":"Hereditary motor and sensory neuropathy with acrodystrophy","GARD_Synonym__c":"ar-cmt2 with acrodystrophy; autosomal recessive axonal charcot-marie-tooth disease with acrodystrophy; autosomal recessive charcot-marie-tooth type 2 with acrodystrophy; hmsn with acrodystrophy","Curated_Disease_Description_Source__c":"ORPHA:90119","Curated_Disease_Description__c":"Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:90119","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019550","ORPHANET_ID__c":"ORPHA:90119","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía sensitivo-motora hereditaria con acrodistrofia","Spanish_Description_Source__c":"ORPHA:90119","Spanish_Description__c":"La neuropatía sensitivo-motora hereditaria con acrodistrofia, es una neuropatía sensitivo-motora hereditaria axonal poco frecuente. Está caracterizada por neuropatía axonal progresiva con debilidad en las extremidades y pérdida sensitiva distal grave en todas las extremidades, así como cambios acrodistróficos que conducen a úlceras no curativas sin dolor, osteomielitis, contracturas y lesiones por mutilación con pérdida de las falanges terminales. Se ha descrito en una familia con tres hermanos afectados y no ha habido más casos descritos en la literatura desde 1999.","Spanish_Disease_Name__c":"neuropatía sensitivo-motora hereditaria con acrodistrofia","Spanish_GARD_Synonym__c":"cmt2-ar con acrodistrofia; enfermedad de charcot-marie-tooth autosómica recesiva tipo 2 con acrodistrofia; enfermedad de charcot-marie-tooth axonal autosómica recesiva con acrodistrofia; hmsn con acrodistrofia","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":"Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges.","Curated_Disease_Description_Source__c":"ORPHA:90119","GARD_Synonym__c":"ar-cmt2 with acrodystrophy; autosomal recessive axonal charcot-marie-tooth disease with acrodystrophy; autosomal recessive charcot-marie-tooth type 2 with acrodystrophy; hmsn with acrodystrophy","Name":"Hereditary motor and sensory neuropathy with acrodystrophy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Charcot-Marie-Tooth Association","Website__c":"https://www.cmtausa.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":"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1669448","Source__c":"C4749729","Xref__c":"MEDGEN:1669448"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749729","Source__c":"C4749729","Xref__c":"C4749729"},{"URL__c":"https://www.orpha.net/en/disease/detail/90119","Source__c":"C4749729; MONDO:0019550; ORPHA:90119","Xref__c":"ORPHA:90119"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019550","Source__c":"GARD:0019124","Xref__c":"MONDO:0019550"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771144005","Source__c":"C4749729","Xref__c":"771144005"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["ar-cmt2 with acrodystrophy"," autosomal recessive axonal charcot-marie-tooth disease with acrodystrophy"," autosomal recessive charcot-marie-tooth type 2 with acrodystrophy"," hmsn with acrodystrophy"]}