{"Name":"Distal hereditary motor neuropathy type 2","DiseaseID__c":"GARD:0016954","id":16954,"encodedName":"distal-hereditary-motor-neuropathy-type-2","IsDeleted":false,"Disease_Name_Full__c":"Distal hereditary motor neuropathy type 2","Xref_IDs__c":"C3711384; C580044; DOID:0111206; MEDGEN:777992; MONDO:0015352; ORPHA:139525","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:139525","Disease_Description__c":"A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.","GARD_Name__c":"Distal hereditary motor neuropathy type 2","GARD_Synonym__c":"dhmn2; distal spinal muscular atrophy type 2; dsma2","Curated_Disease_Description_Source__c":"ORPHA:139525","Curated_Disease_Description__c":"Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells (neurons) in the brain and spinal cord. This condition specifically affects motor neurons, which are specialized cells that control muscle movement. Damage to motor neurons results in muscle weakness that worsens over time. Distal hereditary motor neuropathy, type II weakness primarily affects movement in the legs. The signs and symptoms of distal hereditary motor neuropathy, type II often begin in adolescence to mid-adulthood. The initial symptoms of the disorder are cramps or weakness in the muscles of the big toe and, later, the entire foot. During the next 5 to 10 years, affected individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs, which can lead to problems with walking (gait disturbance) and high arches (pes cavus). Over time, the lower legs may become paralyzed. The thigh muscles may also undergo muscle atrophy, although this generally occurs later and is less severe than the muscle atrophy in the lower legs. Some individuals with distal hereditary motor neuropathy, type II can also experience weaken the muscles in the hands and forearms. This weakening is less severe than the weakening in the lower limbs and does not usually lead to paralysis. In rare cases, affected individuals experience hearing loss. People with distal hereditary motor neuropathy, type II can have exaggerated reflexes (hyperreflexia) or other minor disturbances in the nerves used to detect sensations (sensory neuropathy). Sensory neuropathy is uncommon in people with distal hereditary motor neuropathy, type II and is typically a feature of a disorder calledCharcot-Marie-Tooth disease. These two disorders have overlapping features and can also share a genetic","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:139525","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015352","ORPHANET_ID__c":"ORPHA:139525","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía motora distal hereditaria tipo 2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neuropatía motora distal hereditaria tipo 2","Spanish_GARD_Synonym__c":"atrofia muscular espinal distal tipo 2; dhmn2; dsma2","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":"Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells (neurons) in the brain and spinal cord. This condition specifically affects motor neurons, which are specialized cells that control muscle movement. Damage to motor neurons results in muscle weakness that worsens over time. Distal hereditary motor neuropathy, type II weakness primarily affects movement in the legs. The signs and symptoms of distal hereditary motor neuropathy, type II often begin in adolescence to mid-adulthood. The initial symptoms of the disorder are cramps or weakness in the muscles of the big toe and, later, the entire foot. During the next 5 to 10 years, affected individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs, which can lead to problems with walking (gait disturbance) and high arches (pes cavus). Over time, the lower legs may become paralyzed. The thigh muscles may also undergo muscle atrophy, although this generally occurs later and is less severe than the muscle atrophy in the lower legs. Some individuals with distal hereditary motor neuropathy, type II can also experience weaken the muscles in the hands and forearms. This weakening is less severe than the weakening in the lower limbs and does not usually lead to paralysis. In rare cases, affected individuals experience hearing loss. People with distal hereditary motor neuropathy, type II can have exaggerated reflexes (hyperreflexia) or other minor disturbances in the nerves used to detect sensations (sensory neuropathy). Sensory neuropathy is uncommon in people with distal hereditary motor neuropathy, type II and is typically a feature of a disorder calledCharcot-Marie-Tooth disease. These two disorders have overlapping features and can also share a genetic","Curated_Disease_Description_Source__c":"ORPHA:139525","GARD_Synonym__c":"dhmn2; distal spinal muscular atrophy type 2; dsma2","Name":"Distal hereditary motor neuropathy type 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:139525"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:139525"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=777992","Source__c":"C3711384","Xref__c":"MEDGEN:777992"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3711384","Source__c":"C3711384","Xref__c":"C3711384"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111206","Source__c":"MONDO:0015352","Xref__c":"DOID:0111206"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C580044","Source__c":"MONDO:0015352","Xref__c":"C580044"},{"URL__c":"https://www.orpha.net/en/disease/detail/139525","Source__c":"C3711384; MONDO:0015352","Xref__c":"ORPHA:139525"},{"URL__c":"https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-ii","Source__c":"GARD:0016954","Xref__c":"https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-ii"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015352","Source__c":"GARD:0016954","Xref__c":"MONDO:0015352"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HSPB3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FBXO38","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HSPB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hspb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HSPB8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hspb8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["dhmn2"," distal spinal muscular atrophy type 2"," dsma2"]}