{"Name":"Distal hereditary motor neuropathy type 7","DiseaseID__c":"GARD:0016960","id":16960,"encodedName":"distal-hereditary-motor-neuropathy-type-7","IsDeleted":false,"Disease_Name_Full__c":"Distal hereditary motor neuropathy type 7","Xref_IDs__c":"771081007; C4749653; DOID:0111199; MEDGEN:1662655; MONDO:0015355; ORPHA:139589","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0015355","Disease_Description__c":"A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.","GARD_Name__c":"Distal hereditary motor neuropathy type 7","GARD_Synonym__c":"dhmn7; distal spinal muscular atrophy with vocal cord paralysis","Curated_Disease_Description_Source__c":"MONDO:0015355","Curated_Disease_Description__c":"A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:139589","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015355","ORPHANET_ID__c":"ORPHA:139589","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía motora distal hereditaria tipo 7","Spanish_Description_Source__c":"ORPHA:139589","Spanish_Description__c":"Es una neuropatía periférica genética, poco frecuente y de progresión lenta, caracterizada por atrofia y debilidad distal que afecta a las extremidades superiores (con predilección por la eminencia tenar) y, posteriormente, a las inferiores. También se asocia a parálisis uni- o bilateral de las cuerdas vocales, lo que conduce a una voz ronca y dificultades respiratorias, así como debilidad facial.","Spanish_Disease_Name__c":"neuropatía motora distal hereditaria tipo 7","Spanish_GARD_Synonym__c":"atrofia muscular espinal distal con parálisis en las cuerdas vocales; dhmn7","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, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.","Curated_Disease_Description_Source__c":"MONDO:0015355","GARD_Synonym__c":"dhmn7; distal spinal muscular atrophy with vocal cord paralysis","Name":"Distal hereditary motor neuropathy type 7","estimateUsa":""}],"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":"Adult","Provided_By__c":"ORPHA:139589"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:139589"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:139589"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/139589","Source__c":"C4749653; MONDO:0015355; ORPHA:139589","Xref__c":"ORPHA:139589"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1662655","Source__c":"C4749653","Xref__c":"MEDGEN:1662655"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749653","Source__c":"C4749653","Xref__c":"C4749653"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111199","Source__c":"MONDO:0015355","Xref__c":"DOID:0111199"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771081007","Source__c":"C4749653","Xref__c":"771081007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015355","Source__c":"GARD:0016960","Xref__c":"MONDO:0015355"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC5A7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DCTN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dctn1","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":["dhmn7"," distal spinal muscular atrophy with vocal cord paralysis"]}