{"Name":"DCTN1-related neurodegeneration","DiseaseID__c":"GARD:0027375","id":27375,"encodedName":"dctn1-related-neurodegeneration","IsDeleted":false,"Disease_Name_Full__c":"DCTN1-related neurodegeneration","Xref_IDs__c":"CN379461; MEDGEN:1057378; MONDO:0100624; NBK47027","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"DCTN1-related neurodegeneration","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"DCTN1‑related neurodegeneration is a group of rare, inherited brain and nerve disorders caused by changes in a single gene (DCTN1) that helps nerve cells move materials they need to stay healthy. These conditions can look quite different from person to person, even within the same family, but they are connected by their shared genetic cause. Together, they include illnesses such as Perry syndrome, certain inherited motor nerve disorders, frontotemporal dementia, amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. People affected may develop combinations of movement problems (such as slowness, stiffness, or weakness), changes in behavior or personality, problems with thinking and decision‑making, breathing difficulties, and unexplained weight loss. Symptoms most often begin in adulthood and usually worsen over time. Because these conditions overlap and can evolve, they are best understood as a spectrum of related disorders rather than a single disease, and diagnosis typically involves genetic testing along with careful neurological evaluation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100624","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"DCTN1‑related neurodegeneration is a group of rare, inherited brain and nerve disorders caused by changes in a single gene (DCTN1) that helps nerve cells move materials they need to stay healthy. These conditions can look quite different from person to person, even within the same family, but they are connected by their shared genetic cause. Together, they include illnesses such as Perry syndrome, certain inherited motor nerve disorders, frontotemporal dementia, amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. People affected may develop combinations of movement problems (such as slowness, stiffness, or weakness), changes in behavior or personality, problems with thinking and decision‑making, breathing difficulties, and unexplained weight loss. Symptoms most often begin in adulthood and usually worsen over time. Because these conditions overlap and can evolve, they are best understood as a spectrum of related disorders rather than a single disease, and diagnosis typically involves genetic testing along with careful neurological evaluation.","Name":"DCTN1-related neurodegeneration","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN379461","Source__c":"CN379461","Xref__c":"CN379461"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100624","Source__c":"GARD:0027375","Xref__c":"MONDO:0100624"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1057378","Source__c":"CN379461","Xref__c":"MEDGEN:1057378"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK47027","Source__c":"Gene Review","Xref__c":"NBK47027"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DCTN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dctn1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":[""]}