{"Name":"Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus","DiseaseID__c":"GARD:0002417","id":2417,"encodedName":"muscular-atrophy-ataxia-retinitis-pigmentosa-and-diabetes-mellitus","IsDeleted":false,"Disease_Name_Full__c":"Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus","Xref_IDs__c":"237611007; C0342281; MEDGEN:137966; MONDO:0008023; OMIM:158500; ORPHA:2579","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008023","Disease_Description__c":"A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.","GARD_Name__c":"Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus","GARD_Synonym__c":"furukawa takagi nakao syndrome; furukawa-takagi-nakao syndrome; muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome","Curated_Disease_Description_Source__c":"MONDO:0008023","Curated_Disease_Description__c":"A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2579","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008023","ORPHANET_ID__c":"ORPHA:2579","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de atrofia muscular-ataxia-retinosis pigmentaria-diabetes mellitus","Spanish_Description_Source__c":"ORPHA:2579","Spanish_Description__c":"Es una ataxia hereditaria poco frecuente caracterizada por atrofia muscular neurógena asociada a signos de ataxia cerebelosa, hipoestesia, degeneración retiniana y diabetes mellitus. La enfermedad debuta en la adolescencia y el curso es lentamente progresivo. No ha habido más descripciones en la literatura desde 1983.","Spanish_Disease_Name__c":"síndrome de atrofia muscular-ataxia-retinosis pigmentaria-diabetes mellitus","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":"A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.","Curated_Disease_Description_Source__c":"MONDO:0008023","GARD_Synonym__c":"furukawa takagi nakao syndrome; furukawa-takagi-nakao syndrome; muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome","Name":"Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Retina International","Website__c":"https://retina-international.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2579"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342281","Source__c":"C0342281","Xref__c":"C0342281"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=137966","Source__c":"C0342281","Xref__c":"MEDGEN:137966"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237611007","Source__c":"C0342281; MONDO:0008023","Xref__c":"237611007"},{"URL__c":"https://www.orpha.net/en/disease/detail/2579","Source__c":"C0342281; MONDO:0008023","Xref__c":"ORPHA:2579"},{"URL__c":"https://www.omim.org/entry/158500","Source__c":"C0342281; MONDO:0008023; ORPHA:2579","Xref__c":"OMIM:158500"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008023","Source__c":"GARD:0002417","Xref__c":"MONDO:0008023"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2579","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005978","HPO_Synonym__c":"Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes","HPO_Name__c":"Type II diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2579","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2579","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2579","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal","Ataxia"]},"synonyms":["furukawa takagi nakao syndrome"," furukawa-takagi-nakao syndrome"," muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome"]}