{"Name":"Azorean disease","DiseaseID__c":"GARD:0006801","id":6801,"encodedName":"azorean-disease","IsDeleted":false,"Disease_Name_Full__c":"Azorean disease","Xref_IDs__c":"91952008; C0024408; C84830; D017827; DOID:1440; MEDGEN:9841; MONDO:0007182; OMIM:109150; ORPHA:98757","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007182","Disease_Description__c":"Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.","GARD_Name__c":"Azorean disease","GARD_Synonym__c":"autosomal dominant striatonigral degeneration; azorean disease of the nervous system; azorean neurologic disease; machado disease; machado joseph disease; machado-joseph disease; mjd; mjd - machado-joseph disease; nigro-spino-dentatal degeneration with nuclear ophthalmoplegia; nigrospinodentatal degeneration; portuguese-azorean disease; sca3; spinocerebellar ataxia 3; spinocerebellar ataxia type 3; spinocerebellar atrophy iii; spinocerebellar atrophy type 3; spinopontine atrophy","Curated_Disease_Description_Source__c":"GARD:0006801","Curated_Disease_Description__c":"Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day. Over time, individuals with SCA3 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle cramps, muscle twitches (fasciculations), and swallowing difficulties. Individuals with SCA3 may have problems with memory, planning, and problem solving. Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA3 eventually require wheelchair assistance. They usually survive 10 to 20 years after symptoms first appear.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child and as an Adult","SourceID__c":"ORPHA:98757","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007182","ORPHANET_ID__c":"ORPHA:98757","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa tipo 3","Spanish_Description_Source__c":"ORPHA:98757","Spanish_Description__c":"La ataxia espinocerebelosa tipo 3 (AEC3), también conocida como enfermedad de Machado-Joseph (MJ), es el subtipo más común de ataxia cerebelosa autosómica dominante tipo 1 (ACAD tipo 1; ver este término), un trastorno neurodegenerativo, y se caracteriza por ataxia, oftalmoplejía externa progresiva y otras manifestaciones neurológicas.","Spanish_Disease_Name__c":"ataxia espinocerebelosa tipo 3","Spanish_GARD_Synonym__c":"degeneración nigroespinodental con oftalmoplejía nuclear; emj; enfermedad de las azores del sistema nervioso; enfermedad de machado; enfermedad de machado-joseph; sca3","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":"Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day. Over time, individuals with SCA3 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle cramps, muscle twitches (fasciculations), and swallowing difficulties. Individuals with SCA3 may have problems with memory, planning, and problem solving. Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA3 eventually require wheelchair assistance. They usually survive 10 to 20 years after symptoms first appear.","Curated_Disease_Description_Source__c":"GARD:0006801","GARD_Synonym__c":"autosomal dominant striatonigral degeneration; azorean disease of the nervous system; azorean neurologic disease; machado disease; machado joseph disease; machado-joseph disease; mjd; mjd - machado-joseph disease; nigro-spino-dentatal degeneration with nuclear ophthalmoplegia; nigrospinodentatal degeneration; portuguese-azorean disease; sca3; spinocerebellar ataxia 3; spinocerebellar ataxia type 3; spinocerebellar atrophy iii; spinocerebellar atrophy type 3; spinopontine atrophy","Name":"Azorean disease","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure Rare Disease","Website__c":"https://www.cureraredisease.org"},{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Ataxia UK","Website__c":"https://www.ataxia.org.uk/"}],"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":"Psychiatry","Tag_Category__c":"Specialist"},{"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":"Adult","Provided_By__c":"ORPHA:98757"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98757"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0024408"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1196","Source__c":"Gene Review","Xref__c":"NBK1196"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1138","Xref__c":"NBK1138"},{"URL__c":"https://www.omim.org/entry/109150","Source__c":"C0024408; MONDO:0007182; ORPHA:98757","Xref__c":"OMIM:109150"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9841","Source__c":"C0024408","Xref__c":"MEDGEN:9841"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1440","Source__c":"MONDO:0007182","Xref__c":"DOID:1440"},{"URL__c":"https://www.orpha.net/en/disease/detail/98757","Source__c":"C0024408; MONDO:0007182; ORPHA:98757","Xref__c":"ORPHA:98757"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0024408","Source__c":"C0024408","Xref__c":"C0024408"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84830","Source__c":"C0024408; MONDO:0007182","Xref__c":"C84830"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=91952008","Source__c":"C0024408; MONDO:0007182","Xref__c":"91952008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C017827","Source__c":"C0024408; MONDO:0007182","Xref__c":"D017827"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007182","Source__c":"GARD:0006801","Xref__c":"MONDO:0007182"},{"URL__c":"https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-3","Source__c":"GARD:0006801","Xref__c":"https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-3"},{"URL__c":"https://www.ataxia.org/sca3-fda-patient-led-listening-session-summary/"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATXN3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atxn3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of temperature homeostasis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004370","HPO_Synonym__c":"Abnormality of temperature regulation; Impaired temperature control; Impaired temperature regulation; Inability to control temperature; Inability to regulate temperature; Poor control of temperature; Poor regulation of temperature; Poor temperature control; Poor temperature regulation; Unable to control temperature","HPO_Name__c":"Abnormality of temperature regulation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002312","HPO_Synonym__c":"Clumsiness","HPO_Name__c":"Clumsiness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002073","HPO_Synonym__c":"Cerebellar ataxia, progressive; Progressive ataxia","HPO_Name__c":"Progressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A loss of the ability to move the vocal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001605","HPO_Synonym__c":"Inability to move vocal cords; Laryngeal paralysis","HPO_Name__c":"Vocal cord paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the functioning of the vestibular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001751","HPO_Synonym__c":"Impaired vestibular function; Interictal vestibular dysfunction; Vestibular function defect","HPO_Name__c":"Abnormal vestibular function","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002071","HPO_Synonym__c":"Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs","HPO_Name__c":"Abnormality of extrapyramidal motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000590","HPO_Synonym__c":"External ophthalmoplegia, progressive","HPO_Name__c":"Progressive external ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Pediatrics"],"Account":["Ataxia"]},"synonyms":["autosomal dominant striatonigral degeneration"," azorean disease of the nervous system"," azorean neurologic disease"," machado disease"," machado joseph disease"," machado-joseph disease"," mjd"," mjd - machado-joseph disease"," nigro-spino-dentatal degeneration with nuclear ophthalmoplegia"," nigrospinodentatal degeneration"," portuguese-azorean disease"," sca3"," spinocerebellar ataxia 3"," spinocerebellar ataxia type 3"," spinocerebellar atrophy iii"," spinocerebellar atrophy type 3"," spinopontine atrophy"]}