{"Name":"Spastic ataxia-corneal dystrophy syndrome","DiseaseID__c":"GARD:0003795","id":3795,"encodedName":"spastic-ataxia-corneal-dystrophy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spastic ataxia-corneal dystrophy syndrome","Xref_IDs__c":"715465001; C1849085; C536989; MEDGEN:336493; MONDO:0010064; OMIM:271320; ORPHA:2572","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010064","Disease_Description__c":"A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.","GARD_Name__c":"Spastic ataxia-corneal dystrophy syndrome","GARD_Synonym__c":"bedouin spastic ataxia syndrome; mousa-al din-al nassar syndrome; spastic ataxia and corneal dystrophy; spastic ataxia-ocular anomalies syndrome; spinocerebellar degeneration co-occurrent with macular corneal dystrophy; spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia","Curated_Disease_Description_Source__c":"MONDO:0010064","Curated_Disease_Description__c":"A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2572","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010064","ORPHANET_ID__c":"ORPHA:2572","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ataxia espástica-distrofia corneal","Spanish_Description_Source__c":"ORPHA:2572","Spanish_Description__c":"El síndrome de ataxia espástica - distrofia corneal es un trastorno de ataxia hereditaria poco frecuente caracterizada por la presencia de ataxia espástica en asociación con cataratas congénitas bilaterales, distrofia macular corneal (estromal con acúmulo de material mucoide) y miopía no axial. Los afectados presentan un desarrollo intelectual normal. Desde 1986 no se han descrito más casos en la literatura.","Spanish_Disease_Name__c":"síndrome de ataxia espástica-distrofia corneal","Spanish_GARD_Synonym__c":"síndrome de ataxia espástica beduina; síndrome de mousa al din al nassar","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 disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.","Curated_Disease_Description_Source__c":"MONDO:0010064","GARD_Synonym__c":"bedouin spastic ataxia syndrome; mousa-al din-al nassar syndrome; spastic ataxia and corneal dystrophy; spastic ataxia-ocular anomalies syndrome; spinocerebellar degeneration co-occurrent with macular corneal dystrophy; spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia","Name":"Spastic ataxia-corneal dystrophy syndrome","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":"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2572"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2572","Source__c":"C1849085; MONDO:0010064; ORPHA:2572","Xref__c":"ORPHA:2572"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336493","Source__c":"C1849085","Xref__c":"MEDGEN:336493"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536989","Source__c":"MONDO:0010064","Xref__c":"C536989"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715465001","Source__c":"C1849085; MONDO:0010064","Xref__c":"715465001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849085","Source__c":"C1849085","Xref__c":"C1849085"},{"URL__c":"https://www.omim.org/entry/271320","Source__c":"C1849085; MONDO:0010064; ORPHA:2572","Xref__c":"OMIM:271320"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010064","Source__c":"GARD:0003795","Xref__c":"MONDO:0010064"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2572","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2572","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2572","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002503","HPO_Synonym__c":"Degeneration of the spinocerebellar tracts; Spinocerebellar degeneration","HPO_Name__c":"Spinocerebellar tract degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2572","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:2572","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002497","HPO_Name__c":"Spastic ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2572","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2572","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:2572","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2572","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004313","HPO_Synonym__c":"Decreased antibody level in blood; Decreased circulating antibody level; Decreased immunoglobulin level; Decreased serum immunoglobulin; Hypogammaglobulinemia; Immunoglobulin deficiency; Reduced immunoglobulin levels","HPO_Name__c":"Decreased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2572","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007360","HPO_Synonym__c":"Absent/small cerebellum; Absent/underdeveloped cerebellum; Atrophy/Degeneration affecting the cerebellum; Atrophy/Hypoplasia of the cerebellum; Cerebellar hypoplasia/atrophy","HPO_Name__c":"Aplasia/Hypoplasia of the cerebellum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2572","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2572","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Anterior segment of Eye","Pediatrics"],"Account":["Ataxia"]},"synonyms":["bedouin spastic ataxia syndrome"," mousa-al din-al nassar syndrome"," spastic ataxia and corneal dystrophy"," spastic ataxia-ocular anomalies syndrome"," spinocerebellar degeneration co-occurrent with macular corneal dystrophy"," spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia"]}