{"Name":"Cayman type cerebellar ataxia","DiseaseID__c":"GARD:0016836","id":16836,"encodedName":"cayman-type-cerebellar-ataxia","IsDeleted":false,"Disease_Name_Full__c":"Cayman type cerebellar ataxia","Xref_IDs__c":"717332007; C1832585; C563363; DOID:0060694; MEDGEN:331319; MONDO:0011025; OMIM:601238; ORPHA:94122","USA_Estimate__c":null,"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":null,"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":2,"Description_Source__c":"MONDO:0011025","Disease_Description__c":"A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.","GARD_Name__c":"Cayman type cerebellar ataxia","GARD_Synonym__c":"ataxia, cerebellar, cayman type; cayman ataxia; cayman cerebellar ataxia; cerebellar ataxia cayman type; cerebellar ataxia, cayman type","Curated_Disease_Description_Source__c":"MONDO:0011025","Curated_Disease_Description__c":"A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:94122","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011025","ORPHANET_ID__c":"ORPHA:94122","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia cerebelosa tipo cayman","Spanish_Description_Source__c":"ORPHA:94122","Spanish_Description__c":"Es un trastorno de ataxia cerebelosa congénita, autosómica recesiva, caracterizada por hipotonía desde el nacimiento, marcado retraso psicomotor y destacada disfunción cerebelosa (que se manifiesta con nistagmo, temblor intencional, disartria, marcha atáxica y ataxia troncal), descrita en una población aislada de la Isla de Gran Caimán. La hipoplasia cerebelosa, observada en la tomografía computarizada, puede estar asociada.","Spanish_Disease_Name__c":"ataxia cerebelosa tipo cayman","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, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.","Curated_Disease_Description_Source__c":"MONDO:0011025","GARD_Synonym__c":"ataxia, cerebellar, cayman type; cayman ataxia; cayman cerebellar ataxia; cerebellar ataxia cayman type; cerebellar ataxia, cayman type","Name":"Cayman type cerebellar ataxia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.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":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:94122"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:94122"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/94122","Source__c":"C1832585; MONDO:0011025; ORPHA:94122","Xref__c":"ORPHA:94122"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832585","Source__c":"C1832585","Xref__c":"C1832585"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331319","Source__c":"C1832585","Xref__c":"MEDGEN:331319"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563363","Source__c":"MONDO:0011025","Xref__c":"C563363"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060694","Source__c":"MONDO:0011025","Xref__c":"DOID:0060694"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717332007","Source__c":"C1832585; MONDO:0011025","Xref__c":"717332007"},{"URL__c":"https://www.omim.org/entry/601238","Source__c":"C1832585; MONDO:0011025; ORPHA:94122","Xref__c":"OMIM:601238"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011025","Source__c":"GARD:0016836","Xref__c":"MONDO:0011025"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATCAY","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:94122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002078","HPO_Synonym__c":"Instability or lack of coordination of central trunk muscles; Trunk ataxia","HPO_Name__c":"Truncal ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94122","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000479","HPO_Synonym__c":"Abnormal retina; Abnormality of the retina; Anomaly of the retina; Retina issue","HPO_Name__c":"Abnormal retinal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002080","HPO_Name__c":"Intention tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94122","HPO_Frequency__c":"Frequent (30-79%)","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:94122","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002470","HPO_Name__c":"Nonprogressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94122","HPO_Frequency__c":"Frequent (30-79%)","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:94122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002136","HPO_Synonym__c":"Broad based gait; Wide based gait; Wide based walk; Wide-based gait","HPO_Name__c":"Broad-based gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Neurodevelopmental disabilities","Pediatrics"],"Account":["Ataxia"]},"synonyms":["ataxia, cerebellar, cayman type"," cayman ataxia"," cayman cerebellar ataxia"," cerebellar ataxia cayman type"," cerebellar ataxia, cayman type"]}