{"Name":"Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome","DiseaseID__c":"GARD:0004952","id":4952,"encodedName":"autosomal-recessive-cerebellar-ataxia-saccadic-intrusion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome","Xref_IDs__c":"C1846492; C537310; DOID:0111611; MEDGEN:335442; MONDO:0011811; OMIM:607317; ORPHA:95434","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Description_Source__c":"MONDO:0011811","Disease_Description__c":"A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.","GARD_Name__c":"Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome","GARD_Synonym__c":"autosomal recessive cerebellar ataxia-movement disorder syndrome; scar4; scasi; spinocerebellar ataxia 24; spinocerebellar ataxia with saccadic intrusions","Curated_Disease_Description_Source__c":"MONDO:0011811","Curated_Disease_Description__c":"A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:95434","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011811","ORPHANET_ID__c":"ORPHA:95434","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ataxia cerebelosa-trastorno del movimiento autosómico recesivo","Spanish_Description_Source__c":"ORPHA:95434","Spanish_Description__c":"Es una ataxia hereditaria poco frecuente caracterizada por ataxia cerebelosa progresiva asociada a alteración de la fijación visual por intrusiones sacádicas (sácadas horizontales hipermétricas con oscilaciones macrosacádicas y aumento de la velocidad de las sacadas mayores). Se presenta con ataxia progresiva de la marcha, truncal y de las extremidades junto con signos piramidales (hiperreflexia y signo de Babinski), sacudidas mioclónicas, fasciculaciones, disartria cerebelosa, neuropatía axonal sensitivomotora con alteración de la sensibilidad posicional, vibratoria, térmica y dolorosa, pies cavos, e intrusiones sacádicas con sácadas horizontales hipermétricas características, oscilaciones macrosacádicas y aumento de la velocidad de las sacadas mayores, sin otras alteraciones del movimiento ocular.","Spanish_Disease_Name__c":"síndrome de ataxia cerebelosa-trastorno del movimiento autosómico recesivo","Spanish_GARD_Synonym__c":"scar4; scasi","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 a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.","Curated_Disease_Description_Source__c":"MONDO:0011811","GARD_Synonym__c":"autosomal recessive cerebellar ataxia-movement disorder syndrome; scar4; scasi; spinocerebellar ataxia 24; spinocerebellar ataxia with saccadic intrusions","Name":"Autosomal recessive cerebellar ataxia-saccadic intrusion 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":"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":"Childhood","Provided_By__c":"ORPHA:95434"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:95434"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:95434"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:95434"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1846492"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004952","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK537720","Source__c":"Gene Review","Xref__c":"NBK537720"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846492","Source__c":"C1846492","Xref__c":"C1846492"},{"URL__c":"https://www.orpha.net/en/disease/detail/95434","Source__c":"C1846492; MONDO:0011811; ORPHA:95434","Xref__c":"ORPHA:95434"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111611","Source__c":"MONDO:0011811","Xref__c":"DOID:0111611"},{"URL__c":"https://www.omim.org/entry/607317","Source__c":"C1846492; MONDO:0011811; ORPHA:95434","Xref__c":"OMIM:607317"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335442","Source__c":"C1846492","Xref__c":"MEDGEN:335442"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537310","Source__c":"MONDO:0011811","Xref__c":"C537310"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011811","Source__c":"GARD:0004952","Xref__c":"MONDO:0011811"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"VPS13D","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Very frequent (80-99%)","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:95434","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010522","HPO_Synonym__c":"Reading disability","HPO_Name__c":"Dyslexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the lower motor neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002366","HPO_Synonym__c":"Lower motor neuron disease; Lower motor neuron manifestations; Lower motor neuron signs","HPO_Name__c":"Abnormal lower motor neuron morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002380","HPO_Synonym__c":"Fasciculation; Muscle fasciculation; Muscle twitch","HPO_Name__c":"Fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025404","HPO_Name__c":"Abnormal visual fixation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","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:95434","HPO_Frequency__c":"Very frequent (80-99%)","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:95434","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in voluntary or involuntary eye movements or their control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000496","HPO_Synonym__c":"Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities","HPO_Name__c":"Abnormality of eye movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000570","HPO_Synonym__c":"Abnormality of saccadic eye movements","HPO_Name__c":"Abnormal saccadic eye movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of ataxia that affects movements of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002070","HPO_Synonym__c":"Appendicular ataxia","HPO_Name__c":"Limb ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","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:95434","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A saccade that overshoots the target with the dynamic saccade.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007338","HPO_Name__c":"Hypermetric saccades","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A loss or impairment of the sensation of the relative position of parts of the body and joint position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010831","HPO_Synonym__c":"Abnormality of proprioception","HPO_Name__c":"Impaired proprioception","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002493","HPO_Synonym__c":"Corticospinal tract dysfunction; Pyramidal tract dysfunction","HPO_Name__c":"Upper motor neuron dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95434","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Pediatrics"],"Account":["Ataxia"]},"synonyms":["autosomal recessive cerebellar ataxia-movement disorder syndrome"," scar4"," scasi"," spinocerebellar ataxia 24"," spinocerebellar ataxia with saccadic intrusions"]}