{"Name":"Autosomal recessive spinocerebellar ataxia 14","DiseaseID__c":"GARD:0017516","id":17516,"encodedName":"autosomal-recessive-spinocerebellar-ataxia-14","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive spinocerebellar ataxia 14","Xref_IDs__c":"763351003; C4706415; DOID:0080058; MEDGEN:1636182; MONDO:0014159; OMIM:615386; ORPHA:352403","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:0014159","Disease_Description__c":"Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to <i>SPTBN2</i> mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).","GARD_Name__c":"Autosomal recessive spinocerebellar ataxia 14","GARD_Synonym__c":"ataxie spinocérébelleuse à début infantile avec retard psychomoteur; autosomal recessive cerebellar ataxia caused by mutation in sptbn2; autosomal recessive cerebellar ataxia-cognitive defect syndrome; autosomal recessive cerebellar ataxia, cognitive defect syndrome; autosomal recessive spinocerebellar ataxia type 14; cerebellar ataxia, autosomal recessive, spectrin-associated, 1; infantile-onset spinocerebellar ataxia-psychomotor delay syndrome; scar14; sparca; sparca1; spectrin-associated autosomal recessive cerebellar ataxia; spectrin-associated autosomal recessive cerebellar ataxia type 1; spinocerebellar ataxia, autosomal recessive type 14; sptbn2 autosomal recessive cerebellar ataxia","Curated_Disease_Description_Source__c":"MONDO:0014159","Curated_Disease_Description__c":"Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:352403","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014159","ORPHANET_ID__c":"ORPHA:352403","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia cerebelosa autosómica recesiva asociada a la espectrina","Spanish_Description_Source__c":"ORPHA:352403","Spanish_Description__c":"La ataxia cerebelosa autosómica recesiva asociada a espectrina es una enfermedad neurológica genética poco frecuente, debida a mutaciones en <i> SPTBN2 </i>, caracterizada por un retraso global del desarrollo en el periodo de lactancia, seguida de ataxia de la marcha de inicio en la infancia con dismetria de extremidades y disdiadococinesia, discapacidad intelectual de leve a grave, desarrollo de atrofia cerebelosa y movimientos oculares anómalos (que incluyen estrabismo convergente, sacadas hipométricas, movimientos de seguimiento con intrusiones sacádicas y rango de movimiento incompleto).","Spanish_Disease_Name__c":"ataxia cerebelosa autosómica recesiva asociada a la espectrina","Spanish_GARD_Synonym__c":"ataxia cerebelosa autosómica recesiva asociada a la espectrina tipo 1; ataxia espinocerebelosa autosómica recesiva tipo 14; scar14; sparca; sparca1; síndrome de inicio en la lactancia de ataxia espinocerebelosa-retraso psicomotor","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":"Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).","Curated_Disease_Description_Source__c":"MONDO:0014159","GARD_Synonym__c":"ataxie spinocérébelleuse à début infantile avec retard psychomoteur; autosomal recessive cerebellar ataxia caused by mutation in sptbn2; autosomal recessive cerebellar ataxia-cognitive defect syndrome; autosomal recessive cerebellar ataxia, cognitive defect syndrome; autosomal recessive spinocerebellar ataxia type 14; cerebellar ataxia, autosomal recessive, spectrin-associated, 1; infantile-onset spinocerebellar ataxia-psychomotor delay syndrome; scar14; sparca; sparca1; spectrin-associated autosomal recessive cerebellar ataxia; spectrin-associated autosomal recessive cerebellar ataxia type 1; spinocerebellar ataxia, autosomal recessive type 14; sptbn2 autosomal recessive cerebellar ataxia","Name":"Autosomal recessive spinocerebellar ataxia 14","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:352403"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706415","Source__c":"C4706415","Xref__c":"C4706415"},{"URL__c":"https://www.orpha.net/en/disease/detail/352403","Source__c":"C4706415; MONDO:0014159; ORPHA:352403","Xref__c":"ORPHA:352403"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080058","Source__c":"MONDO:0014159","Xref__c":"DOID:0080058"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1636182","Source__c":"C4706415","Xref__c":"MEDGEN:1636182"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763351003","Source__c":"C4706415; MONDO:0014159","Xref__c":"763351003"},{"URL__c":"https://www.omim.org/entry/615386","Source__c":"C4706415; MONDO:0014159; ORPHA:352403","Xref__c":"OMIM:615386"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014159","Source__c":"GARD:0017516","Xref__c":"MONDO:0014159"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SPTBN2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:352403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352403","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001310","HPO_Synonym__c":"Lack of coordination of movement","HPO_Name__c":"Dysmetria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352403","HPO_Frequency__c":"Frequent (30-79%)","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:352403","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:352403","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352403","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of gait ataxia displaying progression of clinical severity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007240","HPO_Synonym__c":"Gait ataxia, progressive","HPO_Name__c":"Progressive gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352403","HPO_Frequency__c":"Frequent (30-79%)","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:352403","HPO_Frequency__c":"Occasional (5-29%)","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:352403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008003","HPO_Synonym__c":"Jerky smooth pursuit","HPO_Name__c":"Jerky ocular pursuit movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352403","HPO_Frequency__c":"Occasional (5-29%)","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:352403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352403","HPO_Frequency__c":"Occasional (5-29%)","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:352403","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002075","HPO_Synonym__c":"Difficulty performing quick and alternating movements; Dysdiadochokinesia","HPO_Name__c":"Dysdiadochokinesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352403","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal coordination of muscles involved in speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001350","HPO_Synonym__c":"Slurred speech","HPO_Name__c":"Slurred speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352403","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:352403","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352403","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:352403","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000641","HPO_Synonym__c":"Dysmetric eye movements; Dysmetric eye saccades; Uncoordinated eye movement","HPO_Name__c":"Dysmetric saccades","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352403","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Neurodevelopmental disabilities","Pediatrics"],"Account":["Ataxia"]},"synonyms":["ataxie spinocérébelleuse à début infantile avec retard psychomoteur"," autosomal recessive cerebellar ataxia caused by mutation in sptbn2"," autosomal recessive cerebellar ataxia-cognitive defect syndrome"," autosomal recessive cerebellar ataxia, cognitive defect syndrome"," autosomal recessive spinocerebellar ataxia type 14"," cerebellar ataxia, autosomal recessive, spectrin-associated, 1"," infantile-onset spinocerebellar ataxia-psychomotor delay syndrome"," scar14"," sparca"," sparca1"," spectrin-associated autosomal recessive cerebellar ataxia"," spectrin-associated autosomal recessive cerebellar ataxia type 1"," spinocerebellar ataxia, autosomal recessive type 14"," sptbn2 autosomal recessive cerebellar ataxia"]}