{"Name":"Infantile onset spinocerebellar ataxia","DiseaseID__c":"GARD:0004062","id":4062,"encodedName":"infantile-onset-spinocerebellar-ataxia","IsDeleted":false,"Disease_Name_Full__c":"Infantile onset spinocerebellar ataxia","Xref_IDs__c":"724227000; C1849096; C535523; DOID:0080126; MEDGEN:338613; MONDO:0010060; OMIM:271245; ORPHA:1186","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010060","Disease_Description__c":"Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.","GARD_Name__c":"Infantile onset spinocerebellar ataxia","GARD_Synonym__c":"autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in twnk; infantile-onset spinocerebellar ataxia; iosca; mitochondrial dna depletion syndrome 7 (hepatocerebral type); mitochondrial dna depletion syndrome type 7; mtdps7; ohaha syndrome; ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome; ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis; ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome; spinocerebellar ataxia, infantile, with sensory neuropathy; twnk autosomal recessive degenerative and progressive cerebellar ataxia","Curated_Disease_Description_Source__c":"MONDO:0010060","Curated_Disease_Description__c":"Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the limbs (athetosis); and decreased reflexes. By their teenage years affected individuals require wheelchair assistance. People with IOSCA often develop problems with the autonomic nervous system, which controls involuntary body functions. As a result, they may experience excessive sweating, difficulty controlling urination, and severe constipation. IOSCA also leads to vision and hearing problems that begin by about age 7. Children with this disorder develop weakness in the muscles that control eye movement (ophthalmoplegia). In their teenage years they experience degeneration of the nerves that carry information from the eyes to the brain (optic atrophy), which can result in vision loss. Hearing loss caused by nerve damage (sensorineural hearing loss) typically occurs during childhood and progresses to profound deafness. Individuals with IOSCA may have recurrent seizures (epilepsy). These seizures can lead to severe brain dysfunction (encephalopathy). Most people with IOSCA survive into adulthood. However, a few individuals with IOSCA have an especially severe form of the disorder involving liver damage and encephalopathy that develops during early childhood. These children do not generally live past age 5.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:1186","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010060","ORPHANET_ID__c":"ORPHA:1186","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa de inicio en el lactante","Spanish_Description_Source__c":"ORPHA:1186","Spanish_Description__c":"La ataxia espinocerebelosa infantil es una enfermedad neurológica hereditaria caracterizada por una alteración temprana y grave del sistema nervioso periférico y central. Se ha descrito sólo en familias finlandesas.","Spanish_Disease_Name__c":"ataxia espinocerebelosa de inicio en el lactante","Spanish_GARD_Synonym__c":"iosca; oftalmoplejía-ataxia-hipoacusia; síndrome de ohaha","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":"Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the limbs (athetosis); and decreased reflexes. By their teenage years affected individuals require wheelchair assistance. People with IOSCA often develop problems with the autonomic nervous system, which controls involuntary body functions. As a result, they may experience excessive sweating, difficulty controlling urination, and severe constipation. IOSCA also leads to vision and hearing problems that begin by about age 7. Children with this disorder develop weakness in the muscles that control eye movement (ophthalmoplegia). In their teenage years they experience degeneration of the nerves that carry information from the eyes to the brain (optic atrophy), which can result in vision loss. Hearing loss caused by nerve damage (sensorineural hearing loss) typically occurs during childhood and progresses to profound deafness. Individuals with IOSCA may have recurrent seizures (epilepsy). These seizures can lead to severe brain dysfunction (encephalopathy). Most people with IOSCA survive into adulthood. However, a few individuals with IOSCA have an especially severe form of the disorder involving liver damage and encephalopathy that develops during early childhood. These children do not generally live past age 5.","Curated_Disease_Description_Source__c":"MONDO:0010060","GARD_Synonym__c":"autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in twnk; infantile-onset spinocerebellar ataxia; iosca; mitochondrial dna depletion syndrome 7 (hepatocerebral type); mitochondrial dna depletion syndrome type 7; mtdps7; ohaha syndrome; ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome; ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis; ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome; spinocerebellar ataxia, infantile, with sensory neuropathy; twnk autosomal recessive degenerative and progressive cerebellar ataxia","Name":"Infantile onset spinocerebellar ataxia","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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"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":"Infancy","Provided_By__c":"ORPHA:1186"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1849096"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004062","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK487393","Source__c":"Gene Review","Xref__c":"NBK487393"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK3795","Xref__c":"NBK3795"},{"URL__c":"https://www.omim.org/entry/271245","Source__c":"C1849096; MONDO:0010060; ORPHA:1186","Xref__c":"OMIM:271245"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849096","Source__c":"C1849096","Xref__c":"C1849096"},{"URL__c":"https://www.orpha.net/en/disease/detail/1186","Source__c":"C1849096; MONDO:0010060; ORPHA:1186","Xref__c":"ORPHA:1186"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338613","Source__c":"C1849096","Xref__c":"MEDGEN:338613"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724227000","Source__c":"C1849096; MONDO:0010060","Xref__c":"724227000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080126","Source__c":"MONDO:0010060","Xref__c":"DOID:0080126"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535523","Source__c":"MONDO:0010060","Xref__c":"C535523"},{"URL__c":"https://medlineplus.gov/genetics/condition/infantile-onset-spinocerebellar-ataxia","Source__c":"GARD:0004062","Xref__c":"https://medlineplus.gov/genetics/condition/infantile-onset-spinocerebellar-ataxia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010060","Source__c":"GARD:0004062","Xref__c":"MONDO:0010060"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TWNK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/twnk","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1186","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1186","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1186","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Paralysis of one or more extraocular muscles that are responsible for eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000602","HPO_Synonym__c":"Eye muscle paralysis; Paralysis of extraocular eye movement","HPO_Name__c":"Ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1186","HPO_Frequency__c":"Very frequent (80-99%)","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:1186","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1186","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:1186","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002270","HPO_Name__c":"Abnormality of the autonomic nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Gastroenterology","Psychiatry","Pediatrics"],"Account":["Mitochondrial","Ataxia"]},"synonyms":["autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in twnk"," infantile-onset spinocerebellar ataxia"," iosca"," mitochondrial dna depletion syndrome 7 (hepatocerebral type)"," mitochondrial dna depletion syndrome type 7"," mtdps7"," ohaha syndrome"," ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome"," ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis"," ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome"," spinocerebellar ataxia, infantile, with sensory neuropathy"," twnk autosomal recessive degenerative and progressive cerebellar ataxia"]}