{"Name":"Spinocerebellar ataxia type 38","DiseaseID__c":"GARD:0012369","id":12369,"encodedName":"spinocerebellar-ataxia-type-38","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia type 38","Xref_IDs__c":"734021001; C4518337; DOID:0050985; MEDGEN:1379865; MONDO:0014417; NBK543515; OMIM:615957; ORPHA:423296","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014417","Disease_Description__c":"Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.","GARD_Name__c":"Spinocerebellar ataxia type 38","GARD_Synonym__c":"sca38","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Spinocerebellar ataxia type 38 (SCA38) is a genetic disease that usually starts to affect people in adulthood. It is passed down in an autosomal dominant inheritance pattern. This means only one copy of the mutated gene, either from the mother or the father, is needed for a person to develop the disease. SCA38 is characterized by impairment of the abdominal and back muscles. This makes it difficult to maintain an upright position (truncal ataxia). It also causes problems with walking and maintaining balance (gait disturbance). SCA38 causes involuntary eye movements that occur when looking in a certain direction. This is known as gaze-evoked nystagmus. Over time, people may also develop difficulty speaking clearly (dysarthria). They may develop problems with coordination and balance in the arms and legs (limb ataxia). Over time, symptoms may include double vision (diplopia), and damage to the nerves that control muscle movement and sensation (axonal neuropathy).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:423296","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014417","ORPHANET_ID__c":"ORPHA:423296","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa tipo 38","Spanish_Description_Source__c":"ORPHA:423296","Spanish_Description__c":"La ataxia espinocerebelosa tipo 38 (SCA38) es un subtipo de ataxia cerebelosa autosómica dominante tipo 3 caracterizado por la aparición en adultos (edad media: 40 años) de ataxia truncal, trastorno de la marcha y nistagmo evocado por la mirada. La enfermedad es lentamente progresiva, y continúa con disartria y ataxia de las extremidades. Otras manifestaciones incluyen la diplopía y la neuropatía axonal.","Spanish_Disease_Name__c":"ataxia espinocerebelosa tipo 38","Spanish_GARD_Synonym__c":"sca38","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":"Spinocerebellar ataxia type 38 (SCA38) is a genetic disease that usually starts to affect people in adulthood. It is passed down in an autosomal dominant inheritance pattern. This means only one copy of the mutated gene, either from the mother or the father, is needed for a person to develop the disease. SCA38 is characterized by impairment of the abdominal and back muscles. This makes it difficult to maintain an upright position (truncal ataxia). It also causes problems with walking and maintaining balance (gait disturbance). SCA38 causes involuntary eye movements that occur when looking in a certain direction. This is known as gaze-evoked nystagmus. Over time, people may also develop difficulty speaking clearly (dysarthria). They may develop problems with coordination and balance in the arms and legs (limb ataxia). Over time, symptoms may include double vision (diplopia), and damage to the nerves that control muscle movement and sensation (axonal neuropathy).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"sca38","Name":"Spinocerebellar ataxia type 38","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":"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":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:423296"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C4518337"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK543515","Source__c":"Gene Review","Xref__c":"NBK543515"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518337","Source__c":"C4518337","Xref__c":"C4518337"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1379865","Source__c":"C4518337","Xref__c":"MEDGEN:1379865"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050985","Source__c":"MONDO:0014417","Xref__c":"DOID:0050985"},{"URL__c":"https://www.orpha.net/en/disease/detail/423296","Source__c":"C4518337; MONDO:0014417; ORPHA:423296","Xref__c":"ORPHA:423296"},{"URL__c":"https://www.omim.org/entry/615957","Source__c":"C4518337; MONDO:0014417; ORPHA:423296","Xref__c":"OMIM:615957"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=734021001","Source__c":"C4518337; MONDO:0014417","Xref__c":"734021001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014417","Source__c":"GARD:0012369","Xref__c":"MONDO:0014417"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ELOVL5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:423296","HPO_Frequency__c":"Very frequent (80-99%)","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:423296","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423296","HPO_Frequency__c":"Very frequent (80-99%)","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:423296","HPO_Frequency__c":"Frequent (30-79%)","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:423296","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:423296","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423296","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:423296","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423296","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally slow velocity of the saccadic eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000514","HPO_Synonym__c":"Slow eye movements; Slow saccades; Slow visual tracking","HPO_Name__c":"Slow saccadic eye movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423296","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423296","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Psychiatry"],"Account":["Ataxia"]},"synonyms":["sca38"]}