{"Name":"Spinocerebellar ataxia with epilepsy","DiseaseID__c":"GARD:0017229","id":17229,"encodedName":"spinocerebellar-ataxia-with-epilepsy","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia with epilepsy","Xref_IDs__c":"C1843852; C564395; MEDGEN:334510; MONDO:0016809; ORPHA:254881","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"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":2,"Description_Source__c":"ORPHA:254881","Disease_Description__c":"Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.","GARD_Name__c":"Spinocerebellar ataxia with epilepsy","GARD_Synonym__c":"memsa - myoclonic epilepsy myopathy sensory ataxia; mitochondrial spinocerebellar ataxia with epilepsy; mscae; myoclonic epilepsy myopathy sensory ataxia; scae","Curated_Disease_Description_Source__c":"ORPHA:254881","Curated_Disease_Description__c":"Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE). The first symptom of MEMSA is usually cerebellar ataxia, which refers to problems with coordination and balance due to defects in the part of the brain that is involved in coordinating movement (cerebellum). Recurrent seizures (epilepsy) usually develop later, often in combination with uncontrollable muscle jerks (myoclonus). The seizures usually begin in the right arm and spread to become generalized throughout the body. Additionally, affected individuals may have severe brain dysfunction (encephalopathy) or muscle weakness (myopathy). The myopathy can affect muscles close to the center of the body (proximal), such as the muscles of the hips, thighs, upper arms, or neck, or muscles farther away from the center of the body (distal), such as the muscles of the hands or feet. The myopathy may be especially noticeable during exercise (exercise intolerance).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:254881","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016809","ORPHANET_ID__c":"ORPHA:254881","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa con epilepsia","Spanish_Description_Source__c":"ORPHA:254881","Spanish_Description__c":"La ataxia espinocerebelosa con epilepsia es un síndrome poco frecuente de alteración del mantenimiento del ADN mitocondrial, caracterizado por ataxia cerebelosa, neuropatía periférica sensitiva, mioclono, epilepsia, deterioro cognitivo progresivo, ptosis de inicio tardío y oftalmoplejía externa. También puede presentarse insuficiencia hepática, más frecuentemente si se usa el antiepiléptico valproato sódico.","Spanish_Disease_Name__c":"ataxia espinocerebelosa con epilepsia","Spanish_GARD_Synonym__c":"ataxia espinocerebelosa mitocondrial con epilepsia; mscae; scae","Category_Linearization__c":"ORPHA:68367","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":"Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE). The first symptom of MEMSA is usually cerebellar ataxia, which refers to problems with coordination and balance due to defects in the part of the brain that is involved in coordinating movement (cerebellum). Recurrent seizures (epilepsy) usually develop later, often in combination with uncontrollable muscle jerks (myoclonus). The seizures usually begin in the right arm and spread to become generalized throughout the body. Additionally, affected individuals may have severe brain dysfunction (encephalopathy) or muscle weakness (myopathy). The myopathy can affect muscles close to the center of the body (proximal), such as the muscles of the hips, thighs, upper arms, or neck, or muscles farther away from the center of the body (distal), such as the muscles of the hands or feet. The myopathy may be especially noticeable during exercise (exercise intolerance).","Curated_Disease_Description_Source__c":"ORPHA:254881","GARD_Synonym__c":"memsa - myoclonic epilepsy myopathy sensory ataxia; mitochondrial spinocerebellar ataxia with epilepsy; mscae; myoclonic epilepsy myopathy sensory ataxia; scae","Name":"Spinocerebellar ataxia with epilepsy","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":"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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:254881"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:254881"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK26471","Source__c":"Gene Review","Xref__c":"NBK26471"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334510","Source__c":"C1843852","Xref__c":"MEDGEN:334510"},{"URL__c":"https://www.orpha.net/en/disease/detail/254881","Source__c":"C1843852; MONDO:0016809; ORPHA:254881","Xref__c":"ORPHA:254881"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843852","Source__c":"C1843852","Xref__c":"C1843852"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564395","Source__c":"MONDO:0016809","Xref__c":"C564395"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699328003","Source__c":"C1843852","Xref__c":"699328003"},{"URL__c":"https://medlineplus.gov/genetics/condition/myoclonic-epilepsy-myopathy-sensory-ataxia","Source__c":"GARD:0017229","Xref__c":"https://medlineplus.gov/genetics/condition/myoclonic-epilepsy-myopathy-sensory-ataxia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016809","Source__c":"GARD:0017229","Xref__c":"MONDO:0016809"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POLG","GHR_URL__c":"https://medlineplus.gov/genetics/gene/polg","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of alanine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003348","HPO_Synonym__c":"Increased blood alanine; Increased serum alanine","HPO_Name__c":"Hyperalaninemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:254881","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:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","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:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000597","HPO_Synonym__c":"Extraocular muscle palsy; Extraocular muscle paralysis; Weakness of extraocular eye movement; Weakness of muscles controlling eye movement","HPO_Name__c":"Ophthalmoparesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","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:254881","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:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An axonal neuropathy of peripheral sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003390","HPO_Synonym__c":"Axonal sensory neuropathy","HPO_Name__c":"Sensory axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002344","HPO_Synonym__c":"Neurologic deterioration; Neurologic deterioration, progressive; Progressive mental deterioration; Progressive neurodegeneration; Worsening neurological symptoms","HPO_Name__c":"Progressive neurologic deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Partial or complete loss of vision in one half of the visual field of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012377","HPO_Synonym__c":"Hemianopsia","HPO_Name__c":"Hemianopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000182","HPO_Synonym__c":"Abnormality of lingual movement; Movement abnormality of the tongue","HPO_Name__c":"Movement abnormality of the tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012692","HPO_Name__c":"Focal T2 hyperintense thalamic lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002448","HPO_Name__c":"Progressive encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","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:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006554","HPO_Synonym__c":"Acute liver failure","HPO_Name__c":"Acute hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","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:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nystagmus made apparent by looking to the right or to the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000640","HPO_Name__c":"Gaze-evoked nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Focal epileptiform EEG discharges recorded in the occipital region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033720","HPO_Name__c":"EEG with occipital epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","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:254881","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:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025722","HPO_Name__c":"Cerebral infarct","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007334","HPO_Synonym__c":"Focal seizure with secondary generalization; Focal to bilateral tonic-clonic seizure; Generalised tonic-clonic seizure with focal onset; Generalised tonic-clonic seizure with partial onset; Generalized tonic-clonic seizure with focal onset; Generalized tonic-clonic seizure with partial onset; Generalized tonic-clonic seizures with focal onset; Partial seizure with secondary generalization; Partial seizures with secondary generalization; Secondarily generalized tonic-clonic seizure; Secondarily generalized tonic-clonic seizures; Secondary generalized tonic clonic seizures; Secondary generalized tonic-clonic seizures","HPO_Name__c":"Bilateral tonic-clonic seizure with focal onset","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["memsa - myoclonic epilepsy myopathy sensory ataxia"," mitochondrial spinocerebellar ataxia with epilepsy"," mscae"," myoclonic epilepsy myopathy sensory ataxia"," scae"]}