{"Name":"Progressive myoclonic epilepsy type 8","DiseaseID__c":"GARD:0017706","id":17706,"encodedName":"progressive-myoclonic-epilepsy-type-8","IsDeleted":false,"Disease_Name_Full__c":"Progressive myoclonic epilepsy type 8","Xref_IDs__c":"783139000; C5190825; DOID:0111451; MEDGEN:1680582; MONDO:0014545; OMIM:616230; ORPHA:424027","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014545","Disease_Description__c":"Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.","GARD_Name__c":"Progressive myoclonic epilepsy type 8","GARD_Synonym__c":"cers1 progressive myoclonic epilepsy; epilepsy, progressive myoclonic, type 8; epm8; pme (progressive myoclonic epilepsy) type 8; pme type 8; progressive myoclonic epilepsy caused by mutation in cers1; progressive myoclonic epilepsy due to ceramide synthase 1 deficiency; progressive myoclonic epilepsy due to cers1 (ceramide synthase 1) deficiency; progressive myoclonic epilepsy due to cers1 deficiency; progressive myoclonus epilepsy type 8","Curated_Disease_Description_Source__c":"ORPHA:424027","Curated_Disease_Description__c":"A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:424027","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014545","ORPHANET_ID__c":"ORPHA:424027","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia mioclónica progresiva tipo 8","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"epilepsia mioclónica progresiva tipo 8","Spanish_GARD_Synonym__c":"emp tipo 8; epilepsia mioclónica progresiva por deficiencia de cers1; epilepsia progresiva con mioclonías tipo 8; epm8","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, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.","Curated_Disease_Description_Source__c":"ORPHA:424027","GARD_Synonym__c":"cers1 progressive myoclonic epilepsy; epilepsy, progressive myoclonic, type 8; epm8; pme (progressive myoclonic epilepsy) type 8; pme type 8; progressive myoclonic epilepsy caused by mutation in cers1; progressive myoclonic epilepsy due to ceramide synthase 1 deficiency; progressive myoclonic epilepsy due to cers1 (ceramide synthase 1) deficiency; progressive myoclonic epilepsy due to cers1 deficiency; progressive myoclonus epilepsy type 8","Name":"Progressive myoclonic epilepsy type 8","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"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":"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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:424027"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:424027"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1680582","Source__c":"C5190825","Xref__c":"MEDGEN:1680582"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190825","Source__c":"C5190825","Xref__c":"C5190825"},{"URL__c":"https://www.omim.org/entry/616230","Source__c":"C5190825; MONDO:0014545; ORPHA:424027","Xref__c":"OMIM:616230"},{"URL__c":"https://www.orpha.net/en/disease/detail/424027","Source__c":"C5190825; MONDO:0014545; ORPHA:424027","Xref__c":"ORPHA:424027"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111451","Source__c":"MONDO:0014545","Xref__c":"DOID:0111451"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783139000","Source__c":"C5190825","Xref__c":"783139000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014545","Source__c":"GARD:0017706","Xref__c":"MONDO:0014545"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CERS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034360","HPO_Name__c":"Action myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616230","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:616230","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":"OMIM:616230","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":"OMIM:616230","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:616230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002069","HPO_Synonym__c":"Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions","HPO_Name__c":"Bilateral tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616230","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":"OMIM:616230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002527","HPO_Synonym__c":"Falls","HPO_Name__c":"Falls","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001266","HPO_Synonym__c":"Choreoathetoid movements","HPO_Name__c":"Choreoathetosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007366","HPO_Synonym__c":"Brainstem atrophy","HPO_Name__c":"Atrophy/Degeneration affecting the brainstem","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616230","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:616230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616230","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:616230","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"}},{"Provided_By__c":"OMIM:616230","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":"OMIM:616230","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616230","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:616230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010852","HPO_Synonym__c":"Photoparoxysmal response on EEG","HPO_Name__c":"EEG with photoparoxysmal response","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["cers1 progressive myoclonic epilepsy"," epilepsy, progressive myoclonic, type 8"," epm8"," pme (progressive myoclonic epilepsy) type 8"," pme type 8"," progressive myoclonic epilepsy caused by mutation in cers1"," progressive myoclonic epilepsy due to ceramide synthase 1 deficiency"," progressive myoclonic epilepsy due to cers1 (ceramide synthase 1) deficiency"," progressive myoclonic epilepsy due to cers1 deficiency"," progressive myoclonus epilepsy type 8"]}