{"Name":"Familial infantile myoclonic epilepsy","DiseaseID__c":"GARD:0017521","id":17521,"encodedName":"familial-infantile-myoclonic-epilepsy","IsDeleted":false,"Disease_Name_Full__c":"Familial infantile myoclonic epilepsy","Xref_IDs__c":"784342008; C0917800; MEDGEN:181488; MONDO:0011506; OMIM:605021; ORPHA:352582","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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:352582","Disease_Description__c":"A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.","GARD_Name__c":"Familial infantile myoclonic epilepsy","GARD_Synonym__c":"epilepsy, myoclonic, infantile; familial infantile myoclonus epilepsy; fime; fime - familial infantile myoclonic epilepsy; myoclonic epilepsy, infantile, familial","Curated_Disease_Description_Source__c":"ORPHA:352582","Curated_Disease_Description__c":"A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:352582","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011506","ORPHANET_ID__c":"ORPHA:352582","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia mioclónica familiar del lactante","Spanish_Description_Source__c":"ORPHA:352582","Spanish_Description__c":"Es un síndrome epiléptico del lactante, genético y poco frecuente, caracterizado por crisis mioclónicas focales de inicio neonatal o en el lactante que se presentan en varios miembros de una misma familia, asociada en algunos casos a leve disartria, ataxia y discapacidad intelectual de limítrofe a moderada.","Spanish_Disease_Name__c":"epilepsia mioclónica familiar del lactante","Spanish_GARD_Synonym__c":"fime","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, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.","Curated_Disease_Description_Source__c":"ORPHA:352582","GARD_Synonym__c":"epilepsy, myoclonic, infantile; familial infantile myoclonus epilepsy; fime; fime - familial infantile myoclonic epilepsy; myoclonic epilepsy, infantile, familial","Name":"Familial infantile myoclonic epilepsy","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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"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":"Neonatal","Provided_By__c":"ORPHA:352582"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:352582"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK274566","Source__c":"Gene Review","Xref__c":"NBK274566"},{"URL__c":"https://www.orpha.net/en/disease/detail/352582","Source__c":"C0917800; MONDO:0011506; ORPHA:352582","Xref__c":"ORPHA:352582"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=181488","Source__c":"C0917800","Xref__c":"MEDGEN:181488"},{"URL__c":"https://www.omim.org/entry/605021","Source__c":"C0917800; MONDO:0011506","Xref__c":"OMIM:605021"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0917800","Source__c":"C0917800","Xref__c":"C0917800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=784342008","Source__c":"C0917800","Xref__c":"784342008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011506","Source__c":"GARD:0017521","Xref__c":"MONDO:0011506"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBC1D24","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tbc1d24","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:352582","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025190","HPO_Synonym__c":"Generalised tonic-clonic seizure without focal onset; Generalised tonic-clonic seizure without partial onset; Generalised tonic-clonic seizures without focal onset; Generalised-onset tonic-clonic seizure; Generalized tonic-clonic seizure without focal onset; Generalized tonic-clonic seizure without partial onset; Generalized tonic-clonic seizures without focal onset; Generalized-onset tonic-clonic seizure; Primarily generalized tonic-clonic seizures; Primary generalized tonic-clonic seizure; Primary generalized tonic-clonic seizures","HPO_Name__c":"Bilateral tonic-clonic seizure with generalized onset","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the hippocampus,","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025100","HPO_Synonym__c":"Abnormal morphology of the hippocampus; Abnormality of hippocampus morphology","HPO_Name__c":"Abnormal hippocampus morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002123","HPO_Synonym__c":"Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonus seizures","HPO_Name__c":"Generalized myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006889","HPO_Synonym__c":"Intellectual disability, borderline; Mental retardation, borderline","HPO_Name__c":"Borderline intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045084","HPO_Synonym__c":"Myoclonus of limbs","HPO_Name__c":"Limb myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006891","HPO_Name__c":"Thick cerebral cortex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000643","HPO_Synonym__c":"Eyelid spasm; Eyelid twitching; Involuntary closure of eyelid; Spontaneous closure of eyelid","HPO_Name__c":"Blepharospasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011171","HPO_Synonym__c":"Simple febrile convulsion; Simple febrile seizures; Simple fever fit","HPO_Name__c":"Simple febrile seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","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:352582","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:352582","HPO_Frequency__c":"Occasional (5-29%)","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:352582","HPO_Frequency__c":"Occasional (5-29%)","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:352582","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032388","HPO_Name__c":"Periventricular nodular heterotopia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007359","HPO_Synonym__c":"Focal onset seizure; Focal seizure; Focal seizures; Focal-onset seizures; Partial seizure; Partial seizures; Seizure affecting one half of brain","HPO_Name__c":"Focal-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","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:352582","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011197","HPO_Name__c":"EEG with focal spike waves","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025373","HPO_Name__c":"Interictal EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002312","HPO_Synonym__c":"Clumsiness","HPO_Name__c":"Clumsiness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352582","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["epilepsy, myoclonic, infantile"," familial infantile myoclonus epilepsy"," fime"," fime - familial infantile myoclonic epilepsy"," myoclonic epilepsy, infantile, familial"]}