{"Name":"Lafora disease","DiseaseID__c":"GARD:0008214","id":8214,"encodedName":"lafora-disease","IsDeleted":false,"Disease_Name_Full__c":"Lafora disease","Xref_IDs__c":"230425004; C0751783; C84804; D020192; DOID:3534; MEDGEN:155631; MONDO:0009697; OMIMPS:254780; ORPHA:501","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009697","Disease_Description__c":"A rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.","GARD_Name__c":"Lafora disease","GARD_Synonym__c":"epilepsy progressive myoclonic  2; epilepsy, progressive myoclonic 2a (lafora); epilepsy, progressive myoclonic 2b (lafora); epm2; lafora body disease; lafora progressive myoclonic epilepsy; lafora's disease; myoclonic epilepsy of lafora; pme type 2; progressive myoclonic epilepsy type 2; progressive myoclonus epilepsy type 2; progressive myoclonus epilepsy, lafora type","Curated_Disease_Description_Source__c":"GARD:0008214","Curated_Disease_Description__c":"Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time. Myoclonus is a term used to describe episodes of sudden, involuntary muscle jerking or twitching that can affect part of the body or the entire body. Myoclonus can occur when an affected person is at rest, and it is made worse by motion, excitement, or flashing light (photic stimulation). In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body. Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. Generalized tonic-clonic seizures (also known as grand mal seizures) affect the entire body, causing muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also experience occipital seizures, which can cause temporary blindness and visual hallucinations. Over time, the seizures worsen and become more difficult to treat. A life-threatening seizure condition called status epilepticus may also develop. Status epilepticus is a continuous state of seizure activity lasting longer than several minutes. About the same time seizures begin, intellectual function starts to decline. Behavioral changes, depression, confusion, and speech difficulties (dysarthria) are among the early signs and symptoms of this disorder. As the condition worsens, a continued loss of intellectual function (dementia) impairs memory, judgment, and thought. Affected people lose the ability to perform the activities of daily living by their mid-twenties, and they ultimately require comprehensive care. People with Lafora progressive myoclonus epilepsy generally survive up to 10 years after symptoms first appear.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:501","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009697","ORPHANET_ID__c":"ORPHA:501","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de lafora","Spanish_Description_Source__c":"ORPHA:501","Spanish_Description__c":"Es una epilepsia mioclónica progresiva, grave, hereditaria y poco frecuente caracterizada por mioclonos y/o convulsiones generalizadas, alucinaciones visuales (crisis parciales occipitales) y deterioro neurológico progresivo.","Spanish_Disease_Name__c":"enfermedad de lafora","Spanish_GARD_Synonym__c":"emp tipo 2; epilepsia mioclónica progresiva tipo 2; epilepsia progresiva con mioclonías tipo 2; epm2","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":"Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time. Myoclonus is a term used to describe episodes of sudden, involuntary muscle jerking or twitching that can affect part of the body or the entire body. Myoclonus can occur when an affected person is at rest, and it is made worse by motion, excitement, or flashing light (photic stimulation). In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body. Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. Generalized tonic-clonic seizures (also known as grand mal seizures) affect the entire body, causing muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also experience occipital seizures, which can cause temporary blindness and visual hallucinations. Over time, the seizures worsen and become more difficult to treat. A life-threatening seizure condition called status epilepticus may also develop. Status epilepticus is a continuous state of seizure activity lasting longer than several minutes. About the same time seizures begin, intellectual function starts to decline. Behavioral changes, depression, confusion, and speech difficulties (dysarthria) are among the early signs and symptoms of this disorder. As the condition worsens, a continued loss of intellectual function (dementia) impairs memory, judgment, and thought. Affected people lose the ability to perform the activities of daily living by their mid-twenties, and they ultimately require comprehensive care. People with Lafora progressive myoclonus epilepsy generally survive up to 10 years after symptoms first appear.","Curated_Disease_Description_Source__c":"GARD:0008214","GARD_Synonym__c":"epilepsy progressive myoclonic  2; epilepsy, progressive myoclonic 2a (lafora); epilepsy, progressive myoclonic 2b (lafora); epm2; lafora body disease; lafora progressive myoclonic epilepsy; lafora's disease; myoclonic epilepsy of lafora; pme type 2; progressive myoclonic epilepsy type 2; progressive myoclonus epilepsy type 2; progressive myoclonus epilepsy, lafora type","Name":"Lafora disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.org/"},{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"Chelsea's Hope: Lafora Children Research Fund","Website__c":"https://www.chelseashope.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":"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":"Adolescent","Provided_By__c":"ORPHA:501"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:501"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0751783"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008214","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1389","Source__c":"Gene Review","Xref__c":"NBK1389"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3534","Source__c":"MONDO:0009697","Xref__c":"DOID:3534"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230425004","Source__c":"C0751783; MONDO:0009697","Xref__c":"230425004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84804","Source__c":"C0751783; MONDO:0009697","Xref__c":"C84804"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS254780","Source__c":"MONDO:0009697","Xref__c":"OMIMPS:254780"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0751783","Source__c":"C0751783","Xref__c":"C0751783"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020192","Source__c":"C0751783; MONDO:0009697","Xref__c":"D020192"},{"URL__c":"https://www.orpha.net/en/disease/detail/501","Source__c":"C0751783; MONDO:0009697; ORPHA:501","Xref__c":"ORPHA:501"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=155631","Source__c":"C0751783","Xref__c":"MEDGEN:155631"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009697","Source__c":"GARD:0008214","Xref__c":"MONDO:0009697"},{"URL__c":"https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy","Source__c":"GARD:0008214","Xref__c":"https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NHLRC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nhlrc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EPM2A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/epm2a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Partial or complete wasting (loss) of brain tissue that was once present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012444","HPO_Synonym__c":"Brain degeneration; Brain wasting","HPO_Name__c":"Brain atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual perception in the absence of a visual stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002367","HPO_Synonym__c":"Visual hallucinations","HPO_Name__c":"Visual hallucination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002133","HPO_Synonym__c":"Prolonged seizure; Repeated seizure without recovery; Repeated seizures without recovery between them","HPO_Name__c":"Status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040288","HPO_Name__c":"Nasogastric tube feeding","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007270","HPO_Synonym__c":"Atypical absence; Atypical absence seizures; Atypical petit mal seizures","HPO_Name__c":"Atypical absence seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011165","HPO_Synonym__c":"Focal visual seizure; Partial visual seizure; Visual aura; Visual auras","HPO_Name__c":"Focal sensory seizure with visual features","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002100","HPO_Synonym__c":"Recurrent pneumonia due to aspiration,","HPO_Name__c":"Recurrent aspiration pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002384","HPO_Synonym__c":"Complex focal seizures; Complex partial seizure; Complex partial seizures; Dyscognitive seizures; Focal dyscognitive seizure; Focal impaired awareness seizures; Focal seizure with impairment of awareness; Focal seizure with loss of awareness; Focal seizures with impairment of consciousness or awareness; Localised dyscognitive seizure; Localised seizure with impaired awareness; Localised seizure with loss of awareness; Localized dyscognitive seizure; Localized seizure with impaired awareness; Localized seizure with loss of awareness; Partial dyscognitive seizure; Partial seizure with impairment of awareness; Partial seizure with loss of awareness","HPO_Name__c":"Focal impaired awareness seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Occasional (5-29%)","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:501","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002121","HPO_Synonym__c":"Absence seizure; Absence seizures; Brief seizures with staring spells; Petit mal; Petit mal seizure; Petit mal seizures","HPO_Name__c":"Generalized non-motor (absence) seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","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:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000712","HPO_Name__c":"Emotional lability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. 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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:501","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031358","HPO_Synonym__c":"Unresponsive wakefulness","HPO_Name__c":"Vegetative state","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","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:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of clarity and coherence of thought, perception, understanding, or action.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001289","HPO_Synonym__c":"Confusion; Disorientation; Easily confused; Mental disorientation","HPO_Name__c":"Confusion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","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:501","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002521","HPO_Synonym__c":"Hypsarrhythmia by EEG","HPO_Name__c":"Hypsarrhythmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An intraneuronal inclusion body composed of acid mucopolysaccharides.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100318","HPO_Name__c":"Lafora bodies","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025357","HPO_Synonym__c":"Fragmentary myoclonus","HPO_Name__c":"Erratic myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:501","HPO_Frequency__c":"Frequent (30-79%)","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","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["epilepsy progressive myoclonic  2"," epilepsy, progressive myoclonic 2a (lafora)"," epilepsy, progressive myoclonic 2b (lafora)"," epm2"," lafora body disease"," lafora progressive myoclonic epilepsy"," lafora's disease"," myoclonic epilepsy of lafora"," pme type 2"," progressive myoclonic epilepsy type 2"," progressive myoclonus epilepsy type 2"," progressive myoclonus epilepsy, lafora type"]}