{"Name":"Epilepsy, progressive myoclonic, 1B","DiseaseID__c":"GARD:0015556","id":15556,"encodedName":"epilepsy-progressive-myoclonic-1b","IsDeleted":false,"Disease_Name_Full__c":"Epilepsy, progressive myoclonic, 1B","Xref_IDs__c":"702326000; C2676254; C580388; DOID:0111448; MEDGEN:394003; MONDO:0012904; OMIM:612437","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012904","Disease_Description__c":"Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.","GARD_Name__c":"Epilepsy, progressive myoclonic, 1B","GARD_Synonym__c":"epilepsy, progressive myoclonic 1b; epilepsy, progressive myoclonic, type 1b; pme; prickle1 progressive myoclonic epilepsy; prickle1-related progressive myoclonic epilepsy with ataxia; progressive myoclonic epilepsy 1b; progressive myoclonic epilepsy caused by mutation in prickle1; progressive myoclonus epilepsy with ataxia","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10. Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. Affected children often have trouble walking. Their gait is unbalanced and wide-based, and they may fall frequently. Later, children with this condition develop episodes of involuntary muscle jerking or twitching (myoclonus), which cause additional problems with movement. Myoclonus can also affect muscles in the face, leading to difficulty swallowing and slurred speech (dysarthria). Beginning later in childhood, some affected individuals develop tonic-clonic or grand mal seizures. These seizures involve a loss of consciousness, muscle rigidity, and convulsions. They often occur at night (nocturnally) while the person is sleeping. PRICKLE1-related progressive myoclonus epilepsy with ataxia does not seem to affect intellectual ability. Although a few affected individuals have died in childhood, many have lived into adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:612437","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012904","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10. Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. Affected children often have trouble walking. Their gait is unbalanced and wide-based, and they may fall frequently. Later, children with this condition develop episodes of involuntary muscle jerking or twitching (myoclonus), which cause additional problems with movement. Myoclonus can also affect muscles in the face, leading to difficulty swallowing and slurred speech (dysarthria). Beginning later in childhood, some affected individuals develop tonic-clonic or grand mal seizures. These seizures involve a loss of consciousness, muscle rigidity, and convulsions. They often occur at night (nocturnally) while the person is sleeping. PRICKLE1-related progressive myoclonus epilepsy with ataxia does not seem to affect intellectual ability. Although a few affected individuals have died in childhood, many have lived into adulthood.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"epilepsy, progressive myoclonic 1b; epilepsy, progressive myoclonic, type 1b; pme; prickle1 progressive myoclonic epilepsy; prickle1-related progressive myoclonic epilepsy with ataxia; progressive myoclonic epilepsy 1b; progressive myoclonic epilepsy caused by mutation in prickle1; progressive myoclonus epilepsy with ataxia","Name":"Epilepsy, progressive myoclonic, 1B","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ataxia UK","Website__c":"https://www.ataxia.org.uk/"},{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK9674","Source__c":"Gene Review","Xref__c":"NBK9674"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=394003","Source__c":"C2676254","Xref__c":"MEDGEN:394003"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702326000","Source__c":"C2676254; MONDO:0012904","Xref__c":"702326000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C580388","Source__c":"MONDO:0012904","Xref__c":"C580388"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111448","Source__c":"MONDO:0012904","Xref__c":"DOID:0111448"},{"URL__c":"https://www.omim.org/entry/612437","Source__c":"C2676254; MONDO:0012904","Xref__c":"OMIM:612437"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2676254","Source__c":"C2676254","Xref__c":"C2676254"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012904","Source__c":"GARD:0015556","Xref__c":"MONDO:0012904"},{"URL__c":"https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia","Source__c":"GARD:0015556","Xref__c":"https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRICKLE1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prickle1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612437","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:612437","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":"OMIM:612437","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612437","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":"OMIM:612437","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":"OMIM:612437","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":"OMIM:612437","Feature__r":{"HPO_Description__c":"Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010819","HPO_Synonym__c":"Astatic seizure; Astatic seizures; Atonic seizures; Drop attacks; Drop seizures; Hypotonic seizure","HPO_Name__c":"Atonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612437","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:612437","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"}}],"tags":{"Account":["Epilepsy"],"Specialist":["Epilepsy"]},"synonyms":["epilepsy, progressive myoclonic 1b"," epilepsy, progressive myoclonic, type 1b"," pme"," prickle1 progressive myoclonic epilepsy"," prickle1-related progressive myoclonic epilepsy with ataxia"," progressive myoclonic epilepsy 1b"," progressive myoclonic epilepsy caused by mutation in prickle1"," progressive myoclonus epilepsy with ataxia"]}