{"Name":"Unverricht-Lundborg syndrome","DiseaseID__c":"GARD:0003876","id":3876,"encodedName":"unverricht-lundborg-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Unverricht-Lundborg syndrome","Xref_IDs__c":"230423006; C0751785; C179710; D020194; DOID:0111452; DOID:3535; MEDGEN:155923; MONDO:0009698; OMIM:254800; ORPHA:308","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009698","Disease_Description__c":"A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.","GARD_Name__c":"Unverricht-Lundborg syndrome","GARD_Synonym__c":"baltic myoclonus epilepsy; epilepsy, progressive myoclonic 1a (unverricht and lundborg); epilepsy, progressive myoclonic, 1a; epm1; myoclonic epilepsy of unverricht and lundborg; myoclonus progressive epilepsy of unverricht and lundborg; pme type 1; progressive myoclonic epilepsy type 1; progressive myoclonus epilepsy baltic myoclonic epilepsy; progressive myoclonus epilepsy type 1; uld; unverricht - lundborg disease; unverricht-lundborg disease; unverricht's disease","Curated_Disease_Description_Source__c":"GARD:0003876","Curated_Disease_Description__c":"Progressive myoclonic epilepsy type 1 (also called Unverricht-Lundborg disease  or ULD) is a rare inherited form of epilepsy. Early development is normal in affected individuals. Signs and symptoms of the disorder typically begin between  6 and 15 years of age.  People with progressive myoclonic epilepsy type 1 experience episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Within 5 to 10 years, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Affected individuals also usually have seizures that involve loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years. However, the seizures may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease. Eventually, people with progressive myoclonic epilepsy type 1 may develop problems with balance and coordination (ataxia) and speaking (dysarthria). They may also experience depression. Another feature of this condition is involuntary rhythmic shaking. This shaking is called intentional tremor because it worsens during intentional movements. People with progressive myoclonic epilepsy type 1 may live into adulthood. Life expectancy depends on the severity of the condition and a person's response to treatment.  The severity of the condition can vary, even among members of the same family.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:308","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009698","ORPHANET_ID__c":"ORPHA:308","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia mioclónica progresiva tipo 1","Spanish_Description_Source__c":"ORPHA:308","Spanish_Description__c":"Es un trastorno de epilepsia mioclónica progresiva (EMP) poco frecuente caracterizado por mioclonías sensibles a la acción y a los estímulos, y crisis tónico-clónicas con ataxia, pero con tan solo una leve afectación cognitiva con el tiempo.","Spanish_Disease_Name__c":"epilepsia mioclónica progresiva tipo 1","Spanish_GARD_Synonym__c":"emp tipo 1; enfermedad de unverricht-lundborg; epilepsia progresiva con mioclonías tipo 1; uld","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":"Progressive myoclonic epilepsy type 1 (also called Unverricht-Lundborg disease  or ULD) is a rare inherited form of epilepsy. Early development is normal in affected individuals. Signs and symptoms of the disorder typically begin between  6 and 15 years of age.  People with progressive myoclonic epilepsy type 1 experience episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Within 5 to 10 years, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Affected individuals also usually have seizures that involve loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years. However, the seizures may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease. Eventually, people with progressive myoclonic epilepsy type 1 may develop problems with balance and coordination (ataxia) and speaking (dysarthria). They may also experience depression. Another feature of this condition is involuntary rhythmic shaking. This shaking is called intentional tremor because it worsens during intentional movements. People with progressive myoclonic epilepsy type 1 may live into adulthood. Life expectancy depends on the severity of the condition and a person's response to treatment.  The severity of the condition can vary, even among members of the same family.","Curated_Disease_Description_Source__c":"GARD:0003876","GARD_Synonym__c":"baltic myoclonus epilepsy; epilepsy, progressive myoclonic 1a (unverricht and lundborg); epilepsy, progressive myoclonic, 1a; epm1; myoclonic epilepsy of unverricht and lundborg; myoclonus progressive epilepsy of unverricht and lundborg; pme type 1; progressive myoclonic epilepsy type 1; progressive myoclonus epilepsy baltic myoclonic epilepsy; progressive myoclonus epilepsy type 1; uld; unverricht - lundborg disease; unverricht-lundborg disease; unverricht's disease","Name":"Unverricht-Lundborg syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"Epilepsy Action","Website__c":"https://www.epilepsy.org.uk/"},{"Account_Name__c":"Hope for ULD","Website__c":"https://www.hopeforuld.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":"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":"Adolescent","Provided_By__c":"ORPHA:308"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:308"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0751785"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003876","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1142","Source__c":"Gene Review","Xref__c":"NBK1142"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=155923","Source__c":"C0751785","Xref__c":"MEDGEN:155923"},{"URL__c":"https://www.orpha.net/en/disease/detail/308","Source__c":"C0751785; MONDO:0009698; ORPHA:308","Xref__c":"ORPHA:308"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0751785","Source__c":"C0751785","Xref__c":"C0751785"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230423006","Source__c":"C0751785; MONDO:0009698","Xref__c":"230423006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111452","Source__c":"MONDO:0009698","Xref__c":"DOID:0111452"},{"URL__c":"https://www.omim.org/entry/254800","Source__c":"C0751785; MONDO:0009698; ORPHA:308","Xref__c":"OMIM:254800"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3535","Source__c":"MONDO:0009698","Xref__c":"DOID:3535"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020194","Source__c":"C0751785; MONDO:0009698","Xref__c":"D020194"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009698","Source__c":"GARD:0003876","Xref__c":"MONDO:0009698"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C179710","Source__c":"C0751785","Xref__c":"C179710"},{"URL__c":"https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1","Source__c":"GARD:0003876","Xref__c":"https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CSTB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cstb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:308","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:308","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007000","HPO_Name__c":"Morning myoclonic jerks","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:308","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":"ORPHA:308","HPO_Frequency__c":"Frequent (30-79%)","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:308","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of complexes of repetitive spikes and waves in EEG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002392","HPO_Synonym__c":"EEG: spike and multispike waves, 3-4 hz","HPO_Name__c":"EEG with polyspike wave complexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:308","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:308","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002080","HPO_Name__c":"Intention tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:308","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:308","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:308","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["baltic myoclonus epilepsy"," epilepsy, progressive myoclonic 1a (unverricht and lundborg)"," epilepsy, progressive myoclonic, 1a"," epm1"," myoclonic epilepsy of unverricht and lundborg"," myoclonus progressive epilepsy of unverricht and lundborg"," pme type 1"," progressive myoclonic epilepsy type 1"," progressive myoclonus epilepsy baltic myoclonic epilepsy"," progressive myoclonus epilepsy type 1"," uld"," unverricht - lundborg disease"," unverricht-lundborg disease"," unverricht's disease"]}