{"Name":"Myoclonic dystonia 11","DiseaseID__c":"GARD:0018616","id":18616,"encodedName":"myoclonic-dystonia-11","IsDeleted":false,"Disease_Name_Full__c":"Myoclonic dystonia 11","Xref_IDs__c":"C1834570; C201596; DOID:0090034; MEDGEN:331778; MONDO:0008044; OMIM:159900","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008044","Disease_Description__c":"Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.","GARD_Name__c":"Myoclonic dystonia 11","GARD_Synonym__c":"dystonia 11; dystonia-11, myoclonic; dystonia, alcohol responsive; dyt11; myoclonic dystonia type 11; myoclonus-dystonia; myoclonus-dystonia syndrome caused by mutation in sgce; sgce myoclonus-dystonia syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Myoclonic dystonia 11 is also known as myoclonus-dystonia syndrome. It is a genetic condition that affects the muscles. This condition causes sudden, brief muscle jerks. These movements mostly in the proximal muscles near a person's core. Most people with this condition also experience uncontrollable muscle contractions. This can lead to abnormal neck postures (torticollis) or hand cramps (writer's cramp). These symptoms usually start in the first or second decade of life. In some adults, the symptoms may improve when drinking alcohol. Some people with this condition may also develop psychiatric symptoms. These include depression, anxiety, panic attacks, and obsessive-compulsive disorder. Dystonia 11, myoclonic is caused by mutations in the SGCE gene. It is inherited in an autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:159900","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008044","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":"Myoclonic dystonia 11 is also known as myoclonus-dystonia syndrome. It is a genetic condition that affects the muscles. This condition causes sudden, brief muscle jerks. These movements mostly in the proximal muscles near a person's core. Most people with this condition also experience uncontrollable muscle contractions. This can lead to abnormal neck postures (torticollis) or hand cramps (writer's cramp). These symptoms usually start in the first or second decade of life. In some adults, the symptoms may improve when drinking alcohol. Some people with this condition may also develop psychiatric symptoms. These include depression, anxiety, panic attacks, and obsessive-compulsive disorder. Dystonia 11, myoclonic is caused by mutations in the SGCE gene. It is inherited in an autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"dystonia 11; dystonia-11, myoclonic; dystonia, alcohol responsive; dyt11; myoclonic dystonia type 11; myoclonus-dystonia; myoclonus-dystonia syndrome caused by mutation in sgce; sgce myoclonus-dystonia syndrome","Name":"Myoclonic dystonia 11","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"},{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1414","Source__c":"Gene Review","Xref__c":"NBK1414"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834570","Source__c":"C1834570","Xref__c":"C1834570"},{"URL__c":"https://www.omim.org/entry/159900","Source__c":"C1834570; MONDO:0008044","Xref__c":"OMIM:159900"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090034","Source__c":"MONDO:0008044","Xref__c":"DOID:0090034"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331778","Source__c":"C1834570","Xref__c":"MEDGEN:331778"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008044","Source__c":"GARD:0018616","Xref__c":"MONDO:0008044"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=439732004","Source__c":"C1834570","Xref__c":"439732004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C201596","Source__c":"C1834570","Xref__c":"C201596"},{"URL__c":"https://medlineplus.gov/genetics/condition/myoclonus-dystonia","Source__c":"GARD:0018616","Xref__c":"https://medlineplus.gov/genetics/condition/myoclonus-dystonia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SGCE","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sgce","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:159900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159900","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:159900","Feature__r":{"HPO_Description__c":"A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000756","HPO_Synonym__c":"Fear of open spaces","HPO_Name__c":"Agoraphobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Behavior that consists of repetitive acts, characterized by the feeling that one \\\"has to\\\" perform them, while being aware that these acts are not in line with one's overall goal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000722","HPO_Synonym__c":"Obsessive compulsive behavior; Obsessive compulsive disorder; Obsessive-compulsive behavior; Obsessive-compulsive disorder; OCD","HPO_Name__c":"Compulsive behaviors","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159900","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:159900","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002356","HPO_Synonym__c":"Writer's cramp","HPO_Name__c":"Writer's cramp","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden episode of intense fear in a situation where there is no danger or apparent cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025269","HPO_Synonym__c":"Panic attack","HPO_Name__c":"Panic attack","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An addictive behavior is defined as drinking excessive amounts of alcohol over a prolonged period of time, having difficulty in reducing the amount of alcohol consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not drinking alcohol.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030955","HPO_Synonym__c":"Alcohol addiction; Alcoholism","HPO_Name__c":"Addictive alcohol use","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159900","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:159900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031959","HPO_Name__c":"Leg dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002530","HPO_Synonym__c":"Truncal dystonia","HPO_Name__c":"Axial dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003785","HPO_Name__c":"Decreased CSF homovanillic acid concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:159900","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:159900","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031960","HPO_Name__c":"Arm dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:159900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020020","HPO_Name__c":"Decreased CSF 5-hydroxyindoleacetic acid concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}}],"tags":{},"synonyms":["dystonia 11"," dystonia-11, myoclonic"," dystonia, alcohol responsive"," dyt11"," myoclonic dystonia type 11"," myoclonus-dystonia"," myoclonus-dystonia syndrome caused by mutation in sgce"," sgce myoclonus-dystonia syndrome"]}