{"Name":"Myoclonus-dystonia syndrome","DiseaseID__c":"GARD:0007139","id":7139,"encodedName":"myoclonus-dystonia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Myoclonus-dystonia syndrome","Xref_IDs__c":"439732004; C536096; CN295306; DOID:0090033; MEDGEN:977133; MONDO:0000903; ORPHA:36899","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":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0000903","Disease_Description__c":"Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.","GARD_Name__c":"Myoclonus-dystonia syndrome","GARD_Synonym__c":"alcohol-responsive dystonia; dystonia with myoclonus; dyt-sgce; hereditary essential myoclonus; myoclonic dystonia","Curated_Disease_Description_Source__c":"MONDO:0000903","Curated_Disease_Description__c":"Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writers cramp, or the neck, causing the head to turn (torticollis). The movement problems usually first appear in childhood or early adolescence with the development of myoclonus. In most cases, the movement problems remain stable throughout life. In some adults, myoclonus improves with alcohol consumption, which can lead to affected individuals self-medicating and developing alcohol use disorder. People with myoclonus-dystonia often develop psychological disorders such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:36899","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000903","ORPHANET_ID__c":"ORPHA:36899","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de distonía-mioclonía","Spanish_Description_Source__c":"ORPHA:36899","Spanish_Description__c":"El síndrome de distonía mioclónica (MDS) es un trastorno raro del movimiento caracterizado por una distonía de leve a moderada junto con sacudidas mioclónicoa fulgurantes.","Spanish_Disease_Name__c":"síndrome de distonía-mioclonía","Spanish_GARD_Synonym__c":"distonía mioclónica; distonía sensible al alcohol; mioclono esencial hereditario","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":"Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writers cramp, or the neck, causing the head to turn (torticollis). The movement problems usually first appear in childhood or early adolescence with the development of myoclonus. In most cases, the movement problems remain stable throughout life. In some adults, myoclonus improves with alcohol consumption, which can lead to affected individuals self-medicating and developing alcohol use disorder. People with myoclonus-dystonia often develop psychological disorders such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).","Curated_Disease_Description_Source__c":"MONDO:0000903","GARD_Synonym__c":"alcohol-responsive dystonia; dystonia with myoclonus; dyt-sgce; hereditary essential myoclonus; myoclonic dystonia","Name":"Myoclonus-dystonia syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Ireland","Website__c":"https://www.dystonia.ie/"},{"Account_Name__c":"Dystonia Medical Research Foundation Canada","Website__c":"https://dystoniacanada.org/"},{"Account_Name__c":"Dystonia Network of Australia","Website__c":"https://dystonia.org.au/"},{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"},{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"}],"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":"Dystonia","Tag_Category__c":"Account","curated_tag_name":"Dystonia"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:36899"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:36899"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:36899"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1834570"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007139","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090033","Source__c":"MONDO:0000903","Xref__c":"DOID:0090033"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536096","Source__c":"MONDO:0000903","Xref__c":"C536096"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=439732004","Source__c":"MONDO:0000903","Xref__c":"439732004"},{"URL__c":"https://www.orpha.net/en/disease/detail/36899","Source__c":"CN295306; MONDO:0000903","Xref__c":"ORPHA:36899"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=977133","Source__c":"CN295306","Xref__c":"MEDGEN:977133"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN295306","Source__c":"CN295306","Xref__c":"CN295306"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000903","Source__c":"GARD:0007139","Xref__c":"MONDO:0000903"}],"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},{"GeneSymbol__c":"KCTD17","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:36899","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:36899","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:36899","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012075","HPO_Name__c":"Personality disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36899","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010531","HPO_Name__c":"Spinal myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36899","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:36899","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":"ORPHA:36899","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:36899","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:36899","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:36899","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":"ORPHA:36899","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Dystonia"]},"synonyms":["alcohol-responsive dystonia"," dystonia with myoclonus"," dyt-sgce"," hereditary essential myoclonus"," myoclonic dystonia"]}