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myoclonic","evidence":"PCS","frequency_raw":"4/41","hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"PMID:11528394;PMID:28949039","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/myoclonus-dystonia\">Myoclonus-dystonia</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the SGCE gene cause 30 to 50 percent of cases of myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon (ε)-sarcoglycan, whose function is unknown. The ε-sarcoglycan protein is located within the outer membrane of cells in many tissues, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells.</p><p>SGCE gene mutations that cause myoclonus-dystonia result in a shortage (deficiency) of functional ε-sarcoglycan protein. This lack of functional protein seems to affect the regions of the brain involved in coordinating and controlling movements (the cerebellum and basal ganglia, respectively). It is unknown why SGCE gene mutations seem to affect only these areas of the brain.</p><p>Mutations in multiple other genes are associated with myoclonus-dystonia. Mutations in each of these genes cause a small percentage of cases. These genes are primarily active (expressed) in the brain and mutations likely lead to impairment of normal movement.</p><p>Some people with myoclonus-dystonia do not have an identified mutation in any of the known associated genes. The cause of the condition in these individuals is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/myoclonus-dystonia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Myoclonus-dystonia?"},{"bodyHtml":"<p>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.</p><p>People with myoclonus-dystonia often develop psychological disorders such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/myoclonus-dystonia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"myoclonus-dystonia","sourceDocuments":[{"name":"Myoclonus-dystonia","reviewed":"2017-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:38.197545+00:00","label":"Causes","pageSha256":"4abc58124b4dc81c45a8d9256ff3752206d4f89ac0a6b29b0852c5bdae2e0932","sourceUrl":"https://medlineplus.gov/genetics/condition/myoclonus-dystonia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/myoclonus-dystonia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Myoclonus-dystonia"},"schemaVersion":1}