Abstract
Myoclonus–dystonia syndrome is one of the well-defined “combined dystonia” syndromes, now observed in many conditions, including genetic and acquired. With widespread access to next-generation sequencing techniques, the list of genetic diseases manifesting as combined dystonia with myoclonus continues to expand. In this article, we aim to review different etiologies of combined dystonia with myoclonus. We searched databases such as PubMed, OMIM, and Gene Review using the keywords “dystonia and myoclonus” and “myoclonus–dystonia” to identify such disorders. We identified different acquired and genetic disorders manifesting with the combination of dystonia and myoclonus, with or without other movement disorders, irrespective of the predominant movement disorder. In addition, we propose the diagnostic algorithms for children and adults with myoclonus and dystonia, based on clinical manifestations to guide diagnostic procedures and further management.
Published Version
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