A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report

BMC Neurology

Ana Westenberger¹  Christine Klein¹  Meliza Angelica J. de Leon²  Raymond L. Rosales³ 

[1] Institute of Neurogenetics, University of Lübeck, Lübeck, Germany;Neuroscience Institute, Department of Neuroscience & Behavioral Medicine, University of Santo Tomas Hospital, España Boulevard, Sampaloc, 1015, Manila, Metro Manila, Philippines;Neuroscience Institute, Department of Neuroscience & Behavioral Medicine, University of Santo Tomas Hospital, España Boulevard, Sampaloc, 1015, Manila, Metro Manila, Philippines;Institute for Neurosciences, St. Luke’s Medical Center, Quezon City, Philippines;

关键词: Myoclonus;    Dystonia;    -SGCE;    Case report;   

DOI  :  10.1186/s12883-021-02530-z

来源: Springer

【 摘 要 】

BackgroundMyoclonus-dystonia is a rare movement disorder with an autosomal dominant inheritance pattern characterized by a combination of myoclonic jerks and dystonia that may have psychiatric manifestations. Our aim is to present neurologic and psychiatric phenotypic characteristics in the first Filipino bi-ethnic myoclonus-dystonia patient and her father.Case presentationWe investigated a Filipino myoclonus-dystonia patient with a positive family history. This 21-year-old woman of mixed Filipino-Greek ethnicity presented with involuntary jerking movements of her upper extremities, head, and trunk. Her symptoms affected her activities of daily living which led her to develop moderate depression, mild to moderate anxiety, and mild obsessive-compulsive disorder (OCD). Her 49-year-old Greek father suffered from adolescence-onset myoclonus-dystonia.ConclusionGenetic testing revealed a novel epsilon-sarcoglycan (SGCE) gene nonsense mutation c.821C > A; p.Ser274* that confirmed our clinical diagnosis. For co-morbid anxiety, depression, and OCD, this patient was given duloxetine, in addition to clonazepam for the myoclonus and dystonia.

【 授权许可】

CC BY