We describe the case of a 42-year-old Japanese woman with childhood-onset myoclonus, dystonia, and psychiatric symptoms, including anxiety, phobia, and exaggerated startle response. The diagnosis was confirmed as myoclonus-dystonia (DYT11) by identifying a mutation in the gene encoding ε-sarcoglycan. Interestingly, while motor-related symptoms in DYT11 generally improve with alcohol ingestion, the patient’s symptoms were exacerbated by alcohol intake. Her severe and medically intractable symptoms were alleviated by bilateral deep brain stimulation of the globus pallidus internus, with myoclonus and dystonia scores showing 70% improvement after the surgery compared to presurgical scores. This is the first report of a genetically confirmed case of DYT11 in Japan. This paper together with other recent reports collectively demonstrates that DYT11 patients are distributed worldwide, including Asia. Thus, a diagnosis of DYT11 should be considered when clinicians encounter a patient with childhood-onset myoclonus and/or dystonia with psychiatric symptoms, regardless of ethnic background. 1. Introduction Myoclonus-dystonia is an inherited autosomal dominant movement disorder. Although genetically heterogeneous, most hereditary forms of myoclonus-dystonia are due to mutations in the -sarcoglycan gene (SGCE) [1]. Myoclonus-dystonia caused by the SGCE mutation is classified as DYT11 (OMIM 159900) and characterized by childhood-onset myoclonus, dystonia, and psychiatric symptoms. The psychiatric symptoms are variable, including anxiety, obsessive-compulsive behaviors, and depression. While many patients with DYT11 have been described in Caucasian population, only a few cases have been reported from other populations [2–6]. Here, we describe the first Japanese patient with genetically confirmed DYT11. Although the patient had severe manifestations of motor symptoms, bilateral deep brain stimulation of the globus pallidus internus (GPi-DBS) has successfully alleviated them. 2. Case Report A 42-year-old Japanese woman was admitted to our hospital with complaints of involuntary jerking movements of the trunk and hands. Many of her symptoms appeared in early childhood; these include anxiety, fear, and jerking movements of her hands, which her parents noticed when she was 5 years old. Since then, she has also been easily and intensely startled by abrupt touches and loud sounds. These symptoms have been accompanied by mild torticollis and scoliosis since she was 7 years old, with axial jerks appearing in her teenage years. Furthermore, she developed an extreme fear of
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