Abstract
BACKGROUND: Myoclonus-dystonia syndrome (MDS) is a genetic movement disorder with childhood-onset, most frequently caused by SGCE defects. OBJECTIVE: To evaluate the diagnostic and treatment strategies in MDS used by experts from the European Reference Network for rare neurological diseases (ERN-RND), and to assess the diagnosis and management experience in patients with MDS. METHODS: Two different questionnaires were distributed: one among neurologists from ERN-RND, and another among patients and families with SGCE-related MDS. RESULTS: Twenty-nine adult and child neurologists from 14 countries, and 84 patients and caregivers from 12 countries, replied to the surveys. All the patients included in the analysis had SGCE-related MDS. The mean age was 30.8 years (SD 19,9; range 3-75). Sixty-nine percent of patients were diagnosed in childhood and 70% had a positive family history. Most participants suffered from predominant upper body myoclonus and focal/segmental dystonia, hindering daily activities in 80% of patients, such as handwriting, drinking, feeding, walking and speech. Botulinum toxin and DBS were effective options for managing movement disorders compared to pharmacological treatments. However, neither of these therapies were applied optimally. We found deficiencies in recognition and management of academic difficulties, and a high unemployment rate. Despite all but one patient reported psychiatric symptoms such as anxiety, depression or OCD, there was a lack of formal psychiatric evaluations. CONCLUSIONS: SGCE-MDS is a well-known neurological disorder among movement disorder specialists in Europe. Offering a multidisciplinary approach that tackles both movement disorders and neuropsychiatric comorbidities could enhance the diagnosis and treatment of patients with SGCE-MDS.