Myoclonus-dystonia syndrome (MDS) is a genetic movement disorder with childhood-onset, most frequently caused by SGCE defects. For this survey two different questionnaires were distributed: one among neurologists from ERN-RND, and another among patients and families with SGCE-related MDS.
Offering a multidisciplinary approach that tackles both movement disorders and neuropsychiatric comorbidities could enhance the diagnosis and treatment of patients with SGCE-MDS.
PAPER
Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey
Vanegas MI, Marcé-Grau A, Cazurro-Gutiérrez A, Hamami F, Timmers ER, Weißbach A, Tijssen MAJ, González V, Miguel LD, Martin M, Benson M, Reinhard C, Pérez-Dueñas B. Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey. Mov Disord Clin Pract. 2025 Mar 15. doi: 10.1002/mdc3.70028. Epub ahead of print. PMID: 40088059.