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Myoclonus-dystonia due to mutations (OMIM 15990 most commonly presents during childhood with mainly upper body myoclonus, and mild dystonia affecting the neck and arms. Herein, we report patients misdiagnosed during childhood with Tourette syndrome and dyskinetic cerebral palsy, and, during adulthood, found to harbor frameshift mutations. Myoclonus-dystonia may be underdiagnosed due to phenotypic misclassification during childhood. mutations should be included in the differential diagnosis of childhood movement disorders that ostensibly m
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