Objective: We describe and demonstrate by video a young man with rapid onset dystonia parkinsonism who has a robust response to levodopa.

Background: Rapid onset dystonia parkinsonism (RODP) was first described by Dobyns et al. in 1993. This disease is notoriously resistant to treatment with medications and GPi DBS. Treatment with these agents have been unsatisfactory. Treatment with levodopa has not been helpful in improving dystonia or parkinsonism in patients with RODP.

Methods: Case Report.

Results: A 16-year-old boy awoke with a sudden onset of dysarthria and global motoric slowing. He had cranial masking with a risor grin. He was unable to use the fingers of the right hand and had slowing of left hand movements. His 3rd, 4th and 5th fingers of the right hand were clenched and he has dystonic ulnar deviation of the right wrist. Tone was asymmetrically increased in the right extremities. His gait was slow and shuffling. Arm swing was depressed on the left. He was unable to run. MRI of the brain and EMG were normal. Genetic testing revealed a mutation in the ATP1A3 gene, c2122G>A (p.Gly708 Ser). After starting carbidopa/levodopa, the patient had a noticeable improvement in dysarthria, cranial masking and risor. His voice was louder and articulation was clearer. While he continued to have dystonic ulnar deviation and right handed finger clenching, rapid movements of his hands improved. He also had improvement in the tone of his arm. His gait was quicker and he was able to run.

Conclusions: We report an unusual case of levodopa responsive RODP. The patient had a robust response to levodopa resulting in an improvement in cranial masking, speech and gait. This medication responsiveness is encouraging and suggests that patients with newly diagnosed RODP warrant a trial of treatment with levodopa. This case report was presented at the 2017 American Neurological Association annual meeting on July 24, 2017.

References: Dobyns, W. B., Ozelius, L. J., Kramer, P. L., Brashear, A., Farlow, M. R., Perry, T. R., . . . Breakefield, X. O. (1993). Rapid-onset dystonia-parkinsonism. Neurology, 43(12), 2596-2602. Geyer, H. L., & Bressman, S. B. (2011). Rapid-onset dystonia-parkinsonism. Handb Clin Neurol, 100, 559-562. doi:10.1016/B978-0-444-52014-2.00040-9.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-case-of-levodopa-responsive-rapid-onset-dystonia-parkinsonism/