Disclosures: Ben Silverman, DO: No financial relationships or conflicts of interest

Case Diagnosis: A 14-year-old boy with rapid-onset dystonia-parkinsonism (RDP)

Case Description or Program Description: A 14-year-old boy with no significant past medical history presented to neurology clinic with 5 weeks of left toe cramping, toe-walking, hypophonia, and decreased speech. He had become unable to run due to gait imbalance. His initial physical exam demonstrated diffuse hypertonia, hyperreflexia, and clonus. Spine and brain magnetic resonance imaging (MRI) were unremarkable. He was prescribed doxycycline for presumed Lyme disease, but returned a week later with worsening bradykinesia and palatal weakness. Targeted genetic testing revealed a pathogenic variant in the ATP1A3 gene, leading to a diagnosis of RDP. Carbidopa-levodopa were trialed with minimal benefit, and clonazepam and trihexyphenidyl were added. Physical, occupational, and speech therapy were delivered 3 times a week and ankle-foot orthoses were prescribed. Botulinum toxin A injections were performed on his thumb abductors and wrist flexors.

Setting: Academic tertiary-care children’s hospital

Assessment/Results: At follow-up 6 months after discharge, the patient displayed significant improvements in gait, tone, and balance. He is currently functionally independent with activities of daily living and has started running again. His biggest limitation is hypophonic speech.

Discussion (relevance): RDP presents with the abrupt onset of dystonia, parkinsonism, and dysarthria in the second to third decade of life, and without treatment, functional outcomes are extremely poor. The parkinsonism in RDP responds poorly to carbidopa-levodopa alone. Early recognition of this syndrome and initiation of treatment may help improve long term functional status. However, given the rarity of the disease, evidence is limited and more studies are needed.

Conclusions: There are no specific treatments for ATP1A3-related syndromes; however, the combination of intensive rehabilitation, orthotics, and pharmacologic agents including oral medications and botulinum injections appears to allow patients to live at a higher functional level.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/rare-cause-of-rapid-onset-dystonia-parkinsonism-in-a-previously-healthy-adolescent-a-case-report/