Study highlights symptom evolution in rapid-onset dystonia-parkinsonism

Rapid-onset dystonia-parkinsonism (RDP) shows a highly variable progression of motor and nonmotor symptoms over time, with some symptoms, such as seizures and tremors, improving in a subset of patients, while others, like headaches, persist without improvement, according to a study.

In the study, researchers analyzed data from 14 individuals with ATP1A3 mutations with an average of 5.5 years between evaluations. Participants had a mean age of onset at 20 years.

At onset, all patients presented with bulbar symptoms, while 50% experienced headaches, 31% had seizures, and 36% displayed tremors. Over time, new occurrences of headaches, seizures, and tremors emerged in 29%, 22%, and 56% of patients initially without these symptoms, respectively. No patients with headaches improved while seizures resolved in 25% and tremors in 80% of cases.

Functional assessments showed modest improvement, with reductions in dystonia and ataxia severity scores. Cognitive abilities improved from mildly impaired to low-average, and psychiatric evaluations found reduced depression levels and slight increases in obsessive-compulsive behaviors.

Reference
Haq IU, Napoli E, Snively BM, et al. Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time. Parkinsonism Relat Disord. 2024;131:107254. doi: 10.1016/j.parkreldis.2024.107254. Epub ahead of print. PMID: 39731885.