Rapid-onset dystonia-parkinsonism also known as DYT12-ATP1A3 is an extremely rare neurological disease. Patients develop dystonia, bradykinesia, postural instability, dysarthria, and dysphagia. Injection of botulinum toxin is the first-choice treatment for focal dystonia. We report the case of a 14-year-old patient diagnosed with rapid-onset dystonia-parkinsonism who was scheduled for injection of botulinum toxin in his upper limbs under general anesthesia. To our knowledge, there is no previous report about the anesthetic management of patients with rapid-onset dystonia-parkinsonism.
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Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time.
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Science for Life Laboratory, Department of Women's and Children's Health, Karolinska Institutet, Solna, 171 21, Sweden.
Mutations in the gene encoding the alpha3 Na+/K+-ATPase isoform (ATP1A3) lead to movement disorders that manifest with dystonia, a common neurological symptom with many different origins, but for which the underlying molecular mechanisms remain poorly understood. We have generated an ATP1A3 mutant mouse that displays motor impairments and a hyperexcitable motor phenotype compatible with dystonia. We show that neurons harboring this mutation are compromised in their ability to extrude raised levels of intracellular sodium, highlighting a profound deficit in neuronal sodium homeostasis.
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