[Rapid-onset dystonia-parkinsonism: sporadic form]

The rapid-onset dystonia-parkinsonism is a movement disorder which associates dystonic symptoms, especially those affecting orofacial muscles, and parkinsonian symptoms. All these symptoms start suddenly and then they stabilize along the process. This disorder usually occurs to young adults and is an autosomal dominant trait with a reduced penetrance, although some sporadic cases have been reported. The genetic alteration is found on the chromosome 19q13, where the mutated gene ATP1A3 has been identified. This gene is linked to the regulation of the sodium-potassium pump.

A 16-year-old woman developed a sudden onset of dystonic symptoms which affected her higher and lower limbs, bulbar muscles, together with severe dysarthria and dysphagia. The onset occurred over hours, but her symptoms have been stabilized for years. No movement or other neurological disorders are reported in her family history.

This is probably a sporadic case of rapid-onset dystonia-parkinsonism, and it is the second one reported in Spain. Diagnostic criteria, differential diagnosis, etiopahogenesis and genetic alterations are also discussed.