Patients with the earliest onset of the disease tend to present with focal dystonia that usually generalizes within six years. Parkinsonism later develops in most cases. Late-onset cases can present with Parkinsonian features without dystonia. Routine laboratories, CT, and MRI are usually normal. PET may reveal nigrostriatal abnormalities.
Mortality is usually due to associated dysphagia and aspiration pneumonia.
Pathology Autopsies have shown neuronal loss and multifocal mosaic astrocytosis of the caudate and lateral putamen. Interestingly, Lewy bodies are not prominent, as in idiopathic Parkinson's disease. Botulinum toxin is used for focal dystonia. The mainstay of treatment is physical therapy for improvement of gait and maintenance of range of motion.