Clinical characteristics of dopa ⁃ responsive dystonia

Abstract

Objective To assess the clinical features and therapeutic principle of patients with dopa⁃responsive dystonia (DRD). Methods Patients with DRD from March 2005 to July 2010 in the Department of Neurology, West China Hospital, Sichuan University were studied and followed up by visiting or phone. Results Twenty⁃one DRD patients with 4 males and 17 females were included in the study. The mean age of onset was (7.19 ± 3.40) years. The mean delayed time was (13.76 ± 11.38) years. Limb dystonia was the initial symptom of all patients. Clinical symptoms of 20 patients (95.24%) presented diurnal fluctuation. Six patients (28.57%) presented parkinsonian symptoms and 2 patients (9.52%) presented spastic paraplegia with the development of disease. All patients had a good respons to low dose of levodopa. Eighteen patients were followed up, but only one patient had disability due to delayed diagnosis and treatment. The mean maintenance dosage of levodopa was (175.35 ± 113.51) mg/d. There were 3 patients with adjunctive treatment of trihexyphenidyl. Conclusion Limb dystonia occurring at childhood is the initial symptom of patients with DRD. Trying low dose of levodopa treatment for children with dystonia or young patients with parkinsonian symptoms may avoid misdiagnosis.

DOI：10.3969/j.issn.1672-6731.2011.01.019