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Segawa disease
K Phanthumchinda1, M Vichichanyakul, P Yodnophaklao
1Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Insights
Segawa disease, a form of treatable dystonia, can cause severe disability in children. Early L-dopa treatment offers a dramatic and sustained response, improving daily living activities.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Segawa disease, a rare genetic disorder, presents with progressive dystonia.
- Symptoms include diurnal fluctuations and significant disability, impacting daily life.
- The case involves a 14-year-old female with disease onset at age three.
Abstract:
A 14-year-old girl with Segawa disease is reported. The dystonic movement began at the age of three and slow progressive deterioration followed. The girl became bed-ridden and required assistance for all activities of daily living. Diurnal fluctuation and sleep benefit was clearly observed. Inheritence appears to be autosomal dominant. A dramatic, immediate and sustained response to L-dopa therapy was noted. This disorder is a form of treatable dystonia in childhood and adolescence and it is recommended that patients in this age group with primary dystonia should be given a trial of low dose L-dopa even though they have a chronic course or severe disability.