Segawa Syndrome is a rare dystonia that shows a dramatic response to oral levodopa.
Chromosome location: 14q22.2 (autosomal dominant); 11p15.5 (autosomal recessive)
Product: guanosine triphosphate cyclohydrolase I (GTPCH1)
Inheritance: autosomal dominant or autosomal recessive
Clinical features:
(1) The onset is during childhood (from 1 to 12 years of age).
(2) The first symptom is usually a limb dystonia.
(3) A Parkinsonism and generalized dystonia develop later (progressive).
(4) There is often a diurnal variation with worse symptoms in the evening and improvement in the morning after sleep.
(5) The patient shows a dramatic response to oral levodopa.
Variable findings:
(1) equinovarus with abnormal gait
(2) dysphagia
(3) torticollis (cervical dystonia)
(4) postural tremor
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Specialty: Neurology, Pharmacology, clinical