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Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

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Segawa Syndrome, a Dramatic Response to Dopamine.

Omkar Dhungel¹, Amit Shrestha¹, Pawan Sharma¹

¹Department of Psychiatry, Patan Academy of Health Sciences, Lagankhel, Lalitpur, Nepal.

Case Reports in Neurological Medicine

|April 9, 2024

Summary

Segawa syndrome, or dopamine-responsive dystonia, presents as gait disturbance and hypertonia. Early diagnosis and levodopa treatment are crucial for managing this genetic disorder.

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Published on: August 10, 2012

Area of Science:

Neurology
Genetics

Background:

Segaya syndrome, also known as dopamine-responsive dystonia (DRD), is a neurological disorder characterized by dystonia and gait disturbances.
It is often misdiagnosed as spasticity and should be considered in children with unexplained hypertonia.

Observation:

A 45-year-old female presented with early-onset dystonia, primarily affecting lower limbs, leading to postural instability and gait impairment.
The patient exhibited a significant response to levodopa treatment, with subsequent deterioration upon noncompliance.

Findings:

The case highlights an autosomal recessive inheritance pattern of Segawa syndrome.
Clinical diagnosis is supported by cerebrospinal fluid pterin levels and GTP cyclohydrolase-1 (GCH1) gene mutation analysis.

Implications:

This case underscores the importance of considering DRD in patients with unexplained dystonia, especially with a positive family history.
Levodopa responsiveness is a key diagnostic feature, and patient compliance is vital for sustained therapeutic benefits.