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Background <p>Dopa-responsive dystonia (DRD) encompasses a group of treatable movement disorders with significant clinical and genetic heterogeneity. Despite being treatable, DRD is often misdiagnosed, leading to delays in therapy.</p> Methods <p>This retrospective study aims to describe the clinical and genetic features of seven Egyptian patients from four unrelated families with confirmed DRD. Medical records were reviewed to document clinical data, neuroimaging, and genetic testing.</p> Results <p>We identified six patients with Tyrosine hydroxylase-deficient DRD and one with GTP cyclohydrolase 1 deficiency. The age at onset of initial symptoms ranged from 0.6 to 1.5 years. Universal clinical features included motor delay, weakness, and delayed speech and language development. Neuroimaging findings showed periventricular demyelination in two patients and brain atrophic changes in one. We identified two previously reported variants in the <i>TH</i> gene (c.-70G &gt; A and c.938G &gt; T) and one novel variant in the <i>GCH1</i> gene (c.343 + 1G &gt; A). All patients, except one, showed a complete response to L-dopa therapy within the first six months of treatment.</p> Conclusion <p>This first Egyptian cohort highlights DRD as a treatable yet underdiagnosed cause of dystonia in the Middle East. We report a novel <i>GCH1</i> variant and <i>TH</i>-related type A phenotypes, underscoring the importance of early genetic diagnosis and levodopa therapy.</p>

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Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases

  • 期刊论文

  • 发表日期：

    2026年2月14日

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  • Nihal Almenabawy,
  • Fawzia Amer,
  • Laila Selim,
  • Hebatallah M. Hassaan

摘要

Background

Dopa-responsive dystonia (DRD) encompasses a group of treatable movement disorders with significant clinical and genetic heterogeneity. Despite being treatable, DRD is often misdiagnosed, leading to delays in therapy.

Methods

This retrospective study aims to describe the clinical and genetic features of seven Egyptian patients from four unrelated families with confirmed DRD. Medical records were reviewed to document clinical data, neuroimaging, and genetic testing.

Results

We identified six patients with Tyrosine hydroxylase-deficient DRD and one with GTP cyclohydrolase 1 deficiency. The age at onset of initial symptoms ranged from 0.6 to 1.5 years. Universal clinical features included motor delay, weakness, and delayed speech and language development. Neuroimaging findings showed periventricular demyelination in two patients and brain atrophic changes in one. We identified two previously reported variants in the TH gene (c.-70G > A and c.938G > T) and one novel variant in the GCH1 gene (c.343 + 1G > A). All patients, except one, showed a complete response to L-dopa therapy within the first six months of treatment.

Conclusion

This first Egyptian cohort highlights DRD as a treatable yet underdiagnosed cause of dystonia in the Middle East. We report a novel GCH1 variant and TH-related type A phenotypes, underscoring the importance of early genetic diagnosis and levodopa therapy.