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Disabling Head Tremor in a Patient with DYT1 Mutation
Jae-Hyeok Lee1, Dae-Seong Kim1, Jae-Wook Cho1
1Department of Neurology, Medical Research Institute, Pusan National University School of Medicine, Yangsan, Korea.
Journal of Movement Disorders
|May 29, 2014
Summary
DYT1 gene mutations can cause head tremor, often alongside cervical dystonia. This case highlights severe head tremor in a patient with a DYT1 GAG deletion and generalized limb dystonia.
Area of Science:
- Genetics
- Neurology
- Movement Disorders
Background:
- Dystonic head tremor is a recognized symptom in some individuals with the DYT1 mutation.
- However, isolated head tremor without significant cervical dystonia is infrequently documented.
Purpose of the Study:
- To report a case of severe head tremor associated with a specific DYT1 gene mutation.
- To describe the clinical presentation in the context of generalized limb dystonia.
Main Methods:
- Clinical case report.
- Genetic analysis identifying a 3-bp GAG deletion (904_906delGAG) in the DYT1 gene.
Main Results:
- The patient presented with severe head tremor.
- The tremor occurred within the context of generalized limb dystonia.
- Genetic testing confirmed the 904_906delGAG mutation in the DYT1 gene.
Conclusions:
- This case expands the understanding of DYT1-related movement disorders.
- It emphasizes that severe head tremor can be a prominent feature, even with generalized dystonia, in patients with the DYT1 GAG deletion.
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