Objective: To describe a rare case of adult-onset HD that presented with early-onset cervical dystonia as the only and prominent symptom.

Background: Except for chorea, dystonia is also recognized as part of HD motor phenotype. Dystonia appears most prominent in patients with juvenile HD and longer CAG repeat length, whereas other studies showed a high prevalence of dystonia in adult-onset HD patients in later disease stage and longer motor disease duration, with worsening dystonia severity with increasing HD disease stage and motor disease duration.

Method: A 52-year-old woman first noted the onset of prompt, repeated involuntary movement of her neck 25 years ago. She has also been undergoing psychiatric treatment for the past 15 years. Considering the anamnestic information about her deceased mother who was treated with antipsychotics under the diagnosis of paranoid psychosis and had hyperkinesias that were understood as tardive syndrome, HD was suspected in our patrient. Genetic testing was performed.

Results: Patient’s DNA analysis confirmed HD mutation containing 42 CAG repeats. After treatment with botulinum toxin, her motor symptoms improved.

Conclusion: This case illustrates an atypical clinical course of adult HD in a female patient whose initial and prominent symptom is cervical dystonia with early onset underlying marked phenotypic variability of HD. HD should be considered in patients with early-onset dystonia unable to be explained. The further investigation should be focus on the relationship between cervical dystonia and HD, especially at the level of pathophysiology and genetic etiology.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cervical-dystonia-with-early-onset-as-initial-manifestation-of-adult-onset-huntingtons-disease/