Objective: This study evaluates patient data from individuals with Huntington’s disease who attended our single tertiary center.

Background: Huntington’s disease is an inherited neurodegenerative disorder caused by an expanded trinucleotide repeat, typically manifesting after the age of 40. It is characterized by involuntary movements, personality changes, and cognitive impairment.

Method: We conducted a retrospective analysis of patients with Huntington’s disease who underwent genetic counseling and testing at the Laboratory of Medical Genetics, UMHAT “St. Marina,” Varna, over a 20-year period (January 2004 – December 2024). Epidemiological data for all patients were collected and analyzed.

Results: A total of 43 patients tested positive for Huntington’s disease during the study period. The majority (81%) were referred for genetic counseling by a neurologist due to clinical suspicion, while the remaining patients were tested after evaluation by a genetic counselor. Of the cohort, 24 were women (56%) and 19 were men (44%). The mean age at testing was 47 years, while the mean age of symptom onset was 43 years. This indicates an average diagnostic delay of four years [figure1]. The average number of CAG repeats was 44.6, and 33 patients (77%) had a positive family history of Huntington’s disease. Interestingly, two patients exhibited symptoms despite having repeat numbers below 40—specifically, 38 and 39. Mild to moderate cognitive impairment, as assessed by the Mini-Mental State Examination, was observed in 31 patients (72%). Additionally, 31 patients (72%) exhibited psychiatric symptoms, though the majority (28 patients, 65%) described themselves as independent in daily activities [figure2].

Conclusion: Our findings illustrate a diagnostic delay between symptom onset and genetic confirmation, despite most patients having a positive family history. This delay may be attributed to the increased availability of genetic testing in our country over the past decade. Improving awareness among healthcare professionals and expanding access to genetic counseling could facilitate earlier diagnosis and intervention, ultimately improving patient outcomes and quality of life.

Figure 1: Diagnostic delay according to age.

Figure 2: Symptoms and functional status.

« Back to 2025 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/huntingtons-disease-overview-from-20-years-of-a-single-center-experience/