Huntington’s Disease - Challenges in Early Diagnosis and Screening

Background: Huntington's disease (HD) is a rare neurodegenerative disorder with a global prevalence of 2.7 per 100,000, though this rate can vary significantly across different regions [1]. These variations are often due to differences in diagnostic criteria and methods of case identification. Genetic counseling and predictive testing are available for asymptomatic adults at risk of HD, allowing them to make informed decisions regarding caregiving, financial planning, and reproduction. Early identification of genetic risk also opens the door to participation in clinical trials. Ideally, discussions around genetic risk and prenatal testing should occur before pregnancy to optimize planning and decision-making. In developing countries like the Republic of Moldova, genetic testing for HD is accessible; however, the lack of a population-wide screening program and clinical guidelines hinders the early identification and diagnosis of at-risk families. Without such a systematic approach, many individuals carrying the genetic mutation may remain undiagnosed until symptoms appear, limiting their options for early intervention and participation in preventive measures. Purpose: This study aims to highlight the need for a population-wide screening program and comprehensive management guidelines for Huntington's disease to improve early diagnosis and patient care in developing countries. Method: We present a case report of a 40-year-old female who initially consulted a neurologist due to fatigue, uncontrolled hand movements, difficulty walking, and speech impairment. Her paternal grandmother and uncle both passed away from Huntington's disease, though the diagnosis was based on clinical symptoms rather than confirmed through genetic testing. After genetic counseling and HTT gene testing, Huntington's disease was confirmed. Results: Patient’s diagnosis was confirmed only after the symptoms onset at the age of 40 due to the lack of a screening database of her HD family history. Conclusion: The delay in diagnosing Huntington's disease in this patient highlights the critical need for a comprehensive screening program and a centralized database for family histories of genetic conditions. Early identification and intervention could be significantly improved if systematic approaches and resources were in place to facilitate timely diagnosis based on family history.