J Mov Disord.
2025 Jan;18(1):17-30. 10.14802/jmd.24232.
A Practical Guide for Diagnostic Investigations and Special Considerations in Patients With Huntington’s Disease in Korea
- Moon J
1,2 - Oh E3,4
- Kim M5
- Kim R6
- Yoo D7
- Shin C4,8
- Lee JY6
- Kim JM9
- Koh SB10
- Kim M1
- Jeon B1
- on behalf of the Korean Huntington’s Disease Society1
- Affiliations
-
- 1Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
- 2Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
- 3Department of Neurology, Chungnam National University Hospital, Daejeon, Korea
- 4Department of Neurology, Chungnam National University College of Medicine, Daejeon, Korea
- 5Department of Neurology, Gyeongsang National University Hospital, Jinju, Korea
- 6Department of Neurology, SMG-SNU Boramae Medical Center, Seoul National University College of Medicine, Seoul, Korea
- 7Department of Neurology, Kyung Hee University Hospital, Kyung Hee University School of Medicine, Seoul, Korea
- 8Department of Neurology, Chungnam National University Sejong Hospital, Sejong, Korea
- 9Department of Neurology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea
- 10Department of Neurology, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Korea
- KMID: 2564042
- DOI: http://doi.org/10.14802/jmd.24232
Abstract
- This review provides a comprehensive framework for the diagnostic approach and management of Huntington’s disease (HD) tailored to the Korean population. Key topics include genetic counseling, predictive testing, and reproductive options like preimplantation genetic testing. Strategies for assessing disease progression in premanifest HD through laboratory investigations, biofluid, and imaging biomarkers are highlighted. Special considerations for juvenile and late-onset HD, along with associated comorbidities like diabetes mellitus, hypertension, and cardiovascular abnormalities, are discussed. The guide emphasizes personalized symptom management, including pharmacotherapy, physical therapy, and nutritional support, while exploring emerging disease-modifying treatments. A multidisciplinary care model is advocated to improve outcomes for HD patients and caregivers in Korea.
