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- Huntington disease is an inherited disorder which results in death of brain cells. Earliest symptoms include problems in mood and mental abilities and as the disease advances jerky body moments starts appearing. Key symptoms include irritability, apathy, anxiety, and depressed mood. Mostly disease may occur between 30 to 50 years but can also develop early at 20 years of age.
Epidemiology and burden of Huntingto Disease
- Incidence is low with 0.38 cases per 100,000 per year (95%CI: 0.16, 0.94). Lower incidence was reported in the Asian studies compared to Europe, North America, and Australia. (Mov Disord.2012 Aug;27(9):1083-91)
- HD rate in UK population is comparatively high as 5.4 in 1990 (per 100000 populations) which rose to 12.3 in 2010. (J Neurol Neurosurg Psychiatry. 2013 Oct; 84(10): 1156–1160)
Treatment & prevention
- The supportive role of antioxidants in reducing the symptoms of HD in adults has a great promise and advocates a new line of research in future. (Oxid Med Cell Longev.2017;2017:3279061)
- Till date there is no high quality evidence for treatment of HD and also there has been minimal success in identifying the disease modifying therapy. (Curr Neurol Neurosci Rep.2017 Apr;17(4):33)
- Having no sibling in patients with HD might be a risk factor to cause suicide. (Am J Med Genet.1993 Dec 15;48(4):231-3)
- Early stages of HD are associated with disturbances of motion perception as well as the disruptions of visual motor and ocular motor performance. (Mov Disord.2003 Sep;18(9):1027-34)
- In women lifetime alcohol abuse is found to be associated with early onset of HD, however no such correlation was found in men. (J Neurol.2012 Sep;259(9):1824-31)
- Mutations in HTT genes that involve a DNA fragment known as a CAG trinucleotide repeat cause Huntington disease. Increase in size of CAG segment lead to the production of abnormal proteins which causes the disease.