According to a story from HD Buzz, a recent study has conducted an in-depth investigation into juvenile onset Huntington’s disease. It is quite unusual for this juvenile onset form to appear and the study helps define the distinctive signs and symptoms of juvenile onset Huntington’s. It may also help us understand if some of the treatments for the illness that are in the development pipeline could be useful for younger patients.
About Huntington’s Disease
Huntington’s disease is a heritable disorder that causes brain cells to die. This is a long term, progressive, and ultimately lethal disease that causes severe debilitation over time. The disease is caused by a genetic mutation that affects the HTT gene. It normally appears between 30 and 50 years, but in rare cases is can occur before age 20. Symptoms of Huntington’s may first appear as subtle mood and behavioral changes and loss of coordination. Other symptoms include random movements called chorea, abnormal posture, sleep issues, trouble chewing, swallowing, and speaking, dementia, anxiety, depression, and impulsivity. Nine percent of deaths are the result of suicide. Treatment for Huntington’s disease is symptomatic, with no cure or disease altering therapies available. Most patients die around 15 to 20 years after their diagnosis. To learn more about Huntington’s disease, click here.
The cause of Huntington’s is related to a certain HTT repeating sequence CAG. The more repeats, the earlier symptoms begin. Generally, patients with juvenile onset Huntington’s disease have at least 60 repeats. Unlike in adults, the juvenile form is more likely to present with epilepsy, learning disability, and movement stiffness instead of chorea.
The study found that there appears to be a spectrum of severity in juvenile onset Huntington’s disease, with patients with more than 80 repeats seeing symptoms appear very early in life, often in the first decade. The juvenile forms are generally more aggressive and most children do not survive for long. When the disease begins in the teenage years, symptoms generally tended to resemble the adult form.
Ultimately, these observations will help future researchers understand more clearly how potential treatments could be effective in juvenile onset Huntington’s disease. Understanding the characteristics of this form of the disease is vital for determining whether a therapy is working and when treatment should begin for children with Huntington’s.
Check out the original study here.