Huntington’s disease (HD) is an inherited neurological disorder i n which nerve cells in parts of the brain gradually break down and die. doctors can treat some of its symptoms and researchers are investigating therapies aimed at slowing or preventing the underlying disease process While there is currently no cure. Here’s all you need to know about it.
What is Huntington’s disease? Huntington’s disease is caused by a change in the HTT gene, which carries instructions for producing the huntingtin protein. The abnormal gene contains excessive repetitions of a three-base DNA sequence called CAG (Cytosine, Adenine, and Guanine). As the condition progresses, people may develop problems with speech, swallowing and eating. Difficulty eating and swallowing can lead to weight loss, choking and lung infections. Other physical symptoms include fatigue, low energy, sleep problems and, in some cases, seizures.
Most people have fewer than 27 CAG repeats and are not at risk of developing HD, according to information from the National Institutes of Health (NIH). Those with 27 to 35 repeats are unlikely to develop the disease but may be able to pass an expanded repeat to their children. People with 36 or more repeats may have the disease-causing expansion.
Researchers say Sandi could eventually help track disease progression and assess whether treatments are protecting brain cells, but larger, longer-term studies are needed before it can be used clinically. Antipsychotic medicines, including risperidone and olanzapine, may help reduce chorea as well as psychiatric symptoms such as severe irritability, unusual thoughts or hallucinations. However, some antipsychotic medicines can worsen movement-related symptoms, so doctors need to monitor patients and adjust treatment where necessary. Medicines can also be used to treat depression and anxiety. Treatments may have side effects such as tiredness, sleepiness, difficulty concentrating, restlessness or increased activity. Beyond managing symptoms, research is increasingly focused on finding ways to alter the underlying disease.
The measurements were also linked to disease severity and motor performance, and in some striatal regions helped explain up to 63% of observed brain shrinkage.
