Huntington's Disease is a neurodegenerative disease that causes neurons to break down. The symptoms of Huntington's Disease are uncontrollable movements, abnormal body posture, behavior, emotion, thinking, and personality problems.(National Institute of Neurological Disorders and Stroke) These symptoms appear in middle aged people but can appear in children. Chorea or unpredictable muscle movement can increase the chance of falling. Although Huntington’s Disease begins with mild clumsiness, balance issues, cognitive issues, and psychiatric issues as the disease develops new symptoms appear. Other symptoms of Huntington’s Disease include tremor, dystonia, and akinesia. Dystonia is known as unusual fixed or unchanging postures. Akinesia is rigidness or stiffness and very little or no movement.
Huntington’s Disease is a inherited disease that has the potential to be carried over from parent to child like all inherited diseases. When a parent has HD, each child has a 50% chance of inheriting the copy of chromosome 4 that carries the HD mutation.(National Institute of Neurological Disorders and Stroke) If the child doesn’t inherit the disease they will not pass it on to their children.
The diagnosis of Huntington's Disease can happen in many ways. There are neurological exams, diagnostic imaging, and genetic tests. Exams include interview, history check, physical exams, and laboratory tests. Another way individuals get diagnosed is by visiting neuropsychologists, speech pathologists, psychiatrists, or genetic counselors for specialized management and support diagnosis . Diagnostic imaging like CT or MRI can reveal changes in the structure of the brain. Finally genetic tests can confirm the metric that shows the presence of the disease. This metric is a repeating CAG in HD gene and 26 or fewer repetitions indicates Huntington’s Disease is not present. (National Institute of Neurological Disorders and Stroke)
The symptoms of Huntington’s Disease are treated with drugs tetrabenazine, deuterabenazine, and antipsychotics. Chorea is treated with tetrabenazine and deuterabenazine. Antipsychotics can help treat chorea as well as hallucinations, delusions, and violent outbursts. Some side effects can make things worse for Huntington Disease individuals.
Research is underway for Huntington’s Disease. Biomarkers are being used to correlate many metrics and data on the human body and mind to determine the progression of the disease. Stem cell research is also taking place to understand and develop new drugs. New imaging is talking place to also understand Huntington’s Disease. Studies are also taking place in the developing brain and how it influences later brain stages with Huntington’s Disease. With continuing research we can hope for more treatment options that are specialized to individuals suffering from Huntington's Disease. (National Institute of Neurological Disorders and Stroke)
Citation:
National Institute of Neurological Disorders and Stroke. “Huntington’s Disease.” National Institute of Neurological Disorders and Stroke, National Institute of Neurological Disorders and Stroke, 20 Jan. 2023, www.ninds.nih.gov/health-information/disorders/huntingtons-disease#:~:text=What%20is%20Huntington. Accessed 19 Sept. 2024.