He keeps spazzing! Is it Huntington's disease?
by paisies on April 12, 2017 - 5:35pm
Many things can cause someone to shake, quiver, have muscle spasms… too much caffeine, nerves, low blood sugar, but the thing that seems to always cross my mind is Huntington’s disease. The classic and most well-known sign of Huntington’s disease is Chorea. Chorea is abnormal, involuntary movements seen in patients at onset of 30 to 40 years of age. This symptom is a telltale sign, but may also be miss diagnosing patients.
Huntington’s disease is “progressive cognitive and behavioral changes with hyperkinetic, choreatic involuntary movements…” as stated by Burgunder. The gene responsible for the disease is HTT. Mutation in this gene, located on chromosome 4 at allele 16, causes the CAG repeats to increase from a normal number of 17, to more than 36 CAG repeats. Interestingly, there is a vast amount of phenotypic variation. As a person ages, the CAG repeats decrease, and the likelihood of having offspring with the abnormal number of CAG repeats increases. A patient could consent to have presymptomatic testing done to find out if they have the disease. They could also have the testing done for their fetus between 11 to 13 weeks. A patient interested in testing is generally of European decent and has familial history.
The issue taken with Huntington’s Disease is that age of onset is difficult to establish due to phenotypic variation (presents of chorea), and testing is not always accurate for identifying if it is HD or another related disorder. Some research being done to identify if it is HD is locating SNP’s and finding genetic modifiers. A few genes being used to modify the expression of HTT is MAP3K5 in stress response, GRIN2A and GRIN2B involved in neurotransmission, PGC1a in energy metabolism, and others in response to HTT. Research is fairly new and replication studies are not always successful.
The article, Genetics of Huntington’s Disease and Other Related Disorders, also discusses other disorders (as the name suggests), but I was mostly interested in HD. The reason I chose to research an article related to this disease is because my boyfriend, who is 35, keeps having intense spasms and randomly shakes. It freaks us both out! After reading the article I’ve concluded that I am not a doctor, and he probably drinks too much coffee. Although, you never know… I could try to find a way to see how his MAP3K5 gene interacts with HTT when he is stressed, or just have him schedule an appointment with, you know, a doctor.
Burgunder, Jean-Marc. "Genetics of Huntington's Disease and Other Related Disorders."Drug Discovery Today July 2014: 985-89. ELSEVIER. Web. July 2017.