Genetic Testing for Huntington's Disease: Would You Get Tested if Your Father had it?

Clinical Symptoms of Huntington's Disease

If Your Father Had Huntington's Disease And You Had The Opportunity To Be Tested For The Mutation, Would You Get Tested? Why Or Why Not?

Huntington’s disease is an autosomal dominant disorder and it has several clinical symptoms such as jerking (involuntary) movements, muscle rigidity or contracture, balance, posture, impaired gait, muscle problems, abnormal eye movements. There are problems with motor speech and swallowing issues exists as well. Overall, the symptoms can be divided into are muscle movement problems, eye movement problems, muscle tone problems and speech problems which causes immense problems in the activities of daily life as well as in the execution of motor actions for daily day to day actions. As it is an autosomal dominant disorder, there are very high chances that the genes can be inherited to the progeny, as there is no carrier stage involved in the process (Craufurd, Thompson & Snowden, 2018). As Huntington’s disease is an autosomal disease and just one of the partner has Huntington’s disease and the other partner is normal, there are fifty per cent chances that the progenies that their children might have or be affected with Huntington’s disease (Benraiss et al. 2016). And if both the parents are having the genes for Huntington’s, which means both of them are dominant, then all their children, irrespective of genders will be Huntington’s dominant, which means they will have the Huntington’s disease. It is to be noted that Huntington’s disease is not an allosomal or an X-linked disease and the occurrence of the disease does not depend on the genders of the children (Cubo et al., 2016). With someone with Huntington’s disease, the family has to go through a lot of medical and nursing attention for that individual and it is very important that the diagnosis of the disease is done from an early stage so that the interventions can begin as soon as possible so that the cases are managed in a pertinent manner. Family education and mental health counselling is also required. Hence, genetic testing becomes a very important tool in order to diagnose and assess the first stages and the second stages of Huntington’s disease.

The genetic testing is very important for diagnosis of Polymerase Chain reaction, electrophoresis, Southern blotting which are very critical and important for the diagnosis of Huntington’s disease (Johnson et al., 2018).  If my father has Huntington's disease and if I had the opportunity to be tested for mutation, I would be undertake the genetic testing for Huntington’s disease.

It is important to be safe and if my father is autosomal dominant, then fifty per cent are the chances their children, irrespective of genders will be Huntington’s dominant, which means they have at least 50 per cent chance of having Huntington’s disease. Hence it is very important that I, as a son of a Huntington’s disease parent, get myself genetically tested as because my mother, do not have Huntington’s disease but there remains at least fifty per cent of chance to have the disease.  Early genetic detection would help in early intervention planning and initiation of the clinical interventions to manage the speech, motor and other muscle problems as soon as possible, is extremely important. That is why, the genetic testing becomes very important. 

References

ChromewBenraiss, A., Wang, S., Herrlinger, S., Li, X., Chandler-Militello, D., Mauceri, J., Burm, H.B., Toner, M., Osipovitch, M., Xu, Q.J. & Ding, F., (2016). Human glia can both induce and rescue aspects of disease phenotype in Huntington disease. Nature communications, 7, p.11758.

Craufurd, D., Thompson, J.C. & Snowden, J.S., (2018). Behavioral Changes in Huntington Disease. Cognitive and behavioral neurology: official journal of the Society for Behavioral and Cognitive Neurology, 31(1), p.26.

Cubo, E., Ramos-Arroyo, M.A., Martinez-Horta, S., Martínez-Descalls, A., Calvo, S. & Gil-Polo, C., (2016). Clinical manifestations of intermediate allele carriers in Huntington disease. Neurology, 87(6), pp.571-578.

Johnson, E.B., Byrne, L.M., Gregory, S., Rodrigues, F.B., Blennow, K., Durr, A., Leavitt, B.R., Roos, R.A., Zetterberg, H., Tabrizi, S.J. & Scahill, R.I., (2018). Neurofilament light protein in blood predicts regional atrophy in Huntington disease. Neurology, 90(8), pp.e717-e723.