Huntington's Disease – Genetics&Birth Defects Example

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"Huntington's Disease" is a wonderful example of a paper on genetics and birth defects. Huntington's disease refers to an inheritable disorder that occurs when nerve cells within given brain parts degenerate or waste away. Individuals are sometimes born with a gene that is defective; however, symptoms generally do not appear till individuals reach middle age. Development of the Disease There are a number of early symptoms like balance problems, uncontrolled movements, as well as clumsiness. During the latter stages, HD is capable of taking away the capacity to talk, walk, or swallow things.

In other cases, some individuals usually stop recognizing their family members when they are suffering from this condition. However, other individuals are usually aware of the environments in which they are and besides, they are capable of expressing their emotions (Rosenblatt et al. , 1999). Individuals having the disease may develop spontaneous jerking movements referred to as chorea and as it progresses, the movements will be more pronounced. Moreover, individuals who are affected may bring about personality changes, and their reasoning and thinking capacities decline (Pollard et al. , 1999). Treatment Huntington's disease cannot be cured and besides, it is impossible to prevent the disease from being worse.

The major treatment aim is to retard the symptoms and also to aid the individual to be stable for long and also to be very comfortable. Medications are given to individuals suffering from the disease usually vary and this depends on the symptoms. Dopamine blockers are capable of reducing abnormal behaviors as well as movements. In addition, drugs like  amantadine  as well as tetrabenazine may be applied in controlling extra movements. Co-enzyme Q10 is also believed to be able to help in slowing down the disease (Paulsen, 1999). Survival Chances As noted before, Huntington's disease cannot be cured, and besides, there are has no cases of spontaneous remission.

Some individuals live very long as well as productive lives with the disease while some of them are affected more profoundly.


Paulsen, J.S. (1999). Understanding Behavior in Huntington’s Disease. NY: Huntington’s

Disease Society of America.

Pollard J; Best R; Imbriglio S; Klasner E; Rubin A; Sanders G; Simpson W. (1999)

A Caregiver’s Handbook to Advance-Stage Huntington’s Disease. NY: Huntington’s Disease Society of America.

Rosenblatt A; Ranan NG; Nance MA; Paulsen J. (1999). Physician’s Guide to the Management

of Huntington’s Disease (Second Edition). NY: Huntington’s Disease Society of America.

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