An Inherited Problem: A Look at Huntington’s Disease

by Wellness Editor – MH

Most serious illnesses can be blamed a small number of culprits – infectious viruses and bacteria, poor lifestyle choices or certain chemical reactions within the body. Thanks to decades of medical research, many of these diseases can be prevented through proper dietary and lifestyle choices, or at least controlled with medication. Some conditions, unfortunately, are hardwired into the genetic data of certain individuals, making them impossible to prevent and eminently difficult to treat. Huntington’s disease, which strikes vital nerve cells within the patient’s brain, qualifies as one of these dreaded ailments. While medical research has not yet delivered a way to cure or prevent Huntington’s disease, this effects of this condition can be alleviated somewhat through proper medical care.

The Huntington’s Gene

It’s hard to talk about Huntington’s disease without discussing genetics. Each person’s genetic code is stored on 23 types of X-shaped pieces of DNA, commonly referred to as chromosomes. Huntington’s disease appears as a result of a defect on one particular chromosome, known as chromosome 4. Specifically, the problem can be traced back to a repeating chemical code within this chromosome; under normal circumstances, this code should appear between 17 and 20 times in this chromosome’s structure. In patients with Huntington’s disease, this code repeats itself in over 40 separate areas.

Making this defect even more alarming is that Huntington’s disease is an autosomal dominant disorder. In other words, this condition can be transmitted very easily through human genes. Genes are sections of DNA that determine certain characteristics of the human body, such as height and eye color. The human body has two copies of each gene, one inherited from each parent

Defective sections of chromosome are, in effect, defective genes. What makes the Huntington’s gene so dangerous is that, unlike other types of genes, it does not need a copy of itself from the other parent to appear in the patient’s body. Rather, just one copy from one parent enables Huntington’s to gain a foothold inside the brain. Due to this quirk of nature, those with this condition stand a 50 percent chance of passing Huntington’s onto their children.

Symptoms

In some ways, Huntington’s disease behaves very similar to Alzheimer’s and other forms of dementia. The first symptoms of this condition usually surface between the ages of 30 and 40. These initial warning signs can vary from patient to patient, but in many cases they take the form of unexplained shifts in behavior and personality. For example, the patient may become usually cold and distant to loved ones. Huntington’s can also induce severe mood swings, causing the patient to suffer from bouts of anger, aggression, excitement, and antisocial behavior. Additionally, those afflicted with this condition are often victimized by declining sex drives and appetites.

Given that Huntington’s attacks the brain, the patient’s memory also finds itself in the crosshairs of this disease. As the disease progress, Huntington’s sufferers tend to have increasing difficulty with forming and recalling short-term memories (long-term memories, strangely enough, remain largely unaffected), and begin to struggle with concentration, focus and with organizing ideas and thoughts. Furthermore, Huntington’s hinders the brain’s ability to learn new skills and information.

It would be bad enough if the symptoms stopped there, but the reach of Huntington’s disease also cripples the patient’s ability to properly communicate, maneuver fluidly and swallow food. People with advancing cases of Huntington’s frequently move in a clumsy, awkward and uncoordinated manner, and are prone to slurring and staggering through words while talking. The body’s muscles can also squirm, twist and jerk involuntarily. Not satisfied with all of this damage, Huntington’s also targets the patient’s emotional wellbeing, as patients frequently become depressed as the disease grows stronger. In a worst case scenario, the patient may even become suicidal.

The most distressing aspect of Huntington’s disease is its mortality rate. Upon being diagnosed with the disease, patients typically live for about 10 to 25 years before dying. Those who develop this condition at a relatively young age may succumb even faster. If there is one silver lining to Huntington’s disease, it is this; only about 1 in 10,000 Americans (roughly 30,000 people) have this condition, with about another 200,000 at risk of developing Huntington’s at some point in their lives.

Treatment Methods

Since Huntington’s disease is hard coded into a person’s DNA, ridding it from the body is an impossible goal for modern medicine to achieve. As with other incurable conditions, doctors can only focus on treating the symptoms associated with Huntington’s. Given that Huntington’s launches a multi-pronged attack on many areas of the body, this can be a fairly difficult endeavor.

Uncontrolled movements are treated with Tetrabenazine, tablets that are currently the only FDA approved treatment specifically for Huntington’s. If this first option fails, doctors often resort to anti-psychotic medications. While such an approach might appear reckless and highly questionable, these medications can inhibit involuntary muscle movements as a side effect. Of course, it goes without saying that such potent drugs carry a good deal of risk.

Patients are given specific medicines to deal with the mental fallout from Huntington’s, including depression and violent outbursts. As one would expect, antidepressants are used to fight depression, whereas antipsychotic drugs are prescribed to reign in fits of rage and anger. A doctor may also utilize certain mood-stabilizing drugs, such as lithium and anticonvulsants. Like antipsychotic medications, mood-stabilizing drugs can trigger significant side effects in the patient. Lithium, a heavy duty medicine given to those with bipolar disorder, may adversely affect both the kidneys and thyroid.

A different type of strategy is used to address problems with coordination, swallowing and speech. Physical therapy can allow a patient to regain some amount of lost mobility and coordination, whereas speech therapists offer methods for working around damaged facial muscles. Both kinds of therapists often recommend certain devices and tools to make life for easier Huntington’s sufferers. A speech therapist, for example, might suggest a patient use a board with certain pictures to communicate with others.

Huntington’s disease is a horrible burden for those unlucky enough to have it, causing progressively worse symptoms that eventually lead to premature death. While a cure for Huntington’s may never be found, following the appropriate treatment protocol can significantly improve the patient’s quality of life for their remaining years.

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