Huntington's+disease

Huntington's Disease


 * 1) 1 Who first discovered this disorder? Where, when and under what circumstances was it discovered?

Huntington's disease was first recognized in 1872 by George Huntington, of whom which the disorder was named after. However, this hereditary disease and gene weren’t officially discovered until 1933 because that is when a group of scientists discovered the gene that induced it.

#2 What are the symptoms/characteristics associated with this disorder? At what age do the symptoms begin? Are the symptoms treatable? If so, how? Is the disorder fatal?  Huntington's disease typically occurs between the ages of 30 and 50; however, the symptoms can begin even earlier, around the age of 2, or even around the late age of 80. Some of the symptoms of Huntington's disease include uncontrollable movement, posture imbalances, difficulty swallowing, speech impairment, muscle contractions, lack of awareness, lack of impulse and acting without thinking. Most symptoms are treatable with modern day medication; however, this disease can be fatal.

#3 What is the inheritance pattern of the disorder: dominant, recessive, sex-linked, autosomal, other?

Huntington's disease is an autosomal dominant disorder. This indicates that either the male or female only require one defective gene to inherit it. However, if the gene is recessive then both parents are obligated to hold this gene in order for the trait to be passed on.

#4 Are there any environmental factors that can affect the symptoms (either aggravate or alleviate)?



There are several prescriptions tha t can be directed to you by your physician to further alleviate the symptoms of Huntington's disease (HD). For instance, nortriptyline and fluoxetine are used as antidepressants, and tetrabenazine is utilized for the involuntary movements induced by HD. Physical, occupational, and speech therapy can help a subject of HD regain their strength and help them better communicate with others. However, if they have this disease, they have to make sure to try and stay away from certain foods because they have difficulty swallowing and/or getting the proper nutrition.

#5 How common is the disorder? Does it occur more frequently in certain parts of the world or in certain ethnic groups or in one sex?



This disorder is somewhat uncommon; however, it is less common in other areas of the world such as China, Africa, and Japan. People have about a 50% risk of inheriting the Huntington's Disease gene and around 25% of people who have actually inherited the condition. Although, both males and females are equally at risk.

#6 What tests are done to confirm a diagnosis of this disorder?



To officially diagnose HD a doctor will examine the patient and ask about some of their more recent symptoms. Next, if they refer the patient, a neurologist will concur an imaging test, like an MRI scan, or a CT scan to better identify any abnormal changes in their brain in order to confirm the disorder.

#7 Which chromosome(s) is responsible for this disorder? Is it caused by a gene mutation? Which gene is involved? Is it caused by a chromosomal mutation? Which type: nondisjunction, deletion, inversion, etc.?  

Huntington's disease is caused by a gene mutation in chromosome number 4. A gene called the HTT gene is involved and it is in fact caused by a chromosomal mutation. Huntington's Disease is an example of insertion.

<span style="background-color: #ff00ff; color: #ffffff; font-family: &#39;Happy Monkey&#39;; font-size: 24pt; vertical-align: baseline;">Work Cited! <span style="font-family: &#39;Happy Monkey&#39;; font-size: 12pt; vertical-align: baseline;"> ~ <span style="color: #1155cc; font-family: &#39;Happy Monkey&#39;; font-size: 11pt; vertical-align: baseline;">[]

<span style="font-family: &#39;Happy Monkey&#39;; font-size: 11pt; vertical-align: baseline;"> ~ <span style="color: #1155cc; font-family: &#39;Happy Monkey&#39;; font-size: 12pt; vertical-align: baseline;">[]

<span style="color: #1155cc; font-family: &#39;Happy Monkey&#39;; font-size: 12pt; vertical-align: baseline;">~[]

<span style="font-family: &#39;Happy Monkey&#39;; font-size: 12pt; vertical-align: baseline;">~ <span style="color: #1155cc; font-family: &#39;Happy Monkey&#39;; font-size: 12pt; vertical-align: baseline;">[]

<span style="font-family: &#39;Happy Monkey&#39;; font-size: 12pt; vertical-align: baseline;">~ <span style="color: #1155cc; font-family: &#39;Happy Monkey&#39;; font-size: 12pt; vertical-align: baseline;">[]

<span style="font-family: &#39;Happy Monkey&#39;; font-size: 12pt; vertical-align: baseline;">~ <span style="color: #1155cc; font-family: &#39;Happy Monkey&#39;; font-size: 12pt; vertical-align: baseline;">[]