20 Interesting Facts About Huntington’s Disease

Here Are the Top 20 Fun & Interesting Facts About Huntington’s Disease:

#1 Huntington’s disease is a progressive brain disorder that causes cognitive difficulties, uncontrolled movements, and emotional disturbances. It is named after the American physician who described the condition in 1872.

#2 HD typically appears in middle-aged people (30-50 years), however, it can develop in younger individuals and seniors as well. When HD develops before age 20, it is called juvenile Huntington’s disease. Individuals with JHD commonly inherit the disease from their fathers.

Statistics

#3 HD appears to be less common in people with Chinese, Japanese, and African descent. It affects an estimated 3 to 7 individuals per 100,000 people of European ancestry.

#4 In the United States, 1 in every 10,000 persons (more than 30,000 persons) has the disease. Another 150,000 people are at risk of developing HD.

#5 A very high concentration of the disease has also been found in the Lake Maracaibo (covers an area of 5,130 square miles) region of Venezuela, where the prevalence is around 700 per 100,000 people.

Symptoms

#6 Symptoms of HD tend to develop in stages. Early-stage symptoms include:

• irritability;
• slight changes in coordination – making you more clumsy;
• depression;
• trouble thinking through problems;
• stiffness;
• fidgety movements that the patient can’t control.

#7 Later symptoms include:

• difficulty moving around – the patient may lose the ability to sit up by himself or to walk;
• involuntary jerking of the limbs;
• breathing problems;
• personality changes – it may change so the patient doesn’t seem like his former self at all;
• increasingly rigid movements;
• swallowing problems – the patient may get pneumonia from food going down the wrong way and choke on food;
• difficulty speaking clearly – eventually the patient may find all communication very difficult.

Complications

#8 Due to the loss of brain cells involved with motor function, sufferers have difficulty swallowing, controlling their movement, and clearing their lungs.

#9 The neurological damage associated with HD can cause psychiatric symptoms as:

• bipolar disorder (a brain disorder that causes unusual shifts in mood, activity, and energy levels);
• mania;
• obsessive-compulsive disorder (happens when an individual gets caught in a cycle of compulsions and obsessions);
• depression.

#10 Individuals with HD are more likely to choke. Some of the eating problems they may experience include:

• fear of choking or making a mess;
• an enormous increase in appetite;
• swallowing too soon – it is a choking hazard;
• the patient may choose to cram too much food in the mouth at one time due to changes in the ability to think;
• irregular diaphragm spasm, a rare condition that can be misdiagnosed as a spasm. It increases the risk of inhaling rather than swallowing food;
• inability to close the lips together correctly, allowing food to spill out of the mouth;
• loss of fine motor control in the neck and face, which prevents efficient swallowing and chewing;
• trying to eat quickly in order to satisfy urgent hunger.

#11 People with the condition typically die within 10 to 30 years following the diagnosis. The most prevalent cause of death includes:

• injuries related to falls;
• infections, especially pneumonia.

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Causes

#12 It is caused by a faulty gene on chromosome number 4. The gene is responsible for making a protein called huntingtin.

#13 HD is an autosomal dominant disorder, which actually means that an individual needs only one copy of the defective gene to develop the disease.

#14 For instance, if a parent has HD, there’s a:

• 1 in 2 chance of each of their children never developing HD. Also, unaffected children can’t pass the gene on to any children they have;
• 1 in 2 chance of each of their children developing HD. Also, affected children are able to pass the gene to any children they have.

#15 For 1 to 3 percent of people with HD, no family history of the disease is ever identified. This may be because of what is called a ”new mutation.”

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Diagnosis

#16 HD is diagnosed by:

• analyzing family history;
• using a positron emission tomography scan (a nuclear medicine functional imaging technique);
• using a magnetic resonance imaging scan;
• using a computed tomography scan.

Blood tests can help the doctor to determine the likelihood of developing HD.

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Treatment

#17 There is no treatment that can slow it down or reverse its progression. However, support can help reduce some of the problems caused by HD.

#18 Some of the treatments include:

• access to support services in the community;
• therapy for anxiety and depression which commonly accompany HD;
• medications to lessen the physical and mental effects of the disease.

#19 In 2017, an experimental drug (called IONIS-HTTRx) was introduced in a human trial involving sufferers with early HD. The drug is injected into the spinal fluid for it to reach the patient’s brain.

#20 Physical exercise can help the sufferers mentally and physically, therefore, patients with this disease should try to maintain some regular physical exercise.

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References

https://www.sciencedirect.com/topics/neuroscience/huntingtons-disease
https://www.sciencedaily.com/news/mind_brain/huntington's_disease/
https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Hope-Throug