Creator: Dr. Jayasree S
Published: 2022-08-04T15:02:16

Huntington’s disease is a genetically inherited neurodegenerative condition of the brain that gradually causes physical, behavioral, and functional impairment.

Written by

Dr. Jayasree S

Medically reviewed by

Dr. Abhishek Juneja

August 4, 2022

January 4, 2024

Introduction

Huntington's disease is a hereditary neurodegenerative disorder impacting cognitive and motor functions. It is caused by a mutated gene affecting brain cells' communication, leading to involuntary movements, cognitive decline, and psychiatric symptoms. Symptoms typically appear in mid-adulthood and worsen over time, profoundly affecting the quality of life.

What Is Huntington’s Disease?

It is a degenerative condition of nerves, where certain parts of the brain lose their function over time. Huntington's disease causes a marked decline in the individual's physical, emotional, and cognitive abilities over the years. It is a genetically inherited disease usually passed on from the parents directly to children. Along with physical impairment, the affected individual tends to suffer a great deal of psychological and emotional problems during the course of the disease. Huntington’s disease worsens gradually to grow fatal over fifteen to twenty years from birth, to the point the individual requires full-time nursing assistance.

What Causes Huntington’s Disease?

It is caused by a faulty gene inherited from one’s parents. Huntington's disease belongs to the autosomal dominant category, which means there is about a fifty percent chance of inheriting this condition if one of the parents is affected. These genes cause irreversible damage to the nerve cells and gradually reduce their number. This affects the functions of the brain and spinal cord in an individual.

What Are the Symptoms of Huntington’s Disease?

Not everyone affected with Huntington’s disease shows the same type of symptoms, nor do they appear at the same stage of the disease. Usually, the symptoms do not start in childhood but later on in life, around the ages of thirty to fifty. Here is a list of what symptoms to expect at each stage of the disease:

Early-Stage Huntington’s Disease:

In the early stages of the disease, individuals show all or one of the following symptoms:

Uncontrollable jerky movements (chorea) of hands and legs - The individual makes involuntary movements they do not intend to make, which may be socially awkward.
Slurred speech and issues with swallowing.
Clumsiness and difficulty in moving around - one finds it difficult to execute a set of movements one wants to make, such as turning the pages of a book, buttoning up a shirt, or driving.
Stumbling while walking.
Mental depression, obsessions, and anxiety.
Altered personality, always prone to mood swings - show irritability, anger, and frustration.
Inability to focus on matters that require planning and organizing.
Difficulty in adapting to new situations.
One tends to be frequently forgetful.

Middle-Stage Huntington’s Disease:

Symptoms at this stage have a lot to do with muscle function and body movements. One may suffer:

Stiffness and rigidity in the muscles with uncontrollable muscle spasms.
Movements tend to slow down drastically as arms and legs get clumsier than before.
Forming words becomes difficult while speaking.
Finds it hard to swallow food, making eating altogether difficult, leading to excessive weight loss.
Those who had an onset of symptoms in their teens suffer high-level behavioral challenges. One shows frequent bouts of intense frustration, depression, and anger; this can be very challenging for the affected and their close ones.

Advanced Stages of Huntington’s Disease:

As per the features of this condition, in the later stages of Huntington’s disease, one’s general health and functional abilities decline to a minimum. Towards this stage, one suffers:

Severe weight loss for being unable to eat and swallow.
Nutritional deficiencies as a result of problems with swallowing.
Movement gets severely restricted due to the extreme stiffness of the body.
Speech and communication are severely affected.

What Is Juvenile Huntington’s Disease?

Also known as juvenile-onset Huntington's, where one develops the symptoms before the age of 20 years. Though juvenile Huntington's disease is quite rare, the apparent symptoms are very different from adult Huntington's disease. The rigidity and muscular spasms start early, but the uncontrollable jerky movements (chorea) may not be there. The individual may develop seizures. In addition, most affected teenagers show behavioral problems that are difficult to manage, like mood swings, agitation, and frustration. Children tend to perform poorly at school and require specialized teachers and equipment assistance.

How Is Huntington’s Disease Tested and Diagnosed?

Diagnosis is through clinical examination, family history, and a thorough assessment of symptoms. The doctor may run various neurophysiological tests to confirm Huntington's disease. A genetic test to detect the presence of a faulty gene is confirmatory. Imaging studies help assess the level of nerve destruction. The doctor may order an electroencephalogram (EEG) to determine the brain's ability to send electrical signals.

What Is the Treatment for Huntington’s Disease?

There is no set cure for Huntington’s disease, but one can learn to take care of the symptoms, effectively improving their quality of life. Treatment and support for every affected individual need to be tailored to one’s disabilities. As symptoms reach the next stage, the level and type of care should also be modified accordingly. The support system should be designed so that priority is given to the symptoms causing emotional and practical difficulty to the affected individual and their family. The following strategies are found helpful:

Consulting a neurologist and psychiatrist to manage the behavioral aggression and ease out the uncontrolled fidgety movements. Drugs such as Haloperidol, Tetrabenazine, and Amantadine are found helpful.
Physical Therapy- Helps ease body stiffness and maintain the range of movement to a certain extent. Therapy involves exercises, massages, and lifestyle advice.
Occupational Therapy - The therapist can train the individual to move around better and carry out the activities of daily living in the best possible manner. Additionally, they can help the individual adapt to declining body functions with the aid of special equipment, mobility support, and other practical solutions.
Speech and Language Therapy - Helps maintain the level of speech and improve the swallowing ability to a certain extent. They can also introduce means to improve the difficulties with eating, drinking, swallowing, and communication.
Dieticians and Nutritionists - Can support the affected to maintain adequate body weight and remain healthy. When the eating process turns difficult, they advise high-calorie diet patterns to compensate for it.
Genetic Counseling and Genetic Tests - Can identify the presence of the gene that is responsible for causing Huntington’s disease. Such tests help one plan their life accordingly or do the needful to prevent passing it on to the next generations in the family.
Support Groups - Joining support groups involving other affected individuals and their families can help them figure out the best possible ways to alleviate the burden of the disease.

Conclusion:

As each stage passes, it can be highly frustrating for the individual not to be able to do the things that they did earlier in life. This brings about a lot of emotional stress and requires external support to cope with the new situation mentally. Therefore, giving the right amount of support at each stage of Huntington's disease positively improves the quality of life for the affected. Under the efficient guidance of a team of healthcare professionals, the affected one’s family may be able to come up with the best possible arrangement for rehabilitation.

Frequently Asked Questions

1. What Are the Symptoms of Huntington’s Disease in Its Early Stage?

Following are the initial symptoms one may suffer:
- Involuntary jerky movements with hands and legs (chorea), which may be socially awkward.
- Slurred speech and issues with swallowing.
- Clumsiness and difficulty in moving around.
- Stumbling while walking.
- Mental depression, obsessions, and anxiety.
- Altered personality, always prone to mood swings - show irritability, anger, and frustration.
- Inability to focus on matters that require planning and organizing.
- Difficulty in adapting to new situations and starting to get forgetful often.

2. Around What Age Do the Symptoms of Huntington’s Disease Start to Show?

If an individual has inherited the genes for Huntington's disease, usually their symptoms start around thirty or fifty years of age. Whereas there is another type of condition known as juvenile Huntington's disease. Where symptoms start in childhood or anywhere before the age of twenty.

3. What Is the Average Lifespan of an Individual Affected by Huntington’s Disease?

With a gradual decline in functional abilities and cognition, the affected individual succumbs to bed towards the late stages of Huntington's. From the start of symptoms, one may survive only for another ten to thirty years. If one develops the symptoms at the age of fifty, chances are they may die by the age of sixty. Those affected with juvenile Huntington's disease normally survive only ten more years after the onset of symptoms.

4. What Makes Huntington’s Disease Different From Parkinson’s Disease?

Huntington’s disease is strictly a genetically inherited neurological disorder. Meaning that a malfunctioning gene responsible for Huntington's gets passed on from parents to children. Whereas the underlying cause of Parkinson’s disease is environmentally triggered. Moreover, with Parkinson’s disease, disabilities lie at a functional level. But an individual affected by Huntington’s disease suffers major intellectual deficits.

5. Does Huntington’s Disease Cause Pain to the Affected Individual?

Due to diminishing functional abilities, an individual affected with Huntington’s disease is often prone to falls, cuts, and bruises, which can be painful. Sometimes they end up having fractures, achy legs and hands, and also frequent tummy pain. But due to functional limitations of the brain, the pain may not be perceived to its full extent, but they certainly feel the distress.

6. Are Huntington’s Disease and Chorea the Same?

Chorea is a neurological symptom characterized by uncontrollable involuntary jerky movements of arms, legs, and face. It can be as subtle as a tremor or pronounced as visible jerking of the hand. It is a part of several diseases, including Huntington's. But Huntington’s disease involves a number of other symptoms as well besides chorea.

7. What Is the Diagnostic Strategy for Huntington’s Disease?

Diagnosis starts with a clinical examination, a family history review, and a thorough assessment of symptoms. Since Huntington’s disease is a genetically inherited disorder, one should undergo a genetic test to detect the presence of a faulty gene. The doctor conducts the following as well:
- Neurophysiological tests to confirm Huntington's disease.
- Imaging studies to assess the level of nerve destruction.
- An electroencephalogram (EEG) to determine the brain's ability to send electrical signals.

8. What Worsens the Health Status of an Individual Affected by Huntington’s Disease?

As the disease progresses to its advanced stages, one may find it very hard to chew and swallow food leading to an extreme state of malnutrition. This may cause drastic weight loss and poor body immunity. With the body’s defense mechanisms so low, one may catch infections like pneumonia and others easily, which may suddenly turn fatal.

9. Can Alcohol Abuse Be a Trigger for the Symptoms of Huntington’s Disease?

Any individual affected with Huntington’s disease shows problems with muscular coordination and mental health. Studies show there is a marked correlation between alcoholism to progression symptoms in an affected individual. Especially those who previously practiced heavy alcohol abuse found that the symptoms started early and progressed faster than those who did not.

10. Is Caffeine a Potential Trigger for Huntington’s Disease?

Huntington’s disease is essentially a neurodegenerative disease which means that the affected person may suffer progressive death of nerve cells. Studies have proved that caffeine generally affects the disease progression of all types of neurodegenerative diseases. Frequent intake of high amounts of caffeine certainly triggers the symptoms and worsens them faster.

11. Can Huntington’s Disease Turn Fatal Over a Period?

Huntington’s disease in itself is not fatal. But as the symptoms of the disease progress over time, it severely affects the general health of the individual. With severe weight loss, poor immunity, and overall weakness, one may be highly prone to lethal infections, fractures, and other ailments. This is what leads to early death in Huntington’s disease.

12. Who Is More at Risk for Acquiring Huntington’s Disease?

Huntington’s disease is a genetically inherited neurological condition. This means it gets passed on from one generation to the next via genetic units called genes. If one's parents possess the faulty gene responsible for Huntington’s disease in them, they have a fifty percent chance of acquiring the disease. Which puts them in the high-risk category. Also, the studies show that people from Europe and those with European ancestors have a higher tendency to possess the gene and get affected.

13. What Is the Treatment for Huntington’s Disease?

There is no cure for Huntington's disease as a nerve degeneration process can never be reversed. Since the symptoms of Huntington’s disease worsen gradually, the treatment should be tailored according to the affected individual’s special needs. By consulting a neurologist and psychiatrist, involuntary body movements and behavioral aggression can be brought under control. One may greatly benefit from a physical therapist, occupational therapist, and speech therapist regarding functional disabilities, muscle rigidity, and problems with swallowing. Planning a special diet with a dietician may help with weight loss and malnourishment in the long run.

14. What Are the Chances of Acquiring Huntington’s Disease if Both the Parents of an Individual Do Not Suffer From the Disease?

Technically, Huntington’s disease is caused by an autosomal dominant gene. And what this means is, that if both parents have the disease, the child will definitely get it. If one of the parents has it, the chances for the child to get it are fifty percent. And when neither of the parents has the disease, the child is least likely to develop it ever.

15. Does Huntington’s Disease Have Headaches as One of the Symptoms?

All major symptoms of Huntington’s disease are related to brain function. They may be projected as functional impairment and cognitive decline. An affected individual may suffer headaches along with many other ailments, but it is not a specific symptom of Huntington’s disease.

16. Are There Chances for Huntington’s Disease to Get Wrongly Diagnosed as Some Other Condition?

Huntington's disease is an extremely rare nerve-related disease. At the same time, there are several other neurological and psychiatric disorders with similar symptoms. For instance, Huntington's disease is often misdiagnosed as Parkinson’s disease due to symptoms like poor coordination and muscle rigidity. One may mistake it for psychiatric conditions such as schizophrenia since the affected individual shows behavioral aggression and apathy.

17. How Are the Eye Movements Affected in an Individual Suffering From Huntington’s Disease?

Huntington’s disease involves progressive nerve death in the brain. Hence the centers in the brain that controls eye movements may get affected too. It leads to slow saccades. Meaning when one is asked to quickly look at two different points alternatively, there is an obvious delay in moving the eyeballs from side to side or up and down. Also, one may have difficulty focusing on something pointedly. With disease progression, there will be thinning of the retina and eyesight issues too.

18. Can Huntington’s Disease Be Categorized as a Mental Illness?

Huntington's disease is not purely a psychiatric disorder. It is a combination of movement disorders, cognition disorders, and psychiatric disorders. One may show erratic behavior with aggression, apathy, agitation, social detachment, and altered sexual behavior. Hence the, psychiatric treatment is recommended as well.

19. What Are Tips to Hold an Effective Conversation With an Individual Affected With Huntington’s Disease?

For better understanding and promoting a good response from the affected person, one may try:
- To speak to them at a quiet palace without background noises and other distractions.
- Stick to one topic at a time and go slow with your speech.
- Ask questions with simple answers that can be expressed by a yes or no.
- Make appropriate hand gestures and facial expressions to pass on the idea better.

20. What Are the Neuropsychiatric Symptoms Commonly Expressed by Someone Affected by Huntington’s Disease in Its Initial Stages?

In the initial phase of the disease, one may appear stressed, sad and irritated. As the brain function gets affected, further one grows more socially detached and unconcerned with the people around them. With juvenile-onset Huntington's disease, which starts before the age of twenty, a child shows major attention deficits and poor learning skills. An affected teenager may show uncontrollable agitation and mood swings.

21. How Fast Do the Symptoms Progress in Huntington’s Disease?

The progression of the disease varies from person to person. In some individuals, the symptoms start at around forty and turn fatally ill in another ten to thirty years. In the case of juvenile Huntington’s disease, the symptoms tend to start, progress, and worsen in a shorter span of ten years.

22. What Does the Terminal Phase of Huntington’s Disease Look Like?

With advanced symptoms and disease progression, the affected individual may suffer severe movement disorder, cognitive impairment, and mental disorder. One can no longer move around, work, or carry out activities of daily living. Communication and food intake also becomes difficult. The affected person may require full-time nursing care.

23. Does Eating Chocolate Cause Trouble for Someone Affected by Huntington’s Disease?

There are no studies that prove chocolate is harmful to someone affected with Huntington’s disease. At the same time, any food can pose a choking hazard for the affected. Additionally, excessive intake of caffeine and alcohol abuse may trigger the symptoms and their progression in an affected individual.

24. How Does the Gut Get Affected in an Individual With Huntington’s Disease?

Most affected individuals have trouble with swallowing action. This makes them cut down on food and water intake. This may lead to frequent inflammation of the stomach and food pipe. Excessive intake of medicines to regulate the symptoms and lack of physical activity also triggers digestive disease in an affected individual.

25. How Does Huntington’s Disease Impact the Day-to-Day Lives of the Affected?

With the progressive worsening of movement disorders, one may not be able to move around, drive a car, or work at their jobs. As there is significant cognitive decline, one finds it hard to think, plan, make decisions, solve problems or memorize details. Which makes even simple mundane tasks hard to accomplish. Additionally, one may face psychological issues involving depression, irritability, mood swings, and emotional detachment, which considerably affect their social life.