Home : health : Huntington’s Disease – Symptoms, Causes, And Management

Huntington’s disease – Symptoms, causes, and management

Huntington’s disease – Symptoms, causes, and management

In the realm of neurological disorders, Huntington’s Disease (HD) stands as a formidable adversary, relentlessly encroaching upon the lives of those afflicted. HD is a hereditary, progressive neurodegenerative disorder that impairs both motor and cognitive functions, leading to a profound deterioration in an individual’s quality of life. With a genetic underpinning involving the expansion of CAG trinucleotide repeats, HD presents a complex clinical picture characterized by a range of motor symptoms, cognitive impairments, and psychiatric manifestations.

Motor symptoms

  • Chorea
    One of the hallmark symptoms of Huntington’s Disease is chorea, characterized by involuntary, jerky, and unpredictable movements of the limbs, face, and other body parts. These movements can be mild or severe and often interfere with activities of daily living.
  • Dystonia
    Individuals with HD may experience muscle contractions and abnormal postures known as dystonia. This symptom can lead to sustained muscle contractions, causing discomfort and difficulty maintaining a normal posture.
  • Bradykinesia
    As the disease progresses, individuals may develop bradykinesia, a slowness of voluntary movements. This can affect one’s ability to initiate and complete tasks.
  • Impaired coordination
    Huntington’s disease often leads to impaired coordination and balance. Individuals may have difficulty walking and may become prone to falls.
  • Difficulty swallowing
    Dysphagia, or difficulty swallowing, is a common symptom in advanced stages of HD. This can lead to low BMI, malnutrition, and an increased risk of aspiration pneumonia.

Cognitive and psychological symptoms

  • Cognitive decline
    HD affects cognitive functions progressively. Individuals may experience difficulties with memory, attention, and problem-solving. They may also have trouble planning and organizing tasks.
  • Behavioral changes
    Behavioral symptoms can include mood swings, irritability, and impulsivity. Individuals with HD may exhibit aggressive behavior, apathy, or social withdrawal.
  • Psychiatric symptoms
    HD is associated with an increased risk of psychiatric symptoms, including depression and anxiety. In some cases, individuals may experience hallucinations or delusions.
  • Loss of insight
    As the disease advances, individuals with HD may lose insight into their condition and exhibit denial of their cognitive and motor impairments.
  • Personality changes
    Personality changes can be profound in individuals with HD. They may become more self-centered, rigid in their thinking, or exhibit disinhibited behavior.

Other symptoms

  • Speech difficulties
    Speech may become slurred and difficult to understand as the disease progresses. Articulation and vocal control deteriorate over time.
  • Sleep disturbances
    Insomnia and other sleep disturbances are common in individuals with HD, further exacerbating cognitive and motor symptoms.
  • Rigidity
    Some individuals with HD may experience muscle rigidity, making movements stiff and uncomfortable.
  • Seizures
    While less common, seizures can occur in individuals with HD.

Causes of Huntington’s disease
Huntington’s disease has a clear genetic basis, primarily caused by a mutation in the HTT gene, located on chromosome 4. This mutation involves the expansion of a CAG trinucleotide repeat within the gene. The length of this repeat determines the severity and age of onset of the disease. Individuals with 36 or more CAG repeats are at risk of developing Huntington’s disease (HD), with longer repeats associated with earlier onset of symptoms. This can further lead to the production of an abnormal protein called mutant huntingtin (mHTT). This mutant protein disrupts various cellular processes, particularly in neurons, where it accumulates and forms toxic aggregates. The exact mechanisms by which mHTT causes neuronal dysfunction and death are still being studied, but it is believed to interfere with vital cellular functions such as protein processing, mitochondrial function, and intracellular transport.

Management options
Managing Huntington’s disease (HD), a relentlessly progressive neurodegenerative disorder poses complex challenges for individuals affected and their caregivers. While there is no cure for HD, a multifaceted approach aims to alleviate symptoms, enhance quality of life, and provide the necessary support.

Physical and occupational therapy
Physical and occupational therapy are crucial components of HD management:

  • Physical therapy
    Physical therapists devise tailored exercise routines to address motor impairments and maintain mobility. This helps individuals preserve their strength, balance, and coordination, delaying the progression of physical disability.
  • Occupational therapy
    Occupational therapists assist individuals in developing strategies and adaptive techniques to maximize their independence in daily activities. These therapists focus on improving fine motor skills, facilitating activities of daily living, and ensuring safety within the home environment.

Speech and swallowing therapy
Speech therapists are essential in managing speech and swallowing difficulties in individuals with HD. As the disease progresses, speech may become slurred and difficult to understand, and swallowing problems can lead to malnutrition and aspiration pneumonia. Speech therapists help individuals improve communication skills and implement strategies to address these issues.

Counseling and support
Counseling and psychological support are vital aspects of HD management, benefiting both individuals with HD and their caregivers:

  • Psychotherapy
    Psychotherapy can help individuals cope with the emotional and psychological challenges posed by HD. Cognitive-behavioral therapy (CBT) and supportive counseling may be utilized to address mood disturbances, anxiety, and stress.
  • Support groups
    Support groups provide individuals and families affected by HD with a platform to share experiences, gain insights, and find emotional support. These groups often help participants navigate the challenges of caregiving and coping with a progressive neurodegenerative disease.
  • Genetic counseling
    For individuals with a family history of HD or those at risk of inheriting the mutated gene, genetic counseling is crucial. Genetic counselors offer information about the genetic basis of HD, assess an individual’s risk, and provide guidance on family planning and genetic testing decisions.

Research and clinical trials
Participation in research studies and clinical trials is a proactive approach for individuals with HD. These endeavors aim to advance our understanding of the disease and test potential therapies. Engaging in clinical trials provides access to experimental treatments that offer some hope for symptom management and disease modification.

Hospice care
In the advanced stages of HD, hospice care may become necessary to provide comfort and enhance the quality of life. Hospice teams focus on pain management, symptom relief, and emotional support for the individual with HD and their family.

Most Popular

3 common types of soaps that trigger eczema flareups

3 common types of soaps that trigger eczema flareups

Atopic dermatitis or eczema is a skin disease that makes the skin reddish, inflamed, and itchy because of specific triggers. It can affect any body part and appear anywhere on the skin. The most common symptoms are dryness, bumps, rashes, redness, and peeling of the skin. Despite being one of the most typical forms of atopic dermatitis, there is no such common definite cause; however, particular triggers cause eczema flareups, including specific kinds of soaps. Soaps and eczema flareups When eczema triggers, most of the time, it makes its appearance in certain typical parts of the body. These include behind the knee areas, hands, and feet. Some of the most common triggers of eczema flareups include household cleaners containing specific chemicals, and, most notably, soaps. However, the experience of eczema won’t be the same for everyone. One of the most typical symptoms is dry skin, where the soap’s role becomes significant. It is a pretty well-known fact that using soaps makes one’s skin dry. This happens because of specific harsh chemicals that swipe off moisture from one’s skin. These chemicals can also trigger severe irritation and reactions, specifically if the skin is too sensitive or if one is suffering from eczema.
3 effective ways to manage multiple myeloma

3 effective ways to manage multiple myeloma

Multiple myeloma is a type of cancer that affects the plasma cells in the bone marrow. Here, cancerous cells begin accumulating in the bone marrow and outnumber the healthy cells. This leads to huge amounts of unwanted proteins rather than helpful antibodies. About 34,000 adults in the country are estimated to be affected by this condition in 2022. However, the disease can be managed through the following treatment options, foods, and lifestyle changes: Treatment options Multiple myeloma does not have a permanent cure, but the disease and its symptoms can be managed with the right treatment. Doctors may recommend immunotherapy to treat this blood-related condition. Immunotherapy This is a treatment method that empowers the patient’s immune system to fight cancerous cells. It is a biological therapy where certain substances derived from living beings are used for the treatment. Here are a few options: CAR T-cell therapy: This is a form of immunotherapy prescribed for multiple myeloma patients. This works on the T-cells (a white blood cell type), stimulating them to fight cancerous growth. The therapy involves drawing blood from the patient and adding chimeric antigen receptors (or CARs) to the blood, helping the T-cells target certain cancerous cell antigens. The CAR T-cells are then infused into the blood of the patient.
9 must-try styling hacks for a trendy look

9 must-try styling hacks for a trendy look

For most people, achieving a fashionable look that stands out can be incredibly challenging, especially in a hurry. Celebrities and fashion influencers often turn up to events looking flawless; have you ever wondered how they manage to do so every time? Why by using fashion hacks, of course! To come to your rescue, here are some styling hacks that you can incorporate into your daily outfit-planning routine to look effortlessly stylish. Pick the right accessories It may seem generic, but it is still important to pick the right accessories to ensure your outfits have the best look. Three accessories can effortlessly upgrade any look. The best ones you can try are sunglasses, a belt, and a bag. Match these items with other outfit elements for a seamless flow. You can also go with options that have striking design elements that can elevate simple outfits and attract attention. Match the skirts with boots It is one of the best styling hacks popularized by many fashionistas – matching the boots with dresses or maxi skirts. Typically, dresses or skirts in delicate materials like lace look spectacular with solid, edgy boots. Mixing two opposite styles is one of the most genius ways to look fashionable.
7 delicious and nutritional snacks for kids

7 delicious and nutritional snacks for kids

Feeling frequent bouts of hunger is not unusual for kids. In fact, it’s quite normal for children in their developing years to feel hungry frequently. However, extreme hunger can lead children to reach out for processed foods, most of which are filled with artificial ingredients, added sugars, and refined flour. These foods have empty calories and no nutritional value. Here are some nutrition-rich kid snacks you can make for your kid without any hassles: Celery with peanut butter and raisins Also known as “ants on a log,” celery with raisins and peanut butter can prove to be a fun way to make your child have a vegetable. Chop a twig of celery into three or four pieces. Take some peanut butter and spread it evenly inside the hollow part of the celery. After that, put some raisins on the peanut butter. The three foods combined in this recipe can offer an excellent balance of nutrients like protein, fat, and carbs. However, ensure that the peanut butter you use is not loaded with added sugars or vegetable oils. Nuts Nuts are notable for their high-fiber content, along with healthy fats and antioxidants. To support your child’s growth, it is essential to provide them with sufficient dietary fats.
7 human foods safe for consumption by dogs

7 human foods safe for consumption by dogs

A dog is a man’s best friend. Now you might have heard this a lot of times, and if you have ever had a pet dog, then you know the joy they bring into the lives of others. However, as often happens with family, you must have been tempted to share your food with your pet dog. Unfortunately, not all human foods are pet-safe. Read on to learn about which foods your dog can eat. 7 human foods that are safe for consumption by dogs It is a known fact that dogs and puppies have different digestive systems compared to humans, making some of the foods you eat unhealthy or even toxic for them. Here are some of the human foods that are safe for dogs: Carrots Vegetables and fruits are known to be incredible sources of nutrition. Carrots are an excellent source of fiber, vitamins, and minerals, making it a snack that your puppy can eat at any time of the day. You can either cook it or even feed it as a raw snack, but remember to cut the vegetable into small pieces to avoid choking hazards. Watermelon Some fruits can probably make your dog incredibly sick, but watermelon is not one of them.

Popular Articles

4 essential vitamins for optimum eye health
health
01

4 essential vitamins for optimum eye health

The eyes are complex organs and need a variety of nutrients to function optimally. Many common health conditions like glaucoma, cataracts, age-related macular degeneration, diabetic retinopathy, and others can negatively affect our eyes, which may lead up to a complete loss of vision. While some conditions like moderate astigmatism can be corrected using contact lenses or eye lenses, others can be prevented by consuming a healthy dose of these 4 vitamins: Vitamin A Vitamin A deficiency is one of the most common causes of blindness globally. Vitamin A plays a crucial role in maintaining a clear cornea (outside the covering of the eye). A person with this vitamin deficiency may find their eyes not producing enough moisture to stay lubricated. It is also essential for maintaining the eyes’ light-sensing cells called photoreceptors. A deficiency of vitamin A can also lead to xerophthalmia, a progressive eye disease that begins with night blindness. Continued deficiency can lead to the drying up of the eyes and tear ducts, and softening of the cornea, resulting in irreversible blindness. To maintain eye health, it is recommended to eat vitamin-A-rich foods, like sweet potatoes, leafy greens, pumpkins, squash, bell peppers, carrots, dairy products, egg yolks, and liver.
Read More
Avoid these 5 smartphone habits
smartphones
02

Avoid these 5 smartphone habits

For most people, it is next to impossible to get through the day without using smartphones at least a few times. You need to make calls, check updates on the go, and even use smart navigation systems on your phone. But some smartphone habits can severely hamper productivity, affect your health, and may make you overly dependent on the gadget. So, here are five smartphone habits to keep in check: Using an alarm app Using your phone as an alarm clock might seem completely harmless. After all, apps on the phone let you set multiple alarms. But it never stops at hitting the snooze or dismiss button once you wake up. You will be tempted to check your phone for messages and social media, which will delay getting out of bed. Opt for a conventional alarm clock and keep your phone away from you at night to avoid checking anything after getting up. Ignoring software updates Smartphone care is as important as learning how to use the device in moderation. Many people make the mistake of postponing crucial software updates and granting necessary application permissions. These habits make the device extremely vulnerable to cyber-attacks that can access confidential data. Always keep your phone updated to ensure the latest security updates are installed.
Read More
7 foods that help fight against Bronchitis
health
03

7 foods that help fight against Bronchitis

When you have bronchitis, it’s easy to overeat greasy, salty, or sugary foods to relieve the coughing, breathing, and throat pain. Alternatively, you may decide not to consume anything at all. However, you should take care and watch what you eat as refined carbs and saturated fats might impede recovery. Knowing which foods to avoid and which to eat may influence the severity of bronchitis symptoms. Here’s a list of a few items you should avoid. Foods with preservatives and additives Sulfites, a form of preservative, may aggravate bronchitis. Liquor, dried fruits, pickled foods, maraschino cherries, and lime juice all contain sulfites. Processed and quick meals frequently contain chemical additives, flavors, and colorings. Some bronchitis patients may be susceptible to or intolerant to these artificial components. Gas-forming foods Eating large meals or gas-producing foods strains the diaphragm, especially if you suffer from acid reflux. This can cause chest pains and asthma flare-ups. Beans, cabbage, carbonated beverages, onions, and fried dishes are examples of these foods. Sugar and HFCS Do you enjoy drinking sugar-laden colas? Be cautious. They can be dangerous to your health. Avoiding syrups, candies, and other sugary foods will help to relieve symptoms such as coughing, irritation, and discomfort in your lungs.
Read More