Huntington’s disease is a rare and fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It’s named after George Huntington, the physician who first described it in the late 19th century.
The disease alters a person’s ability to move, think, and even their behavior. It’s often characterized by symptoms such as involuntary jerking or writhing movements, muscle problems, slow or abnormal eye movements, impaired gait, posture and balance, difficulty with the physical production of speech or swallowing, and cognitive impairments.
It’s usually hereditary and tends to appear in people’s thirties or forties, but can also begin much earlier or later. It’s caused by a mutation in a specific gene. If one of your parents has Huntington’s disease, you have a 50% chance of developing it.
There is currently no cure for Huntington’s disease, and the progression can’t be slowed or stopped. Instead, treatment aims to manage the symptoms and help people to live as independently as possible. Specialists in a range of fields including neurology, physiotherapy, occupational therapy, and speech therapy usually form a multi-disciplinary team to work together to manage the condition.
Causes of Huntington’s disease
Huntington’s disease, often abbreviated to HD, is a hereditary neurodegenerative disorder. This means it is inherited from parents and leads to the degeneration or break down of nerve cells in the brain.
The main cause of Huntington’s disease is genetic mutation. This mutation occurs in the huntingtin gene (HTT), which plays a key role in nerve cells in the brain. With this mutation, the gene codes for a different form of the protein, called mutant huntingtin.
In people with Huntington’s disease, a specific section of DNA, known as a CAG repeat, is larger than it is in people without the disease. Normal genes contain up to 26 CAG repeats. However, in genes affected by Huntington’s, this rises significantly, typically to around 40 or more. The more repeats a person has, the greater the chance they will develop symptoms of Huntington’s at an earlier age.
This abnormal protein gradually damages cells in the brain, leading to the symptoms of Huntington’s disease. The areas of the brain most affected are those that control movement, cognitive abilities, and psychiatric symptoms, causing corresponding symptoms as these areas degrade.
It is an autosomal dominant disorder, meaning that an individual only needs to inherit one copy of the defective gene from one parent to develop the disease. This also means that if you have the disorder, your children have a 50% chance of inheriting it.
Risk Factors of Huntington’s disease
Huntington’s disease is primarily a genetic condition triggered by a mutation in a gene known as HTT (Huntingtin gene). Here are several risk factors associated with it:
1. Genetic Factor: This disease is an autosomal dominant condition, which means that if one parent carries the mutated HTT gene, their children have a 50% chance of inheriting it.
2. Age Factor: Symptoms usually start to appear between the ages of 30 and 50, although in rare cases might begin in early childhood or later adulthood.
3. Family History: If your parent had Huntington’s, you’re at a much higher risk of developing it as well.
It is worth noting that there are no other identified risk factors – things like environment, lifestyle, or other health conditions don’t seem to increase the risk of Huntington’s disease. If you have the genetic mutation, you will develop the disease at some point in your life. Hence, a person’s best option is genetic counselling if the disease exists in their family history.
Signs and Symptoms of Huntington’s disease
Huntington’s disease is a progressive brain disorder caused by a single defective gene. It leads to changes in the central area of the brain, which affect movement, mood, and thinking skills. Here are some of the signs and symptoms of Huntington’s disease:
1. Movement disorders: Huntington’s disease can cause a number of involuntary movements and motor control issues. These could include jerky, random, and uncontrollable movements, muscle problems such as rigidity or muscle contracture (dystonia), slow or abnormal eye movements, and difficulties in speech and swallowing.
2. Cognitive disorders: There could also be several cognitive impairments, such as difficulty in organizing, prioritizing or focusing on tasks, lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration), and lack of impulse control that can result in outbursts or acting without thinking. The progression of the disease may also lead to difficulty in processing thoughts and “finding” words.
3. Psychological disorders: The disease can cause a number of psychiatric issues, the most common of which is depression. This isn’t simply a reaction to receiving the diagnosis, but is a result of injury to the brain and subsequent changes in brain function. Other common disorders include personality changes, feelings of irritability or sadness, insomnia, and social withdrawal.
It’s important to note that the progression of Huntington’s disease varies greatly from person to person, even among members of the same family. Some people may experience mood and mental changes long before movement problems, while others might only ever have physical symptoms. If someone is experiencing symptoms similar to those of Huntington’s, or has a family history of the disease, they should seek medical attention.
Diagnosis Huntington’s disease
Huntington’s disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). It’s a genetic disorder, meaning it’s inherited from one’s parents through a mutation in the specific gene. If one parent has Huntington’s disease, their child has a 50% chance of acquiring the gene and the illness.
The disease primarily affects a person’s neurological functions. In the early stages, symptoms may be mild and include uncontrolled movements, clumsiness, and balance problems. Emotional disturbances may include depression, irritability, social withdrawal, and insomnia.
As the disease progresses, it affects the person’s ability to walk, talk, and complete tasks. Memory decline and the ability to recognize family members tend to occur in the later stages of the disease.
There’s currently no cure or way to slow down the progression of Huntington’s disease, but there are treatments available to help manage some of its symptoms. Regular exercise, a healthy diet, and getting enough sleep also seem to improve the well-being of people with the disease.
Early detection through genetic testing can be important, especially for people with a family history of the disease, enabling them to make informed decisions about their future health.
Treatment of Huntington’s disease
Huntington’s disease is an inherited condition that causes brain cells, or neurons, to die in various areas of the brain, including those that help to control movements and cognitive processes. Although there’s no cure for Huntington’s disease, treatments can help to manage symptoms, improve quality of life, and slow down the progression of the disease. Here is what the treatment for Huntington’s disease typically involves:
1. Medication: Different types of drugs can manage the movement symptoms and psychiatric symptoms of Huntington’s disease. For movement symptoms, drugs like Tetrabenazine can help to suppress the involuntary jerking and movements. For psychiatric disorders, such as depression, anxiety, and obsessive-compulsive disorder (OCD) that occur in Huntington’s disease, selective serotonin reuptake inhibitors (SSRIs) or other types of antidepressant medication can be used.
2. Physical Therapy: A physical therapist can teach exercises to improve strength and flexibility, enhance balance and coordination, and maintain mobility for as long as possible. Regular physical activity can assist in managing movement symptoms.
3. Occupational Therapy: Occupational therapists can suggest assistive devices and home modifications to help with daily activities such as dressing, feeding, bathing, and housekeeping. They can also suggest adaptations to reduce the risk of falls and accidents.
4. Speech Therapy: Speech and language therapists can improve speech and swallowing difficulties that are common in people with Huntington’s disease, helping them to communicate more effectively and eat and drink more safely.
5. Psychological Counselling: Given the significant impact on mental health and relationships, psychological counselling or therapy can provide strategies for managing symptoms and improving mental health.
6. Support Groups: Support groups can provide emotional assistance, as people with Huntington’s disease and their families can share experiences and coping strategies.
7. Genetic Counselling: Genetic counselling is advised for individuals who have a family history of Huntington’s disease and are considering getting tested for the gene or are planning on having children.
It’s crucial to maintain a dialogue and regular check-ups with healthcare professionals to monitor the progression of the disease and adjust treatments as necessary. Even with treatment, the disease will progressively worsen over time. Advanced stages will require full-time care and supervision.
Medications commonly used for Huntington’s disease
Huntington’s disease is a genetic disorder that causes the progressive breakdown of nerve cells in the brain. There’s no cure for Huntington’s disease, but medications can help manage some of the symptoms. Here are some commonly used medications for Huntington’s disease:
1. Tetrabenazine (Xenazine), Deutetrabenazine (Austedo), Pridopidine (Pridopine): These are used to suppress the involuntary jerking and twitching movements (chorea) associated with Huntington’s disease.
2. Antipsychotic drugs, like Haloperidol (Haldol) and Risperidone (Risperdal): These are often used to control movements as well as manage outbursts, hallucinations, delusions, and violent behavior.
3. Antidepressants, such as Fluoxetine (Prozac) and Sertraline (Zoloft): These are used to manage depression and mood swings associated with Huntington’s disease.
4. Mood-stabilizing drugs, like Valproate (Depakote): These help control mood swings and prevent depression.
5. Benzodiazepines, such as Clonazepam (Klonopin): These can help with chorea, anxiety, and insomnia.
6. Antiepileptic drugs, like Carbamazepine (Tegretol): These help with seizures, which are a less common symptom of Huntington’s disease.
7. Cognitive Enhancing drugs like Donepezil (Aricept), Rivastigmine (Exelon), or Memantine (Namenda): Used to enhance cognitive abilities or slowdown cognitive decline.
Remember, each individual with Huntington’s disease may react differently to these medications, and their treatment plan will be tailored to their specific symptoms. Always consult with a healthcare professional for medical advice.
Prevention of Huntington’s disease
Huntington’s disease is an inherited disorder caused by a genetic mutation. Currently, there is no way to accurately prevent this disease if you are genetically predisposed. However, there are some strategies that can be used to manage symptoms, slow the progress of the disease, and improve quality of life.
If you know you’re at risk for Huntington’s Disease (i.e., one of your parents had the disease), you can choose to undergo genetic testing. This could help you make informed decisions about your future, including family planning.
Prenatal testing is another possible preventive measure for those who have a family history of Huntington’s disease and wish to have children. Through in-vitro fertilization (IVF) methods, embryos can be tested for the Huntington’s gene, and only those without the gene can be implanted.
Living a healthy lifestyle could potentially delay the onset of symptoms. Regular physical activity can help improve muscle strength and coordination. A balanced diet that provides plenty of nutrients helps to keep the body strong.
Although there is no definitive way to prevent Huntington’s disease, researchers are actively working on new treatments and therapies that can potentially slow the progression of the disease and improve the quality of life for those with this condition.
Remember: if you have a family history of Huntington’s disease, it is best to discuss your options and possible preventative measures with a healthcare provider or genetic counselor, as they can provide you with the most accurate and up-to-date information.
FAQ’s about Huntington’s disease
Huntington’s Disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and behavioral symptoms. Here are some frequently asked questions (FAQ’s) about Huntington’s disease.
1. What causes Huntington’s Disease?
HD is caused by an inherited defect in a single gene. It’s an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disease.
2. What are the symptoms of Huntington’s Disease?
Symptoms of HD can include behavioral changes, uncontrolled movements, clumsiness, and issues with balance, a decline in thinking and reasoning skills, including memory, concentration, judgment, and the ability to plan and organize.
3. How is Huntington’s Disease diagnosed?
Huntington’s disease can be diagnosed based on the results of a physical exam, a review of family medical history, and neurological and psychological tests. A genetic test can also confirm the diagnosis.
4. Who is at risk for Huntington’s Disease?
Each child of a Huntington’s disease parent has a 50% chance of inheriting the Huntington’s disease gene. The disease affects both men and women.
5. Is there a cure for Huntington’s Disease?
Currently, there is no cure for Huntington’s Disease. However, there are treatments available that can help manage symptoms of the disease. Medications are available to help control movement problems, and psychiatric drugs can help manage mood swings and counteract hallucinations or delusions.
6. Can you predict when symptoms will begin?
It varies widely between individuals when symptoms will start. On average, symptoms start to appear between the ages of 30 and 50, but can begin at any age.
7. What is the life expectancy after diagnosis?
Following the onset of symptoms, the progression of the disease can last from 10 to 25 years, eventually leading to death, usually from heart disease, pneumonia, or other infections.
8. How can I cope with a Huntington’s Disease diagnosis?
Support is available from medical professionals, social workers, support groups, and organizations dedicated to HD. Genetic counseling is also often recommended for those at risk of inheriting the disease.
9. Can Huntington’s Disease be prevented?
If a parent has Huntington’s disease, pre-implantation genetic diagnosis (PGD) can be done, during In Vitro Fertilization (IVF) to help ensure the disease isn’t passed on to a child. However, once a person has the disease, it cannot be prevented.
Always consult with a healthcare provider for more personalized, in-depth information.
Useful links
Huntington’s disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Its symptoms can affect physical control, mental capacity, and emotional state. Here are some useful sources from medical journals and health organizations about this disease:
Please note that while these are academic or professional sources, they are not all peer-reviewed journal articles. Always consult with a healthcare professional or trusted expert for medical advice or information.
Complications of Huntington’s disease
Huntington’s disease is a serious, progressive, hereditary neurodegenerative disorder. Its complications are multifaceted and can severely affect a person’s functional abilities and quality of life, including:
1. Movement Disorders: The disease commonly leads to involuntary movements (chorea), muscle problems such as rigidity or muscle contracture (dystonia), and impaired gait, posture, and balance. This can make daily tasks difficult, and over time, may render an individual reliant on a wheelchair, or bedridden.
2. Cognitive Disorders: Huntington’s can lead to progressive problems with cognitive functions, like difficulty in organizing, prioritizing or focusing on tasks, lack of flexibility or the ability to start a plan, impulse control, and general slowness in processing thoughts or finding words. This often leads to difficulties in work, social interactions, and daily functions.
3. Psychiatric Disorders: There’s also a high risk of psychiatric disorders, including depression, irritability, apathy, social withdrawal, insomnia, and fatigue. At its severe stages, it can cause delusions or hallucinations. There are also high instances of suicide among those suffering from the disease.
4. Physical Health Problems: As the disease progresses, swallowing becomes difficult, leading to potential choking hazards. It can also lead to unintentional weight loss and malnutrition. Poor physical health can lead to other problems like aspiration pneumonia, which is a common cause of death among people suffering from this disorder.
The effects become progressively worse over 10 to 30 years, ultimately leading to death. Currently, there is no cure available for Huntington’s disease, however there are treatments that can help manage the symptoms.
Home remedies of Huntington’s disease
Huntington’s disease is a serious, hereditary neurodegenerative disorder and, unfortunately, no cure exists for this degenerative illness. However, some lifestyle changes and home remedies can help manage the symptoms and improve the quality of life for people with Huntington’s disease.
Here are a few suggestions:
1. Healthy Diet: A balanced diet can help manage weight loss that’s common in people with Huntington’s disease. Increased calorie intake is often required as the disease progresses. Consider speaking with a dietitian to help plan meals.
2. Regular Exercise: Physiotherapy and regular exercise may help maintain mobility for as long as possible. Walking, swimming, or any form of physical activity which doesn’t pose a risk of injury could be beneficial.
3. Speech Therapy: As Huntington’s affects movement, it can impact the person’s ability to speak. Speech therapy could help manage these difficulties.
4. Mental Activities: Engaging in activities that stimulate the mind like puzzles, reading, or arts can help maintain mental function.
5. Adequate Rest: Getting enough sleep and rest may help manage symptoms such as irritability and mood swings.
6. Regular Check-ups: Regular health checks can assist with managing the progression of the disease and dealing with any new symptoms that arise.
7. Support Groups: Joining support groups where you can share your experiences and feelings with others who understand what you’re going through can be helpful.
8. Simple Home Environment: Maintaining a clutter-free, easy to navigate home environment is important to reduce accidents due to poor motor control.
Remember, discussing your plans with a healthcare provider is paramount to ensure they’re suitable and safe for your specific condition and stage of disease. Home remedies should complement, not replace medical treatments.