Huntington’s disease is a genetic disorder that affects the brain, causing the gradual breakdown of nerve cells in certain areas of the brain. This progressive disease leads to a range of physical, cognitive, and emotional symptoms that worsen over time.
Huntington’s is a rare disease. Symptoms can develop at any time but they most commonly appear between the ages of 30 to 50. If symptoms begin before the age of 20, it is called Juvenile Huntington’s disease.
The symptoms of Huntington’s disease vary from person to person but typically include involuntary movements, impaired balance and coordination, cognitive difficulties, and mood changes. As the disease progresses, people may experience significant cognitive decline and personality changes, as well as difficulty with mobility, swallowing, and breathing.
There is currently no cure for Huntington’s disease, but treatments can help manage symptoms and improve quality of life. Early diagnosis and treatment can make a significant difference in the course of the disease.
Huntington’s Disease Symptoms
Huntington’s disease causes a range of symptoms, including physical, cognitive, and emotional impairments. Symptoms usually start between 30 to 50 years of age and progressively worsen over time as the disease causes the breakdown of nerve cells in certain areas of the brain. The specific symptoms of Huntington’s disease can vary depending on the individual’s age, genetics, and overall health.
The first symptoms of Huntington’s disease may include:
- Difficulty concentrating
- Memory lapses
- Depression and low mood
- Stumbling and clumsiness
- Variations in mood, such as irritability or anger
As Huntington’s disease progresses, people may experience the following symptoms:
- Involuntary jerking or fidgety movements of the limbs and body
- Difficulty speaking clearly, which may progress to difficulty with all communication
- Swallowing problems, which can lead to choking on food and lung infections
- Increasingly slow or rigid movements
- Personality changes, which can cause the affected person to seem like a different version of themselves
- Breathing problems
- Difficulty with mobility, which can progress to a loss of ability to walk or sit up independently
Huntington’s disease can also lead to mental health concerns such as:
- Feelings of irritability, sadness or apathy
- Social withdrawal
Speak to your GP if you’re worried you may have any of the symptoms of Huntington’s disease, especially if you have a history of the disease in your family. Your GP can connect you with a specialist and help you rule out any other underlying causes of your symptoms.
Juvenile Huntington’s Disease
Juvenile Huntington’s disease is a rare form of Huntington’s disease that affects children and adolescents. It is caused by the same genetic mutation as the adult-onset form of the disease, but symptoms typically appear before the age of 20.
The symptoms of juvenile Huntington’s disease are similar to those of the adult-onset form of the disease but may progress more rapidly. Early symptoms may include changes in behaviour, declining school performance, and difficulty with movement and coordination. As the disease progresses, individuals may experience involuntary movements, cognitive decline, and difficulty with speech and swallowing.
Diagnosing juvenile Huntington’s disease can be challenging, as the symptoms may be mistaken for other conditions. Genetic testing can confirm the presence of the Huntingtin gene mutation, but this may not always be conclusive.
The Causes of Huntington’s Disease
Huntington’s disease is caused by a genetic mutation in the Huntingtin gene. This gene provides instructions for making a protein that is essential for the normal development and function of brain cells. The genetic mutation causes an abnormal form of the protein to accumulate in the brain, leading to the progressive damage and death of nerve cells in certain areas of the brain.
The Huntingtin gene is passed down from parents to their children in a dominant pattern of inheritance, which means that each child of an affected parent has a 50% chance of inheriting the mutation and developing the disease themselves. The genetic mutation is present from birth, but symptoms typically don’t appear until later in life.
In rare cases, Huntington’s disease can also occur spontaneously, without a family history of the disease. This is thought to occur due to a new mutation in the Huntingtin gene, rather than inheritance from a parent.
While the underlying cause of Huntington’s disease is well understood, much remains to be learned about the disease and how it progresses. Researchers continue to study the disease in the hopes of developing better treatments and ultimately finding a cure.
Diagnosing Huntington’s Disease
Huntington’s disease is typically diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies.
Clinical evaluation may involve a detailed medical history, physical examination, and neurological assessment. The doctor may look for signs of involuntary movements, cognitive decline, and changes in behaviour or mood.
Genetic testing is typically done to confirm the presence of the genetic mutation that causes Huntington’s disease. This may involve a blood test or other sample, which is analysed in a laboratory to detect the presence of the mutation.
Imaging studies, such as MRI or CT scans, may also be used to evaluate the structure and function of the brain. These studies can help identify changes in the brain that are characteristic of Huntington’s disease.
If someone has a family history of Huntington’s disease, they may be at risk for inheriting the genetic mutation that causes the disease. Genetic testing can be performed before any symptoms emerge to determine if an individual has inherited the mutation.
It’s important to note that genetic testing is a personal decision, and individuals should carefully consider the implications of testing before making a decision. Testing can have psychological and emotional effects and may impact decisions about family planning and other aspects of life.
The Huntington’s Association provides useful information on the genetic testing available.
Treating Huntington’s Disease
There is currently no cure for Huntington’s disease, and treatment primarily focuses on managing symptoms and improving the quality of life for those affected. Treatment may involve a multidisciplinary approach, including medication, therapy, and supportive care.
Medications may be used to manage various symptoms of the disease, such as chorea (involuntary movements) or psychiatric symptoms like depression or anxiety. These medications may include antipsychotics, antidepressants, or drugs that target specific neurotransmitters in the brain.
Therapy, such as physical therapy or occupational therapy, can help individuals maintain mobility, strength, and independence as the disease progresses. Speech therapy can also be helpful in managing communication difficulties.
Supportive care may involve providing assistance with daily activities, such as meal preparation or personal care, as well as emotional support for both the individual with the disease and their family members. Supportive care can also include supported living and residential care services like those provided by Liaise.
Living with Huntington’s Disease
Here at Liaise, we recognise that some people with Huntington’s disease may find it challenging to continue living safely and independently in their own homes as their condition progresses. We offer tailored support packages to people with complex or profound needs enabling them to live richer lives.
Our vibrant and welcoming communities allow people to enjoy a greater sense of independence in their own homes, with the reassurance that extra physical and emotional support is always available.
To learn more about our services, do not hesitate to contact our friendly team. We are here to help your family and provide impartial support and guidance.