Huntington’s disease (HD) is a hereditary degenerative brain disorder. Once inherited, the disease can be managed but not cured and can be fatal. Often broken up or classified over different stages, the disease gets worse over time and requires more intensive care.
A 2012 study in the United Kingdom found that about 12 people in 100,000 were affected by the disease. If you have a parent that has HD, you have 50% chance of inheriting the condition. The majority of Huntington’s cases typically present in adults aged 30-40 but the disease can affect people both younger than 30 and over 40.
While rare, it is possible for HD to develop in those younger than 20. This is called juvenile Huntington’s disease and is associated with faster progression of the disease and some differences in symptoms or onset. Despite being a somewhat rare disease, it is a very serious one that can deeply affect someone and those around them. Being diagnosed with HD is a life-changing event.
Many people with HD will live independently for years during the early stages. As symptoms become more pronounced, there are many ways to manage the disease through a variety of treatments. This can help greatly to maintain a positive quality of life for the person affected for as long as possible, but unfortunately, the progression of the disease cannot be reversed. By the late stage, the individual will require intensive professional medical care and will not be able to function independently.
Usually, during this stage, those affected with HD will have to transition to a long term care facility where they can be assisted and monitored by healthcare professionals. The time frame from diagnosis of HD until death varies from person to person but typically ranges from 10-30 years. Juvenile HD is different with the time frame being on average about 10 years from diagnosis to death. Since researchers identified the HD gene over a decade ago, there has been a push to identify more effective treatments and to seek out a cure for Huntington’s.
HD symptoms can be classified into three main areas; movement disorders, cognitive disorders and psychiatric disorders. The onset for juveniles is slightly different; early-on symptoms will appear in the form of physical and behavioral changes.
It’s also important to understand that in the early stages, a person affected can experience symptoms from one or more of the three main areas. For example, Person A might be showing signs of movement disorders but not cognitive or psychiatric, Person B might show signs of HD symptoms in two or more of the disorder categories. By the middle stage, most people affected by HD will exhibit symptoms from all three of the categories, and while many of the symptoms generally get worse as the disease progresses, others may stay constant or subside.
Symptoms of HD are usually classified into three main stages although some symptoms may be present throughout the course of the disease.
During the first stage or early stage, the disease may present with symptoms that are hard to notice or gradually increasing from a low to moderate impact on daily life and health. Some of the early stage symptoms include; slight changes in balance or coordination, feeling slow or stiff, uncontrollable movements/muscle spasms, trouble thinking or solving problems, irritability, and depression.
The second or middle stage of HD is when symptoms become much more noticeable, ranging from moderate to severe, affecting daily life and health much more. Regular activities and tasks will become harder to do and may often require help from family members, friends or healthcare professionals. In this stage, many of the early stage symptoms worsen or become more pronounced. This can be very physically and emotionally difficult for both the person affected by HD and those around them.
During the final stage of Huntington’s or the late stage, the disease will severely impact the daily life and health of the person affected. At this point, they will have to depend on others for care and management of the symptoms. In the last stage of HD, both speaking and walking become very difficult, if not impossible; involuntary movements may become more extreme or subside. The person will generally still understand language and what is going on around them and be aware of others. It is also possible for Huntington’s to be fatal at this stage, usually as a result of a complication related to a symptom, for example, choking due to difficulty swallowing or infection.
Huntington’s disease is hereditary. If a parent has had HD then the child has a 50/50 chance of inheriting the disease. Research has found that everyone carries the HD gene but the abnormal copy of the gene only gets passed on from parent to child in limited numbers of families. Either you carry the abnormal gene (gene positive), or you don’t, and if you don’t, it can’t be passed on to your children (gene negative). The disease does not skip generations – if a grandparent had HD but their children did not inherit the abnormal gene it is not possible for the children of their children to inherit HD.
The disease is not contagious or passed/contracted via person to person contact or contact with bodily fluids. In scientific terms with the exception of sex chromosome genes, we inherit two copies of every gene – specifically one copy from each parent. A parent with the abnormal gene could pass along the defective copy of the gene or the healthy copy. It is also important to note that HD affects both men and women equally.
Treatment of Huntington’s mainly involves the managing of symptoms since there is no known cure for the disease. A series of tests are conducted to determine whether or not a person has HD; this involves psychiatric evaluation, neurological evaluation, brain imaging and neurophysiological evaluation. These tests will confirm if symptoms are in line with Huntington’s disease and what the next steps will be. Once a person is diagnosed with HD, there are many options for managing symptoms which aim to reduce the effects and help maintain an affected individual’s quality of life for as long as possible. Self-management of symptoms is possible during the onset and early stages of HD but it is recommended that anyone diagnosed start working with healthcare professionals and available treatments as soon as possible.
For movement disorders, physical or occupational therapy can help a person to adjust to changes in their movements and physical abilities. Those who exercise and stay fit during the early and middle stage do much better over the course of the disease than those who do not exercise.
Nutrition is another key element of managing HD. Since the disease causes significant weight loss, it is important to maintain a healthy diet for as long as possible and again, people that maintain a healthy diet do much better over the course of the illness than those who do not. A nutritionist can develop a healthy nutrient-dense diet for an HD patient, even in the later stages when a patient must be fed by a feeding tube or with special utensils. Managing cognitive disorders is usually done with speech therapy to help maintain speech ability or ability to swallow. A speech therapist can also help someone with HD develop other ways to communicate as the disease makes it harder or impossible to speak by using pictures or other communication aides.
To manage psychiatric disorders, people suffering from HD will often get help from a psychotherapist or talk-therapist. This allows a person to develop coping strategies, work through problems or psychological symptoms such as depression and maintain communication skills and communications with family members or loved ones. Huntington’s is a life changing disease that can often leave someone affected by the illness as well as those around them feeling alone and depressed.
It is important for those dealing with the illness to understand that they are not alone. There are support groups and other resources to help connect with others going through HD and treatment options. Throughout the course of HD, various drug treatments are used to help mitigate symptoms of HD. Medication or doses may change over time but can be very helpful in managing symptoms and prolonging quality of life.
Over time, those with HD will undergo treatment in all three areas. The treatment plan and goals will change over time depending on how the person responds to certain treatments and how fast the disease progresses. Research to better understand Huntington’s disease and to identify more effective drug and therapy treatment is still ongoing with real world trials and scientific analysis.
Huntington’s disease cannot be prevented due to the fact it is genetically inherited, however, the sooner treatment begins the better the chance of managing certain aspects of the disease. Since prevention is not possible, it is important to identify if other family members have had the disease and if you or a family member are at risk. A genetic test can be performed which examines your family history and DNA to determine if you have or are at risk for Huntington’s; a general physical exam, neurological and psychiatric examinations will also be performed.
The tests will be conducted by healthcare professionals and will consist of several sessions with results usually taking a few weeks to receive. You should consult with your doctor if you notice any of the early symptoms of Huntington’s disease.
The signs and symptoms of Huntington’s disease can often be caused by a number of different conditions. It’s important to get a timely and thorough diagnosis especially if you are at risk of inheriting the disease. Your physician can also help you identify the next steps to take, refer you to other specialists and help you find valuable resources for understanding and dealing with Huntington’s disease.