Having a rare disease comes with its own difficulties. Huntington’s disease is only one of many diseases that brings with it unique and difficult symptoms. It is a life changing diagnosis to receive and there is a lot of misinformation that follows about this condition. This article means to explain what Huntington’s disease is, what causes it, and what you need to know about this diagnosis.
What Is Huntington’s Disease?
Huntington’s disease is a rare disease that causes degeneration or the breakdown of nerve cells in the brain. 3 to 7 people per 100,000 may develop Huntington’s disease. Those of European ancestry are at the highest risk. Huntington’s disease is less common in other populations such as people of Japanese, Chinese and African descent.
It’s a progressive disease, which means symptoms will, unfortunately, get worse for a person diagnosed with Huntington’s disease. It impacts a person’s ability to overall function physically, mentally, and cognitively. Most people who are diagnosed with this condition usually develop it in their 30s or 40s, but there are actually two subtypes of Huntington’s disease: Adult-onset and early-onset. With adult-onset, patients typically develop symptoms midlife. This is the most common type of this disease. With early-onset, this is the rare development of Huntington’s disease in children and adolescents. Early-onset is often referred to as Juvenile Huntington’s disease. The symptoms for those that develop this condition may differ in some ways and the disease may be more progressive for younger patients.
How Is Huntington’s Disease Diagnosed?
Those with symptoms of this disease are most often diagnosed based on genetic testing. Their medical history may also point to the disease. Brain imaging such as computed tomography (CT) scan, a magnetic resonance imaging (MRI) scan, or a positron emission tomography (PET) scan can help during the diagnosing period as they look for the degeneration of brain cells. Certain neurological and blood tests also aid doctors in accurately diagnosing a patient, especially a test that looks for the gene that causes this disease.
What Causes Huntington’s Disease?
A single gene in your family history can make you at risk. While many diseases need a defective gene from both parents, Huntington’s disease is an autosomal dominant disorder, which means it only needs one from one parent. If this gene is present within a family, each child in that very same family has a 50% risk of developing this condition. This inherited disorder is because of a mutation in the gene for a particular protein called huntingtin. Cytosine, adenine, and guanine (CAG) are building blocks of DNA and this defect causes them to repeat many more times than is average and normal in a person who does not have this inherited disease.
What Are The Physical Symptoms?
Huntington’s disease causes patients with this disease to face a wide variety of physical symptoms, including movement disorders. These may be involuntary movements or impairments involuntary movements we all rely on to complete everyday tasks.
Some Impaired Movements May Include:
- Speak issues
- Difficulties swallowing
- Rigid muscles
- Muscle contractions
- Abnormal or slow eye movements
- Balance, posture, and gait problems
What Are The Cognitive Symptoms?
Those with Huntington’s disease may face cognitive struggles that negatively impact how they navigate daily life.
Symptoms Can Vary, But Often Include:
- Struggling to process
- Struggles with focus
- Lack of flexibility
- Organizational issues
- Impulse control issues
- Lack of awareness of behavior
- Struggling to “find” certain words
- Difficulty learning new information
- Struggles with getting stuck on a single thought, behavior, or action
What Are The Psychiatric Symptoms?
Depression is common for those with this disease. Anytime anyone is diagnosed with a life-altering illness, depression can follow. But with Huntington’s disease, depression occurs from what is believed to be an injury to the brain, along with the depression of receiving such news. There are actual changes to brain function. Obsessive compulsive disorder, bipolar disorder, and mania may also develop. Other behavioral changes may occur that have an effect on everything from sleep to daily activities.
Other Psychiatric Disorders May Look Like:
- Loss of energy
- Withdrawing from socialization
- Sleep struggles such as insomnia
- Suicidal thoughts or frequent thoughts of death
- Feeling irritable, sad, or apathetic
As the disease progresses, patients will need help with everyday tasks. They will be bedridden and may not be able to speak. A person with Huntington’s disease most often understands what others around them are communicating, but some may struggle to recognize family members. As this stage approaches and patients lose their independence, there is a higher risk of suicide. Huntington’s disease has 3 stages: Early stage, middle stage, and late stage. Each stage may bring a wide variety of symptoms and may vary for each person.
But Overall, Here Are The Symptoms With Each Stage:
Early stage of Huntington’s disease:
- Mood issues
- Abnormal eye movements
- Problems detecting odors
- Behavioral disturbances
Middle stage of Huntington’s disease:
- Weight loss
- Speech issues
- An unsteady gait
- Slower reaction time
- Involuntary movements
- Twisting and writhing motions
- Balance issues and trouble walking
Late stage of Huntington’s disease:
- Muscle tension and rigidness
- Struggles with initiating and continuing movements (bradykinesia)
- Serious weight loss
- Inability to speak
- Swallowing difficulties
- Inability to walk
- Unable to care for oneself
What Are Some Complications Of This Disease?
A patient’s ability to function will gradually worsen with time. The progression of Huntington’s disease and its duration vary among those diagnosed with it. Most commonly, patients battle the illness for about 10 to 30 years before succumbing to it. Life expectancy for Juvenile Huntington’s disease is about 10 years for a patient. Those with this diagnosis are at a higher risk for suicide because of the clinical depression that accompanies it.
- Fall related injuries
- Complications due to the inability to swallow
Treatments For Huntington’s Disease
Currently, there is no treatment to stop or reverse the course of Huntington’s disease. Although some medications are prescribed to treat the symptoms of the disease such as depression and anxiety. And antipsychotic medications may be given to patients to help control the symptoms of hallucinations, delusions, and common outbursts that can be violent. It is recommended that these medications only be used when symptoms are severe enough to cause problems for a patient because of their side effects.
Common Side Effects Of These Medications
- Poor concentration
Here Are Other Ways To Manage The Disease
As the disease progresses, those with this condition will become physically dependent on caregivers. A person who has been diagnosed with this condition or is at risk for its development can start to manage future symptoms by maintaining physical fitness. Exercising regularly can help improve your quality of life. There are also exercise therapies to help with movement problems.
Therapy to treat the symptoms of anxiety and depression in a Huntington’s disease patient can be beneficial. Therapy is also part of the treatment plan for most people facing this diagnosis.
Having support on this disease’s journey is important. Talk to your doctor about resources so you can access community support.
Things You Prepare For Your Next Visit With Your Doctor
- Write down any questions for the doctor ahead of the appointment
- Bring someone with you to help you ask questions and to also listen so you can remember the most important aspects of your discussion with your doctor
- Ask what medications you may be prescribed, their purpose, and any potential side effects to make a list to keep for later
- Ask about alternative ways to treat your condition
- Know why a test or procedure may be ordered and its importance, including what the results may mean
- Know what to expect with each test and procedure
- Know what to expect if you do not take certain prescribed medications
- Keep track of any future appointment dates, times, and locations
- Know how to get in contact with your doctor if you have any future questions in-between appointments
What Support Options For Family Members?
If you are a loved one to someone who is diagnosed with Huntington’s disease you may understandably feel overwhelmed. You may also have had to take on the role of caregiver in the late stage of this disease. Ask your loved one’s doctor for resources that can help support you and your loved one on this journey. Having someone to help with caring for a Huntington’s disease patient may also help the family. Help may look like assistance with things like household chores or physical care. You can also contact health agencies in your area, reach out to support groups, and other assistance programs. Nursing assistance and other services may be available to you. Support can help lower the stress of the caregiver’s role.
Taking care of yourself is vital. Because of the stress of this condition on the entire family, talk with your doctor if you are struggling physically or mentally on this journey. Support groups for families can help you feel less alone by sharing with others who understand this diagnosis. You deserve support.
Those who have a loved one with this gene can undergo a blood test that looks for the same gene their family member has. The decision to test for the Huntington’s disease gene is a crucial decision and most often centers that do this testing require counseling before and after the predictive test.
A person who inherits Huntington’s gene will go on to develop the disease. However, a child who does not inherit it, will not develop it, and is unlikely to pass on the gene to other generations. Because Huntington’s disease is passed along by only one parent, those with a known history of Huntington’s disease may also benefit from genetic testing. There are family planning options if they have concerns about passing on this gene to their future children. A genetic counselor can help by talking over the overall risk of the development of this disease and provide alternatives to those planning their future family.
- Huntington’s disease is rare and only 3 to 7 per 100,000 people may develop it.
- There is currently no cure for Huntington’s disease.
- The goals of treatment are to manage symptoms so that a person can have the quality of life for as long as possible.
- If a parent has Huntington’s disease, their child has a 50% chance of developing it.
- Huntington’s disease affects a person’s emotional, physical, and intellectual abilities.
- As Huntington’s disease progresses, people with this diagnosis will need assistance 24 hours a day.
Regardless of the disease, a person hearing they are sick can be life-altering, but this is especially so for Huntington’s disease patients and their families. Not everyone will be able to understand this journey with Huntington’s disease. But for those who do, you are not alone. Whether as a patient or family member, there is support. And while there is currently no cure for Huntington’s disease, there are clinical trials researching this devastating condition. Diligent people are searching for ways to manage, treat and hopefully, one day cure Huntington’s disease. The hope is that hope itself will be a reality for those battling this condition. Until then, dedicated professionals are ready and available to show ways to improve overall quality of life for those with Huntington’s disease.
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Mayo Foundation for Medical Education and Research. (2020, April 14). Huntington’s disease. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117.
Role of a caregiver. Hdfi-usa. (n.d.). https://www.huntingtonsdiseasefoundation.org/role-of-a-caregiver.
Treatments. Stanford Health Care (SHC) – Stanford Medical Center. (2017, September 11). https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/huntingtons-disease/treatments.html.
U.S. Department of Health and Human Services. (n.d.). Huntington’s disease information page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Huntingtons-Disease-Information-Page.