What impacts does it have?
Unless you have a family history of or know someone with Huntington’s disease, you’ve probably never heard of it. Since it’s a rare genetic condition, this isn’t surprising. What type of problems does it cause? How likely is it to occur? Can it be treated?
Huntington’s disease is caused by an inherited defect of a single gene. With most genes, except the sex chromosomes, a person inherits two copies of every gene (one copy from each parent). If a parent has a defective copy of a gene, they have a 50% chance of passing it to each child. Since a person needs only one copy of the defective gene to develop the disorder, it’s an autosomal dominant disorder.
Huntington’s has a broad spectrum of symptoms across movement, cognitive, and psychiatric areas. Typically, symptoms appear when a person is in their 30s or 40s but can develop prior. If they appear earlier, it’s called juvenile Huntington’s disease, and symptoms are different and develop faster. The symptoms can change throughout the illness. Movement symptoms include involuntary jerking/writhing movements (chorea), muscle problems (ex. rigidity or muscle contracture—dystonia), slow/abnormal eye movements, impaired gait/posture/balance, and difficulty with speech/swallowing. Impairments in voluntary movements may have a more significant impact on a person than issues with involuntary ones. Cognitive symptoms are difficulty organizing/prioritizing/focusing on tasks, lack of flexibility/the tendency to get stuck on a thought/behavior/action (perseveration), lack of impulse control that can result in outbursts/acting without thinking/sexual promiscuity, lack of awareness of one’s behaviors/abilities, slowness in processing thoughts/finding words, and difficulty in learning new information. Psychiatric symptoms are feelings of irritability/sadness/apathy, social withdrawal, insomnia, fatigue/loss of energy, frequent thoughts of death/dying/suicide, obsessive-compulsive disorder, mania, and bipolar disorder. For juvenile Huntington’s disease, the symptoms are difficulty paying attention, rapid/significant drop in overall school performance, behavioral problems, contracted/rigid muscles that affect gait, tremors/slight involuntary movements, frequent falls/clumsiness, and seizures.
Once Huntington’s starts, it gradually worsens over time with the rate of disease progression and duration varying. Unfortunately, the affected person usually dies within 10 to 30 years. For juvenile Huntington’s, death often occurs within ten years. Until that point, these individuals can experience several complications. As the disease progresses, individuals will need increasing help with activities and eventually be confined to a bed and unable to speak.
There isn’t a cure for Huntington’s disease. So, treatment is focused on lessening symptoms and allow individuals to be independent for as long as possible. Medications are used to help with movement disorders. Two, tetrabenazine and deutetrabenazine, have been approved by the Food and Drug Administration (FDA) to suppress chorea for those with Huntington’s. Other medications that help with this are haloperidol, fluphenazine, risperidone, olanzapine, quetiapine, amantadine, levetiracetam, and clonazepam. A different class of medications assists with psychiatric conditions causes by the disease. These can include citalopram, escitalopram, fluoxetine, sertraline, quetiapine, risperidone, olanzapine, divalproex, carbamazepine, and lamotrigine. Often the medicines you need to take will depend on what symptoms you’re experiencing. Your doctor will help you to figure out the best ones.
Besides medication, you’ll need various kinds of therapy as well. Psychotherapy can provide talk therapy to help with behavioral problems, develop coping strategies, manage expectations, and encourage effective communication. Speech therapy aids in improving your ability to speak clearly/how to use communication devices while focusing on challenges associated with eating/swallowing. Physical therapy will provide you with exercises that increase strength, flexibility, balance, and coordination. These will allow you to maintain mobility and reduce the risk of falls. Occupational therapy will educate you and your family/caregivers on assistive devices that improve functional abilities.
Individuals with Huntington’s are prone to weight loss because it’s challenging for them to maintain a healthy weight since they have difficulty with chewing/swallowing/fine motor skills and unknown metabolic problems from the disease. You can do things to combat these changes, such as remove distractions during meals, selecting foods that are easier to eat, and using utensils designed for those with limited fine motor skills.
In managing cognitive/behavioral challenges and avoiding stressors, specific strategies can be implemented. This can include using calendars/schedules to keep a routine, initiating tasks with reminders/assistance, prioritizing/organizing work/activities, breaking down tasks into manageable steps, producing an environment that is calm/structured/simple, identifying/avoiding stressors, and providing opportunities to maintain social interactions/friendships.
Another consideration is planning for the later stages of the disease. It’s essential to have the discussion early enough in the disease process that the affected individual can participate in the conversation and make their preferences known. Topics that should be covered are care facilities (in-home, assisted living, or nursing home), hospice care, living wills (clearly states the person’s preferences when they can no longer make decisions), and advance directives (enable an appointed person/persons to make decisions on your behalf for medical or financial matters or both).
Since Huntington’s disease is a genetic condition, it can’t be prevented without the help of a genetic counselor. If you or your partner has a family history of the disorder, this is a vital step. They can help guide you through prenatal testing or using in vitro fertilization. With in vitro, you have two options, using donor sperm/eggs or preimplantation genetic diagnosis (eggs are removed and fertilized with sperm in a laboratory, the embryos are tested for the presence of the defective gene, and only those testing negative are implanted into the uterus).
Finding out you have Huntington’s disease can be devastating. With the right interventions, you can have an independent, fulfilling life for as long as possible. If you have any questions or concerns about Huntington’s disease, please speak with your doctor. If you would like more information, please visit the Huntington’s Disease Society of America at https://hdsa.org/