By: Jaclyn Kotora, Contributing Writer
Edited by: Olivia Storti, Editor; Elias Azizi, Editor in Chief
Huntington’s Disease (HD) is an inherited, untreatable brain disorder that causes neurons to die in various areas of the brain. It affects all sexes, races, and ethnic groups. This disorder is caused by a DNA error in a gene called huntingtin. Everyone possesses the huntingtin gene, but only those that inherit the HD mutation develop HD. Over time, the mutated huntingtin protein can form clumps in brain cells, causing the brain to become damaged, especially in vulnerable places such as the striatum, which controls movement, memory, and mood.
HD and its symptoms become progressively worse over time. According to The Alzheimer's Association, “symptoms of Huntington's disease usually develop between ages 30 and 50, but they can appear as early as age 2 or as late as 80.” Symptoms include movement, cognitive, and psychiatric impairments. Common physical disabilities are involuntary jerking, muscle rigidity or contracture, impaired posture and balance, and difficulty with speech or swallowing. Cognitive impairments are also often found among people with HD, such as difficulty organizing and focusing, lack of impulse control, lack of awareness, difficulty learning, and slowness of thought. Perhaps the most common symptom of HD, however, is depression. Patients may also develop mood changes such as anxiety, irritability, apathy, fatigue, or anger. Over time, these symptoms make it very difficult for one to complete day-to-day activities and accommodate physical necessities. “People with advanced HD need full-time care to help with their day-to-day activities, and they ultimately succumb to pneumonia, heart failure or other complications," Huntington’s Disease Society of America (HDSA) explains, "symptoms of HD are sometimes described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.” The average time from the emergence of the HD to death is 10 - 30 years, although Juvenile Huntington’s Disease, an earlier onset form of HD, often results in death after only ten years.
Although there is no treatment that can stop or reverse the course of HD, there are treatments to manage the symptoms, prevent complications, and provide support and assistance to patients and their friends and family. For one, drugs can be prescribed to help ease uncontrolled movements, hallucinations, delusions, violent outbursts, mood swings, depression, anxiety, and many other symptoms. Besides medication, various types of therapy may benefit patients with HD. The Mayo Clinic suggests that psychotherapy, speech therapy, physical therapy, and occupational therapy can help patients in the following ways: help manage behavioral problems, cope with the progression of the disease, establish support and communication within families, improve ability to communicate, and teach safe ways to maintain and enhance strength, flexibility, mobility, balance, and coordination. Even individually, there are many ways to manage symptoms through lifestyle choices like prioritizing eating and nutrition, keeping a regular routine, breaking down tasks into manageable steps, identifying and avoiding unnecessary stressors, and surrounding oneself in a calm, safe environment.
In terms of diagnosis, HD is generally diagnosed based on a genetic test, medical history, brain imaging, and neurological and laboratory tests. Neurological examinations test an individual’s motor, sensory, and psychiatric symptoms, while Neuropsychological testing checks one’s memory, reasoning, mental agility, and language skills. Additionally, psychiatric evaluation and brain imaging, including MRI or CT scans, can contribute to an HD diagnosis. If there is strong evidence of symptoms that suggest HD or the patient has a family history of the disease, genetic testing may be recommended. However, not all people want to take the test given the absence of effective treatment—they may see no benefit in knowing if they will develop the disease. Others may want to know so they can plan their future. There are many benefits and drawbacks of learning test results, and the decision to do so is solely personal. Since the implications of the disease are so complicated and severe, genetic testing for children is typically prohibited before the age of 18, unless it is to confirm a diagnosis of juvenile-onset HD after a neurological exam. There is also prenatal planning for families concerned with passing on the HD-causing gene to their newborns. As HDSA states, “Pre-genetic diagnostic (PGD) testing can be used with In Vitro Fertilization (IVF) to make sure that any fertilized egg implanted does not have the abnormal gene… If a woman is already pregnant, she can receive testing for the fetus with a chorionic villus biopsy at 10-11 weeks or via amniocentesis at 14-18 weeks.” A child of a parent with HD has a 50-50 chance of inheriting the HD-causing gene. If the child does not inherit the gene, they will not develop the disease and generally can not pass it on to their future offspring. However, a child with the gene will develop the disorder over time.
Huntington’s Disease is a severe genetic disorder that affects more than 30,000 Americans. Although there are, unfortunately, no existing treatments or cures for the disease, there are various ways to manage the symptoms of HD to allow one to live the best life they can with this deteriorating disorder. Since the implications of HD are fatal, it is up to each individual if they wish to take testing to determine a diagnosis.
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