10 Symptoms of Huntington's Disease

Huntington’s disease causes a gradual loss of cognitive function, often leading to a form of dementia known as subcortical dementia. This affects areas like attention, concentration, and impulse control, as well as memory, problem-solving, and abstract thinking. Many people struggle to find the right words or retain new information. Depression and social withdrawal are also common symptoms as the disease progresses.

Huntington's disease can cause difficulties with swallowing, issues attributed to abnormal muscular movements and loss of coordination, as well as appetite loss and cognitive deterioration. People often find it difficult to feed themselves because they can no longer use utensils properly. Even with help, trouble swallowing can make consumption difficult or impossible, leading to spills or choking. Trouble eating can result in nutritional deficiencies and dehydration.

Huntington's disease leads to involuntary movements called "chorea," which also impairs voluntary movement. This disease is the most common inherited cause of the symptom. Chorea describes semi-purposeful, dance-like, erratic movements and is one of the earliest symptoms of the disease. It manifests initially as uncontrollable facial twitches, jerky limb movements, clumsiness, loss of coordination and balance, and abnormal eye movements. Later, the muscles become more rigid, and the individual starts to experience abnormal posture and writhing movements. Chorea is less common in the advanced stages as the muscles become more rigid and movement becomes more difficult.

The jerky and unintentional movements a person with Huntingon's develops tend to worsen during walking, leading to a wide-based gait called "hyperkinetic gait"; "hyper" means to increase, and "kinetic" refers to movement. It is easy to identify, causing slow motion with involuntary flexion of the knee and raising of the leg. Movements are often jerky and may be accompanied by other extraneous movements of the upper or lower body. Hyperkinetic gait also affects people with other basal ganglia disorders.

Behavioral problems are particularly distressing, not only for the individual with Huntington's disease but for their family or caregivers, as well.

• Loss of initiative and drive: the person may lose motivation, which can be misconstrued as laziness before they receive a diagnosis.
• Irritability and aggressive behavior: Huntington's can lead to agitation and flare-ups of anger for no apparent reason.
• Loss of empathy and sympathy towards others and the failure to recognize the emotional needs of loved ones.
• Reduced self-care and attention to hygiene.
• Apathy: initial aggression and irritability eventually give way to apathy, as the disease progresses.

Not everyone with Huntington's develops depression, but it is a common symptom that affects more than 30% of individuals. Signs of depression include lack of sleep, lack of energy, sadness, feeling tired, and suicidal thoughts. Around a quarter of people with the disease also develop elements of obsessive-compulsive disorder, which leads to recurrent thoughts or impulses that cause anxiety and distress. While neither symptom is in itself indicative of Huntington's disease, both should indicate a need for medical attention.

Huntington's can affect all aspects of communication. People with the disease may be unable to write properly due to involuntary movements and find it difficult to focus enough to read or process complex and abstract information. Additionally, people with Huntington's may struggle to think of or verbalize the correct words, making conversation slow and difficult. All of these symptoms can increase feelings of isolation and loneliness.

Not every individual with Huntington's will experience sexual problems, and the issues vary from person to person. Early in the development of the disease, some people become withdrawn and their libidos decrease. The rise of involuntary movements may make intimacy difficult, and other symptoms such as depression and loneliness can also exacerbate these issues. In some cases, behavioral symptoms may cause individuals to say things or act in ways that are inappropriate.

Huntington's disease does not make one more likely to develop dental problems. However, because individuals require a high-energy diet, many consume too much sugar. This, combined with coordination or mental health issues that inhibit dental hygiene can result in tooth decay or gum disease. These issues can be difficult to treat because people with Huntington's are unable to keep still or keep their mouths open during dental treatment.

Despite the physical, cognitive, and psychological symptoms people with Huntington's develop, some continue to refute the existence of their disease. This may be due to the mental health effects of the disease, which interfere with self-awareness and self-monitoring. Whatever the reason, this denial can cause issues with caregivers and loved ones. Refusing to accept a diagnosis of Huntington's disease can lead to delays in treatment.

While most treatments today focus on easing symptoms and supporting quality of life, research continues to push for more effective solutions. A recent breakthrough in gene therapy, AMT-130, has shown the potential to slow the progression of Huntington’s disease by reducing the production of the harmful huntingtin protein. Although still in clinical trials, these findings represent the first strong evidence that the course of the disease can be altered, not just managed. While standard care with medications, therapies, and lifestyle support remains essential, emerging advances like gene therapy offer new hope for the future, giving patients and families reason for optimism about improved long-term outcomes.