The Silent Struggle: Understanding Huntington’s Disease and Its Impact

Written by: Josselyn Rafael 

ABSTRACT 

Huntington's disease (HD) is a rare, progressive neurodegenerative disorder caused by a genetic mutation in the HTT gene. While HD is most commonly associated with adult-onset symptoms, juvenile Huntington's disease (JHD), which occurs in individuals under 20 years old, presents unique challenges for teenagers. JHD is characterized by rapid progression and distinct symptoms, including behavioral changes, learning difficulties, motor impairments, and seizures. These symptoms significantly impact teenagers' quality of life, academic performance, and social interactions. 

This paper explores the physiological and psychological effects of HD on teenagers, focusing on early diagnosis, genetic counseling, and management strategies. Special emphasis is placed on the psychosocial burden faced by affected teenagers and their families, including stigma, emotional distress, and the need for specialized care. Understanding the unique aspects of HD in teenagers can lead to better support systems, early interventions, and improved quality of life for those affected. 

INTRODUCTION 

“Huntington's disease causes nerve cells in the brain to decay over time. The disease affects a person's movements, thinking ability and mental health.” (Mayo clinic, 2023). This condition profoundly impacts an individual’s movement, cognitive abilities, and mental health, making it one of the most debilitating genetic disorders. The disease is caused by a mutation in the HTT gene, which produces an abnormal huntingtin protein that damages neurons over time. While HD primarily affects adults between the ages of 30 and 50, its juvenile form can appear in children and teenagers, presenting unique challenges in diagnosis and management. 

The effects of HD are widespread and multifaceted. Motor symptoms such as involuntary movements (chorea), muscle stiffness, and difficulties with coordination gradually worsen, significantly impairing mobility and daily functioning. Beyond the physical symptoms, HD leads to cognitive decline, affecting memory, attention, and problem-solving skills. Over time, these impairments can make tasks like organizing, multitasking, and communication increasingly difficult. Additionally, the disease has a profound impact on mental health, often leading to depression, anxiety, and mood swings, which can further strain social relationships and overall quality of life. 

As a hereditary condition, Huntington's disease has far-reaching consequences not only for those directly affected but also for their families. Since the disorder is autosomal dominant, each child of an affected parent has a 50% chance of inheriting the mutation. This genetic certainty can create anxiety for families and individuals at risk, often requiring genetic counseling and support. Understanding the complexities of Huntington's disease is crucial for early diagnosis, effective symptom management, and the development of potential therapies to improve the lives of those impacted by this devastating disorder.

METHODS 

The method used in this research is a case study, which according to Cherry (2024) is "A case study is an in-depth study of one person, group, or event". In a case study, nearly every aspect of the subject's life and history is analyzed to seek patterns and causes of behavior. Everything in this study is based on certain events happening. 

RESULT 

Huntington's disease (HD) is rare in teenagers but can develop in a form known as juvenile Huntington's disease (JHD), typically appearing before the age of 20. JHD accounts for approximately 5-10% of all HD cases and often begins during adolescence, with symptoms such as behavioral changes, learning difficulties, and motor impairments. The earlier onset is usually associated with a larger number of CAG repeats in the mutated HTT gene, which accelerates the disease's progression. 

The development of HD is caused by a genetic mutation in the HTT gene, located on chromosome 4. This mutation leads to the production of an abnormal huntingtin protein that accumulates in the brain, damaging neurons over time. The gene mutation is inherited in an autosomal dominant pattern, meaning an affected parent has a 50% chance of passing it to their child. The larger the number of CAG repeats in the gene, the earlier and more severe the symptoms are likely to appear, which explains why JHD tends to present differently from adult-onset HD. 

Huntington's disease significantly impacts everyday life, particularly for teenagers who may struggle with school, social relationships, and personal independence. Motor impairments such as involuntary movements and difficulty with coordination can make simple tasks like writing, eating, or walking challenging. Cognitive decline often results in difficulty concentrating, organizing tasks, and keeping up with academic demands, leading to frustration and lower self-esteem. Mental health symptoms, such as depression and anxiety, can further isolate teenagers, making it harder for them to maintain friendships and participate in social activities. Families of affected individuals often face emotional, financial, and caregiving burdens as they adjust to the progressive nature of the disease. 

Currently, there is no cure for Huntington's disease. Treatment focuses on managing symptoms and improving the quality of life for affected individuals. Medications such as tetrabenazine or deutetrabenazine can help control chorea, while antidepressants and antipsychotics may be prescribed to address mood and behavioral symptoms. Physical therapy, speech therapy, and occupational therapy play crucial roles in managing motor impairments and maintaining independence for as long as possible. Advances in research, including gene therapy and RNA-targeting treatments, offer hope for slowing the progression of the disease and potentially finding a cure in the future. 

CONCLUSION 

Huntington's disease, particularly its juvenile form (JHD), presents significant challenges for affected teenagers and their families. The disease arises from a genetic mutation in the HTT gene, leading to progressive damage to nerve cells in the brain. This results in motor impairments, cognitive decline, and mental health issues, which profoundly impact everyday life, including academic performance, social interactions, and personal independence. 

Despite advancements in understanding the genetic basis of the disease, there is currently no cure for Huntington's disease. Symptom management through medications, therapies, and psychosocial

support remains the primary approach to improving the quality of life for those affected. Continued research into gene therapy and innovative treatments holds promise for altering the course of the disease and potentially providing a cure in the future. Addressing the physical, emotional, and social challenges associated with HD requires a comprehensive, multidisciplinary effort to support patients and their families as they navigate the complexities of this condition. 

References: 

Mayo Clinic Staff. "Huntington's Disease." Mayo Clinic, 14 Oct. 2023, 

www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117. 

Chery, Kendra. "How to Write a Psychology Case Study." Verywell Mind, Dotdash Meredith, 5 Oct. 2023, www.verywellmind.com/how-to-write-a-psychology-case-study-2795722.