Understanding Huntington’s Disease: A Patient Guide

Huntington’s disease is a rare, inherited condition that affects the brain and causes progressive damage to nerve cells. This guide explains the disease, its causes, symptoms, treatments, and how to manage living with it.

What is Huntington’s Disease?

Huntington’s disease is a genetic disorder that causes the gradual breakdown of nerve cells in the brain. This leads to problems with movement, thinking (cognition), and emotions. It is a progressive condition, meaning symptoms worsen over time. The disease is caused by a mutation in a single gene and is passed down through families.

Background on Huntington’s Disease

• History: Huntington’s disease was first described in 1872 by Dr George Huntington, an American physician.
• Global Impact: While rare, Huntington’s disease has significant effects on individuals and families due to its hereditary nature and progressive symptoms.

Causes, Incidence, and Prevalence

Causes

Huntington’s disease is caused by a mutation in the HTT gene, which provides instructions for making a protein called huntingtin. In people with Huntington’s disease, this gene contains an abnormally long sequence of repeated DNA segments (CAG repeats). The longer the repeat sequence, the earlier symptoms tend to appear and the more severe the disease becomes.

Incidence and Prevalence

• Incidence: Around 5–10 new cases per 100,000 people are diagnosed annually worldwide.
• Prevalence: Approximately 1 in 10,000 people in Europe and North America have Huntington’s disease. It is rarer in Asian and African populations.

Who is Affected?

• Age of Onset: Symptoms typically appear between the ages of 30 and 50 but can occur earlier (juvenile Huntington’s disease) or later in life.
• Gender: Both males and females are equally affected.
• Ethnicity: Huntington’s disease is more common in people of European descent compared to other ethnic groups.

How Does Huntington’s Disease Impact You?

Symptoms

Symptoms of Huntington’s disease vary widely but generally fall into three categories:

1. Movement Problems:
   1. Involuntary jerking or writhing movements (chorea).
   2. Difficulty with coordination and balance.
   3. Muscle stiffness or rigidity.

2. Cognitive Issues:
   1. Difficulty concentrating or making decisions.
   2. Memory problems or confusion.
   3. Reduced ability to plan or organise tasks.

3. Emotional and Behavioural Symptoms:
   1. Depression or anxiety.
   2. Irritability or mood swings.
   3. Social withdrawal or apathy.

As the disease progresses, these symptoms can become more severe, eventually leading to difficulties with speech, swallowing, and mobility.

Living With Huntington’s Disease

Living with Huntington’s disease can be challenging due to its impact on physical abilities, mental health, and daily activities. Support from healthcare providers, family members, and support groups is essential for managing symptoms and maintaining quality of life.

Expected Life Expectancy

The average life expectancy after symptom onset is around 15–20 years. However, this can vary depending on the severity of symptoms and access to care.

Managing and Treating Huntington’s Disease

Available Treatments

While there is no cure for Huntington’s disease, treatments focus on managing symptoms and improving quality of life:

1. Medications:
   1. Movement Symptoms:Drugs like tetrabenazine or deutetrabenazine can help reduce involuntary movements (chorea).
   2. Mood Disorders: Antidepressants or antipsychotic medications may be prescribed for depression, anxiety, or irritability.
   3. Cognitive Symptoms: No specific medications exist for cognitive decline in Huntington’s disease; however, supportive care can help manage these challenges.

2. Supportive Therapies:
   1. Physical Therapy: Helps improve mobility, balance, and strength.
   2. Speech Therapy: Assists with communication difficulties as well as swallowing problems.
   3. Occupational Therapy: Provides strategies for maintaining independence in daily activities.

3. Lifestyle Adjustments:
   1. A balanced diet with adequate hydration can help manage weight loss due to increased energy expenditure from involuntary movements.
   2. Regular exercise may improve mood and physical function.

Ongoing Clinical Research

Research into Huntington’s disease continues to explore new treatments aimed at slowing progression or addressing specific symptoms:

• Gene Silencing Therapies: Experimental treatments like antisense oligonucleotides (ASOs) aim to reduce the production of abnormal huntingtin protein.
• Stem Cell Therapy: Investigating whether stem cells can repair damaged brain tissue.
• Neuroprotective Drugs: Trials are underway for medications that may protect nerve cells from damage.
• For information on clinical trials related to Huntington’s disease, visit gov.

Support Groups and Resources

If you or a loved one has been diagnosed with Huntington’s disease, connecting with support groups can provide valuable information and emotional support:

• Huntington’s Disease Association (UK) (org.uk)– Offers resources for patients and families living with Huntington’s disease in the UK.
• European Huntington Association (EHA) (org) – Provides advocacy for individuals living with Huntington’s across Europe.
• Huntington’s Disease Society of America (HDSA) (org)– Focuses on education, research funding, and support for patients in the USA.
• Rare Disease UK (org.uk)– Supports individuals living with rare conditions like Huntington’s disease.Remember:

  This information is intended for general knowledge and educational purposes only and does not constitute medical advice. It is essential to consult with a qualified healthcare professional for any health concerns