How Common is Huntington’s Disease? And Other Commonly Asked Questions

Huntington’s Disease (HD) is a complex and progressive neurological disorder that profoundly affects both the physical and mental aspects of those diagnosed. This genetic disorder is characterised by the degeneration of nerve cells in certain areas of the brain, leading to a range of motor, cognitive, and psychiatric symptoms.

Huntington’s disease is a relatively rare genetic disorder, but its prevalence can vary by population and geographic region. In general, it is estimated that Huntington’s disease occurs in about 3 to 7 per 100,000 people of European descent. The occurrence is lower in other ethnic groups – however, it’s also important to note that these statistics are estimates, and the actual frequency may vary.

Yes. Huntington’s Disease is primarily caused by a mutation in the HTT gene, located on chromosome 4. This genetic anomaly, in turn, leads to progressive damage in various regions of the brain over time. The risk of developing Huntington’s Disease typically arises when one of the parents either has or had the condition. It is important to note that both men and women can be susceptible to the disease.

According to the NHS, if a parent has the Huntington’s Disease gene:

• There’s a 50% chance that each of their children will inherit the gene and develop the condition. These affected children can also pass the gene to their own children.
• There’s another 50% chance that each of their children won’t inherit the gene and, therefore, won’t develop the condition. Unaffected children, in this case, can’t pass the condition on to their own children.

On rare occasions, it is possible to develop Huntington’s Disease even in the absence of a family history. However, such instances often occur when one of your parents was not formally diagnosed with the condition.

Huntington’s disease is characterised by a progressive deterioration of physical, cognitive, and psychiatric functioning. The early signs and symptoms can vary from person to person, and they may be subtle and easily overlooked. The disease typically manifests in mid-adulthood, but it can appear at any age.

In the early stages, individuals may exhibit:

• Chorea – involuntary and jerky movements that can impact the face, arms, and legs.
• Motor impairments – includes coordination and balance issues.
• Cognitive decline – another hallmark of Huntington’s Disease, leading to difficulties in memory, concentration, and overall cognitive processing.
• Mood changes – depression, irritability, and mood swings are common, as are alterations in personality and behaviour, often resulting in social withdrawal.
• Impulsivity – challenges in organising thoughts and planning tasks can also emerge in the early stages of Huntington’s Disease.

It’s advisable to consult with your GP if:

• You’re concerned about experiencing symptoms associated with Huntington’s disease, particularly if a family member has been diagnosed with the condition.
• There’s a history of Huntington’s disease in your family, and you’re seeking guidance on the likelihood of inheriting the gene and developing the condition yourself.
• You’re planning a pregnancy, and there’s a history of Huntington’s disease in your family. Discussing your family history with your GP can help you understand the potential risk and explore available options.

Yes, Huntington’s Disease can be diagnosed before symptoms appear through genetic testing – a valuable tool for individuals with a family history of Huntington’s Disease who wish to determine if they carry the mutation. It’s also crucial to understand that a positive genetic test result confirms the presence of the Huntington’s Disease gene mutation but does not predict the age of onset or specific symptoms. Due to the emotional and psychological implications, some individuals may choose not to undergo genetic testing. For those testing positive, collaboration with healthcare professionals becomes essential to monitor health, plan for the future, and make decisions related to family planning and care preferences.

Yes, early symptoms of Huntington’s Disease can resemble other disorders, leading to misdiagnosis. Conditions that may share some overlapping symptoms with Huntington’s Disease include:

• Parkinson’s Disease – both Huntington’s Disease and Parkinson’s disease can involve movement abnormalities, though the specific nature of these movements differs. Parkinson’s disease is characterised by tremors, stiffness, and slowness of movement.
• Wilson’s Disease – this is a rare genetic disorder that can lead to movement problems, similar to those seen in Huntington’s Disease. Wilson’s disease is characterised by the accumulation of copper in the body.
• Psychiatric Disorders – the mood changes and psychiatric symptoms associated with Huntington’s Disease, such as depression and irritability, may initially be attributed to other psychiatric conditions.
• Drug-Induced Movement Disorders – certain medications or substance abuse can lead to movement abnormalities that might be confused with early Huntington’s Disease symptoms.

While these conditions may share some symptoms with Huntington’s Disease, each has distinct characteristics, and a thorough medical evaluation, including genetic testing, is essential for an accurate diagnosis. If you or someone you know is experiencing symptoms suggestive of Huntington’s Disease, consulting with a healthcare professional is crucial for a comprehensive evaluation and accurate diagnosis.

Currently, there is no cure for Huntington’s Disease. While ongoing research holds promise for potential future treatments, the primary goal of current medical care is to alleviate specific symptoms and provide support to individuals and their families navigating the challenges associated with Huntington’s Disease.

Huntington’s Disease progressively impacts motor skills, cognitive functions, and emotional well-being, resulting in symptoms like involuntary movements, cognitive decline, and mood disorders.

Example: Josh may find it increasingly challenging to control his hand movements, exhibit difficulty in remembering familiar tasks, and grapple with mood swings that affect his overall emotional state.

Huntington’s Disease has profound effects on families, encompassing emotional, social, and financial dimensions. The emotional toll is substantial as families witness their loved ones grapple with the progressive nature of the disease, marked by changes in behaviour and cognitive function. Social dynamics within the family can be strained as roles shift to accommodate the needs of the affected individual.

Additionally, the financial burden may arise from medical expenses and the necessity for specialised care. In the face of these challenges, caregivers emerge as pivotal figures within the family structure – providing essential support to individuals affected by Huntington’s Disease. Their role extends beyond physical care to encompass emotional support and navigation of the complexities associated with the disease. The impact on families underscores the need for a comprehensive approach to address the multifaceted challenges posed by Huntington’s Disease.

Yes, various organisations and support groups provide information, counselling, and assistance for individuals and families affected by Huntington’s Disease.