Pathology of Huntington’s Disease:
Huntington's disease is a neurodegenerative genetic disorder that affects muscle coordination, cognitive function, and behavior. It is passed down from one generation to the next in families. Huntington’s disease is caused by a faulty gene that creates an abnormal protein in the brain. This protein builds up and damages nerve cells, especially in areas that control movement and thinking. Over time, this leads to problems with movement (like jerky movements), memory, and mood. It gets worse over time, and there is ongoing research focused on developing treatments for Huntington's disease. This disease primarily affects the brain, particularly areas like the striatum (part of the basal ganglia), which controls movement. It also impacts the cortex, which is involved in thinking, memory, and emotions. So, while the disease originates in the brain, it causes widespread effects on movement, cognition, and mood.
Origins of Huntington’s Disease:
Huntington's disease (HD) was first described in 1872 by American physician George Huntington, who identified it as a hereditary disorder with movement, cognitive, and behavioral symptoms. In the 1980s, researchers linked HD to a gene on chromosome 4, and in 1993, they discovered the genetic cause: an abnormal expansion of the CAG (Cytosine-Adenine-Guanine). Repeat in the HTT gene. This breakthrough led to genetic testing, allowing people to determine their risk for the disease.
The Impact of Huntington’s Disease on Patients:
Huntington's disease (HD) typically affects individuals in mid-adulthood, with symptoms often appearing between the ages of 30 and 50. However, it can occur earlier or later.
• Early-onset HD: This occurs in individuals under the age of 20-30, though it is less common. Symptoms tend to progress more rapidly in these cases.
• Late-onset HD: In some cases, symptoms may begin after the age of 50, and the disease may progress more slowly.
Symptoms of Huntington’s Disease:
Following are the symptoms of Huntington’s disease:
• Movement Disorders:
• Chorea: This is the most characteristic symptom of Huntington's disease. It involves involuntary, jerky movements that can affect any part of the body.
• Dystopia: This involves sustained muscle contractions that cause abnormal postures.
• Rigidity: This involves stiffness and resistance to movement.
• Bradykinesia: This involves slowness of movement.
• Akinesia: This involves a loss of movement.
Cognitive Decline:
• Memory problems: This can include difficulty remembering new information, forgetting appointments, and misplacing things.
• Executive function deficits: This can include difficulty with planning, organizing, and decision-making.
• Attention problems: This can include difficulty focusing and staying on task.
• Slowed thinking: This can include difficulty processing information and responding to questions.
Emotional Changes:
• Depression: This is a common symptom of Huntington's disease.
• Anxiety: This can include feelings of worry, nervousness, and restlessness.
• Irritability: This can include easy frustration and anger.
• Aggression: This can include verbal or physical aggression.
• Apathy: This can include a loss of interest in activities that were once enjoyable.
• The severity and progression of symptoms vary from person to person. Some people may experience only mild symptoms for many years, while others may experience a rapid decline.
Role of Nutrition in Huntington’s Disease:
Everyone can benefit from good nutrition and proper eating habits. For people with HD, good nutrition has been proven to be an important part of maintaining health and maximum functional ability. Research has shown that people with Huntington’s Disease often have a lower than average body weight for height, and may have higher than average calorie needs. This may be due to chorea, metabolic changes, or some other factor yet undiscovered. Therefore, people with HD should be encouraged to eat and every effort should be made to make eating enjoyable. Currently, there is no known cure for Huntington's disease (HD), and while nutrition alone cannot cure the disease, a healthy and well-balanced diet can play an important role in managing symptoms and improving overall health. Here are some nutritional strategies that may help manage Huntington's disease:
1. Adequate Caloric Intake:
• Weight loss is common in HD due to involuntary movements (chorea), difficulty swallowing, and increased metabolic rate. Ensuring a sufficient caloric intake is important to maintain body weight.
• High-calorie foods: Incorporating higher-calorie, nutrient-dense foods, such as healthy fats (e.g., avocado, olive oil, nuts), full-fat dairy, and protein-rich foods (e.g., lean meats, beans, eggs), may help prevent weight loss.
• Frequent small meals: Eating smaller, more frequent meals throughout the day can help ensure enough calories are consumed, especially if appetite is reduced or swallowing becomes difficult.
2. Brain-Healthy Diet:
• Omega-3 Fatty Acids: These are healthy fats found in foods like fatty fish (e.g., salmon, mackerel), flaxseeds, chia seeds, and walnuts. Omega-3s are known for their anti-inflammatory properties and may help support brain health.
• Mediterranean Diet: This diet focuses on whole grains, healthy fats (like olive oil), fruits, vegetables, legumes, and lean proteins (such as fish and poultry). Studies suggest that this diet may have neuroprotective effects, which could benefit people with HD.
3. Protein:
• Adequate Protein Intake: Protein is important for maintaining muscle mass, which can be affected by involuntary movements and weight loss. Good sources include lean meats, dairy products, legumes, and plant-based protein like tofu.
• Balanced Macronutrients: It’s important to include a healthy balance of carbohydrates, fats, and protein to ensure overall nutritional needs are met.
4. Support for Swallowing Difficulties:
As the disease progresses, dysphagia (difficulty swallowing) may develop, making it hard to eat. Modifying the texture of food (e.g., pureed or soft foods) and using thickeners for liquids can help reduce the risk of choking and ensure proper nutrition.
5. Vitamins and Minerals:
• Vitamin D: Maintaining adequate vitamin D levels is essential for bone health, especially since people with HD may have decreased mobility. Good sources include fatty fish, fortified foods, and sunlight exposure.
• B Vitamins: B vitamins, particularly B12, are essential for nerve health and energy production. Foods like lean meats, fish, dairy, eggs, and fortified cereals are good sources.
• Magnesium: This mineral can help support muscle function and reduce cramps. Foods like leafy greens, nuts, seeds, and whole grains provide magnesium.
6. Supplements:
• Coenzyme Q10 (CoQ10): This antioxidant supplement has been studied in HD and is believed to support mitochondrial function. However, the results of studies on its effectiveness for slowing disease progression have been mixed. Always consult with a healthcare provider before starting any supplements.
• High-calorie formulas: HD patients often require more calories due to involuntary movements (chorea) and metabolism changes. Look for formulas that are high-calorie and nutrient-dense.
• Specialized formulas for brain health: Some formulas are enriched with omega-3 fatty acids (from fish oil) and antioxidants to support brain health.
Ratio of Huntington’s Disease:
Huntington's disease is rare worldwide, affecting about 3 to 7 people per 100,000 in most populations.
In Pakistan, the disease appears to be more common in certain regions, especially due to higher rates of cousin marriages. While exact prevalence figures for Pakistan are not well-documented, some studies suggest the rate could be higher in areas of Punjab compared to other parts of the country.
Worldwide, Huntington's is more common in populations of European descent. It is less common in Asian, African, and Indigenous populations.
Conclusion:
While nutrition cannot cure Huntington’s disease, it plays a significant role in managing the condition and improving the quality of life. A diet that is rich in healthy fats, antioxidants, protein, and adequate calories is essential. As symptoms progress, adjustments to the diet and assistance with eating may be required.
References:
Rivista Di Psichiatra
Huntington’s disease society of America
Submitted by:
Zunaira Rafique
Faculty Of Eastern Medicine
Hamdard University,Karachi.
Acknowledgements:
I would like to thank Professor Dr. Noman Khan for guidance and support.