Weight Loss with Huntington's Disease in South Africa

Why Huntington's Disease Causes Severe Weight Loss

Weight loss in Huntington's disease begins before motor symptoms appear and accelerates as the disease progresses. Multiple mechanisms operate simultaneously:

Chorea: The Calorie-Burning Engine

Chorea — the characteristic involuntary writhing, jerking, and twisting movements of HD — is metabolically expensive. Research estimates that uncontrolled chorea can increase resting energy expenditure by 30–100%, depending on severity. A person whose normal caloric need would be 2,000 kcal/day may require 2,600–4,000 kcal/day during active choreic periods. This is equivalent to the caloric demands of a competitive endurance athlete — but without any cardiovascular training benefit, and with someone who may struggle to eat.

Hypothalamic Dysfunction: Altered Hunger Signals

The hypothalamus — which regulates hunger, satiety, and metabolic rate — is directly affected by the mutant huntingtin protein. HD patients show altered levels of appetite-regulating hormones including ghrelin, leptin, and orexin. This means hunger signals are blunted even when the body is in energy deficit. Patients may genuinely not feel hungry despite severe caloric need, making intuitive eating unreliable. Structured feeding schedules rather than hunger-guided eating become essential.

Dysphagia: When Swallowing Becomes Dangerous

HD affects the muscles and neural coordination required for safe swallowing. As the disease progresses, patients develop dysphagia — difficulty swallowing — that includes:

• Impulsive, rapid eating that outpaces swallowing coordination
• Pocketing food in cheeks without swallowing
• Coughing and choking during meals
• Silent aspiration — food or liquid entering the airway without triggering cough — which causes aspiration pneumonia, a leading cause of death in HD
• Fatigue during eating — meals take so long that patients give up before consuming enough calories

Psychiatric Symptoms Disrupting Eating

Depression, apathy, obsessive-compulsive behaviours, and irritability are core features of HD that profoundly affect eating patterns:

• Depression and apathy reduce motivation to prepare food, sit at mealtimes, and complete meals
• Impulsivity can cause dangerous rapid eating, choking risk, and poor food choices
• OCD-like behaviours may create food rituals that restrict intake to a narrow range of foods
• Irritability makes mealtimes stressful for both patient and caregiver, further reducing intake

Medication Side Effects

Tetrabenazine and deutetrabenazine (used to suppress chorea) can cause depression, sedation, and reduced appetite — potentially reducing caloric intake further while the need remains high. Antidepressants commonly used in HD (SSRIs, mirtazapine) have variable effects on appetite. Mirtazapine specifically tends to increase appetite and body weight, which can be therapeutically useful in underweight HD patients.

Caloric Targets: How Much Do HD Patients Actually Need?

Standard caloric recommendations do not apply to Huntington's disease. HD patients in active choreic stages often need significantly more energy than their apparent size and activity level suggests.

A registered dietitian should calculate personalised targets using indirect calorimetry where available, or validated HD-specific formulas. Weekly weight monitoring is the gold standard feedback tool — aim to maintain stable weight, or halt the decline.

High-Calorie, High-Protein Eating for HD Patients

The dietary goal in HD is caloric density — maximising nutrition per bite, because the patient's capacity to eat is limited by swallowing difficulty, fatigue, and reduced motivation. This is the opposite of typical weight loss advice.

Energy-Dense Foods for Every Meal

• Full-cream dairy: Full-fat milk, amasi (full-cream), maas, yoghurt, cheese. Add powdered full-cream milk to porridge, smoothies, and soups to boost calories without adding volume.
• Peanut butter and nut butters: 2 tablespoons of peanut butter provides 190 kcal and 8 g protein. Add to porridge, smoothies, toast. A South African favourite and an excellent HD caloric supplement.
• Avocado: Nutrient-dense, soft texture, 160 kcal per half. Easy to eat, gentle on a dysphagic swallow.
• Eggs: Scrambled, poached, or as omelette — soft, high protein (6 g per egg), easy to prepare, well-tolerated.
• Fortified porridge: Jungle Oats or Maltabella made with full-cream milk, a tablespoon of peanut butter, and a teaspoon of honey — one bowl can deliver 500–600 kcal in an easily swallowed form.
• Oily fish: Pilchards, sardines, tinned tuna with mayonnaise — affordable, high protein, omega-3 fatty acids that support neurological health. Canned pilchards are a cost-effective SA staple.
• Soft cooked legumes: Sugar beans, lentil soup, hummus — blend until smooth for dysphagia-safe high-protein base.

Caloric Fortification of Everyday Foods

Rather than adding entirely new meals, fortifying existing foods is more practical for HD caregivers:

• Add 2 tablespoons of olive oil or butter to cooked vegetables, pap, rice
• Add full-cream milk powder (30 g = 120 kcal) to porridge, soups, mashed potato
• Use full-fat mayonnaise on sandwiches and in tuna/chicken mixtures
• Add grated cheese to soups, mashed potato, scrambled eggs
• Use condensed milk in rooibos tea or hot drinks

Managing Dysphagia Safely in HD

Dysphagia in HD is progressive and dangerous. Aspiration pneumonia is the most common cause of death in late-stage HD. Managing swallowing safety is not optional — it requires input from a speech-language therapist (SLT) who can assess swallowing function and recommend appropriate food texture and liquid thickness levels.

IDDSI Framework (International Dysphagia Diet Standardisation Initiative)

South African hospitals and dietitians increasingly use the IDDSI framework — standardised levels from Level 0 (thin liquids) to Level 7 (regular food). An SLT will recommend the appropriate level based on swallowing assessment. Textures commonly needed in HD:

Safe Eating Environment

• Sit upright at 90 degrees for all meals and remain upright for 30 minutes afterwards
• Eliminate distractions — HD patients eating while distracted are at significantly higher aspiration risk
• Slow the pace — use smaller spoons, pause between bites, and gently remind the patient to swallow before the next bite
• Avoid mixed textures — soup with chunks, cereal with milk — liquids and solids together are the highest aspiration risk combination
• Never rush a meal — fatigue builds, but rushing dramatically increases choking risk
• Caregiver training in the Heimlich manoeuvre is strongly recommended for all HD household members

Nutritional Supplements in HD

When food intake alone cannot meet caloric needs, oral nutritional supplements (ONS) are appropriate and often necessary in mid-to-late HD:

• Ensure Plus / Fresubin Energy: High-calorie, complete nutrition drinks (300–400 kcal per 200 mL bottle). Available at most SA pharmacies. Prescribe under chronic medication if on medical aid.
• Homemade smoothies: Full-cream milk + banana + peanut butter + full-cream yoghurt + milk powder = ~600 kcal per 400 mL. Cost-effective, customisable, and generally better tolerated than commercial products.
• Creatine and CoQ10: Extensively studied in HD clinical trials. Current evidence does not support routine supplementation for neuroprotection — discuss with neurologist before use.
• Omega-3 (fish oil): Anti-inflammatory; may modestly support neurological health. 1–2 g EPA+DHA daily is safe. Pilchards and sardines are the most cost-effective South African source.

Percutaneous Endoscopic Gastrostomy (PEG) Tube

When oral intake becomes unsafe or insufficient despite all interventions, a PEG feeding tube (placed through the abdominal wall into the stomach) allows direct nutritional delivery. This is a significant decision that should be discussed early — ideally when the patient still has capacity to participate in the decision. A PEG does not shorten life expectancy in HD and may extend it by ensuring adequate nutrition and preventing aspiration pneumonia. Discuss with the HD neurologist and SLT team proactively rather than in a crisis.

Exercise in Huntington's Disease

Exercise in HD is beneficial but must be adapted to safety and the patient's current motor capacity. The goal is not weight loss — it is maintaining functional strength, balance, cardiovascular health, and mental well-being for as long as possible.

• Balance and gait training: Physiotherapy-guided balance work reduces fall risk. HD patients have high fall rates due to chorea plus voluntary movement. A physiotherapist familiar with HD should design this programme.
• Seated exercise: Chair-based resistance exercises using resistance bands or light weights maintain upper body strength and are safe even with moderate chorea.
• Swimming (with supervision): The water environment dampens choreic movements, making swimming more comfortable and controlled. Never swim alone in HD.
• Stationary cycling: Low fall risk, good cardiovascular benefit. Recumbent bikes are safer than upright bikes in advanced HD.
• Avoid: High-impact activities, contact sports, activities near open water, exercise on uneven terrain — fall risk is too high.

South African Context and Resources

Huntington's disease affects approximately 5–10 per 100,000 people worldwide, with no significant ethnic prevalence variation — meaning all South African population groups are affected. The genetic nature of HD means each first-degree child of an HD patient has a 50% chance of inheriting the mutation, with onset typically in the 30s–50s (though juvenile HD can occur in childhood).

• Genetic testing: Predictive genetic testing for at-risk individuals (who have a parent with HD) is available at SA academic hospitals with clinical genetics services — Charlotte Maxeke, Groote Schuur, Universitas, Inkosi Albert Luthuli. Testing must be done with full genetic counselling (this is a legal and ethical requirement for predictive HD testing).
• Neurological care: HD is managed by neurologists. Academic hospitals offer HD clinics at major centres. The neurologist coordinates care with speech therapy, dietetics, physiotherapy, occupational therapy, and psychiatry.
• South African HD support: The Huntington's Disease Association of South Africa (HDASA) provides patient and caregiver support — hdasa.org.za
• Dietetics: ADSA (Association for Dietetics in South Africa) — adsa.org.za — can help find a registered dietitian experienced in neurological conditions and dysphagia management.
• Medical aid coverage: HD qualifies as a PMB (Prescribed Minimum Benefit) condition. Oral nutritional supplements (ONS) and PEG tube nutrition may be covered — check with your medical aid's PMB coordinator.
• Genetic counselling: Free at public hospital genetics services for those who cannot afford private care. Essential before and after HD genetic testing.

Key Takeaways

• Huntington's disease causes weight loss — the goal is weight maintenance or arrest of decline, not further weight loss
• Chorea massively increases caloric needs — HD patients may require 2,600–4,000 kcal/day depending on disease stage
• Hypothalamic dysfunction blunts hunger signals — use scheduled meals, not hunger-guided eating
• Dysphagia develops progressively — get a speech-language therapist involved early, before choking becomes a crisis
• Use IDDSI texture levels as assessed by SLT — puréed, minced-and-moist, or soft-and-bite-sized depending on individual assessment
• Fortify everyday foods with peanut butter, full-cream dairy, avocado, olive oil, and milk powder to increase caloric density without adding volume
• Oral nutritional supplements are appropriate and often necessary in mid-to-late HD
• Discuss PEG tube feeding early, while the patient can participate in the decision
• Exercise with physiotherapy guidance — focus on balance, seated resistance, and low fall-risk activities
• HDASA (hdasa.org.za) provides South African patient and caregiver support; genetic counselling is essential for at-risk family members

This article is for informational purposes only and does not constitute medical advice. Huntington's disease requires specialist neurological, dietary, and speech therapy management. Always consult your doctor and registered dietitian before making nutritional changes in the context of HD.