Chorea-Acanthocytosis

Chorea-acanthocytosis (often shortened to ChAc) is a very rare inherited brain and blood disease. It mainly affects movement, behaviour, and thinking. In this disorder, some red blood cells become “spiky” or star-shaped; these are called acanthocytes. People also develop involuntary jerky movements (chorea), repeated abnormal face and mouth movements, seizures, mood and behaviour changes, and weakness in nerves and muscles. ChAc is caused by harmful changes (mutations) in a gene called VPS13A, and it is passed on in an autosomal recessive pattern, which means a person must get a faulty copy of the gene from both parents.

Chorea-acanthocytosis (also called VPS13A disease) is a very rare, lifelong brain and nerve disorder. It is usually caused by changes in the VPS13A gene, which makes a protein called chorein. When this protein does not work properly, nerve cells in movement and behavior areas of the brain slowly become damaged. This leads to jerky movements, mouth and tongue problems, seizures, mood changes, and red blood cells with spiky shapes called acanthocytes. There is no cure yet, so treatment focuses on symptoms and quality of life.

Because this is a very complex disease, treatment must always be guided by a neurologist and other specialists. Many therapies below are based on experience from similar movement and seizure disorders, not on big trials in this very rare condition. New research is still going on, so recommendations can change over time.

Other names

Chorea-acanthocytosis has several other names used in books and research papers. It is often called choreoacanthocytosis, and sometimes “acanthocytosis with neurologic disorder” or Levine–Critchley syndrome. Many experts now also use the name VPS13A disease, because the illness is caused by mutations in the VPS13A gene. ChAc is part of a small family of conditions called neuroacanthocytosis syndromes, which all have both brain problems and abnormal spiky red blood cells.

Types of chorea-acanthocytosis

Doctors usually treat ChAc as one single disease, but it can look different from person to person. So, many authors describe clinical patterns or “types” based on the main symptoms, even though these are not strict official subtypes. One pattern is classic Huntington-like ChAc, where patients mainly have chorea, behaviour changes, and thinking problems that resemble Huntington disease.

Another common pattern is orofacial movement–dominant ChAc, where the earliest and strongest problems are mouth and face movements. People may have grimacing, lip smacking, tongue thrusting, and biting of the tongue and lips, which can cause wounds in the mouth and difficulty speaking and swallowing.

A third pattern is seizure-dominant ChAc, where epilepsy and fits appear early in life and may be the first serious sign before chorea and other symptoms become obvious.

A fourth pattern is psychiatric-dominant ChAc, in which mood changes, depression, irritability, obsessive behaviours, or psychosis appear early and may be mistaken for a primary psychiatric illness for many years.

Another pattern is peripheral neuropathy/myopathy-dominant ChAc, where the main problems come from damage to peripheral nerves and muscles, leading to weakness, reduced reflexes, and muscle wasting, sometimes with only mild involuntary movements at the beginning.

Finally, some patients show “atypical” or mixed patterns, such as early parkinsonism (stiffness and slowness), or cases with clear symptoms but no visible acanthocytes at first, which can make the diagnosis more difficult.

Causes and disease mechanisms

Important: the root cause of ChAc is always harmful mutations in the VPS13A gene. The 20 points below describe different mechanisms and contributing factors that help explain how this genetic problem leads to the disease.

1. Autosomal recessive inheritance
   ChAc is inherited in an autosomal recessive way. This means a person must receive one faulty VPS13A gene copy from each parent. Parents are usually healthy carriers with one normal and one changed copy. When both parents are carriers, each child has a 25% chance of having the disease.

2. VPS13A gene mutations
   The main cause is a variety of mutations in the VPS13A gene (on chromosome 9q21). These changes can include small deletions, insertions, nonsense mutations, or larger rearrangements that prevent the gene from making a normal protein.

3. Loss of chorein protein
   VPS13A encodes a large protein called chorein. In ChAc, mutations often lead to little or no chorein being produced. The lack of this protein changes how cells handle membranes and internal transport, especially in brain cells and red blood cells.

4. Disturbed membrane trafficking in neurons
   Chorein helps control how cell membranes move and how small packages (vesicles) travel inside nerve cells. When chorein is missing, membrane traffic becomes abnormal, which stresses and slowly damages neurons in movement-control areas of the brain.

5. Basal ganglia neuron loss
   The basal ganglia, especially the caudate nucleus and putamen, are very important for smooth movement. In ChAc, these areas gradually lose nerve cells and shrink, which leads to chorea, dystonia, and other abnormal movements.

6. Formation of acanthocytes
   Because chorein is also present in red blood cells, its loss changes their membrane structure. This leads to spiky or star-shaped cells called acanthocytes in the blood smear. These abnormal shapes are a key clue to the diagnosis.

7. Disrupted cell survival pathways
   Research suggests that chorein helps keep certain cell survival and death pathways in balance. When it is missing, processes such as autophagy and apoptosis may become overactive, causing progressive loss of neurons.

8. Abnormal lipid and membrane contacts
   The VPS13 family of proteins seems to work at “contact sites” between different cell membranes, where lipids are exchanged. Faulty VPS13A may disturb lipid flow and membrane composition, which is especially harmful in long, complex neurons.

9. Peripheral nerve damage
   ChAc often includes axonal peripheral neuropathy. This is probably due to the same VPS13A-related membrane and survival problems affecting peripheral nerves, leading to weakness, numbness, or abnormal reflexes in the limbs.

10. Skeletal muscle involvement
    Elevated creatine kinase and muscle changes in some patients suggest that skeletal muscles are also directly affected by the loss of chorein, contributing to fatigue, cramps, and muscle wasting.

11. Possible cardiac muscle effects
    VPS13A protein is present in heart muscle cells, and some reports describe cardiomyopathy in neuroacanthocytosis syndromes, so altered chorein may sometimes damage the heart as well.

12. Abnormal brain network connectivity
    Because many parts of the brain use chorein, especially motor and frontal lobe networks, its absence can disturb the communication between areas controlling movement, emotion, and planning, leading to complex symptoms.

13. Genetic founder effects in some regions
    In certain populations, specific VPS13A mutations may be more common, probably due to “founder” ancestors. This can make ChAc slightly more frequent in some areas or families.

14. Consanguinity (marriage between relatives)
    In families where parents are related (such as cousins), the chance that both carry the same rare VPS13A mutation is higher. This increases the risk that their children inherit ChAc.

15. Modifier genes and variability
    Not all people with the same VPS13A mutation have identical symptoms. Other genes may change how severe or early the disease appears, although these modifiers are not yet fully understood.

16. Environmental stress on neurons
    While the main cause is genetic, general brain stress such as repeated head injury, poor nutrition, or chronic illness may make already vulnerable neurons degenerate faster in some individuals. This is suggested by patterns seen in other neurodegenerative diseases.

17. Age-related neuronal vulnerability
    Symptoms often begin in young adulthood (around 20–40 years). This may be a time when certain brain circuits naturally change with age, making the effect of VPS13A mutations more visible.

18. Hormonal and metabolic influences
    Some reports describe changes in weight, metabolism, or endocrine function. While not primary causes, these may interact with the disease to change symptom severity.

19. Immune and inflammatory pathways
    There is ongoing research into whether chronic low-grade inflammation or immune responses might worsen neuronal damage in ChAc, as happens in some other movement disorders, but clear proof is still limited.

20. Delayed recognition and lack of treatment
    Because ChAc is very rare and often misdiagnosed, people may live many years without proper supportive therapy. This delay does not cause the gene mutation, but it allows symptoms to progress unchecked, leading to greater disability.

Symptoms

1. Chorea (involuntary jerky movements)
   Chorea means fast, irregular, dance-like movements that a person cannot control. In ChAc, chorea often affects the face, trunk, and limbs, making actions like walking, reaching, or sitting still difficult.

2. Orofacial dyskinesia and grimacing
   Many patients show repeated abnormal movements of the mouth and face, such as grimacing, lip smacking, or jaw opening and closing. These can be very visible and socially embarrassing.

3. Tongue and lip biting
   A classic sign is repeated biting of the tongue and lips, sometimes without the person realizing it. This can cause ulcers, bleeding, and scarring in the mouth and may make doctors suspect ChAc.

4. Dystonia (sustained muscle contractions)
   Dystonia means muscles stay contracted in an abnormal posture. In ChAc, this often affects the jaw, neck, or limbs, causing twisted positions, difficulty opening the mouth, or painful cramps.

5. Motor and phonic tics
   Some people have sudden, repeated movements or sounds that look like tics. These can include eye blinking, shoulder shrugging, or throat noises, overlapping with tic disorders such as Tourette syndrome.

6. Difficulty speaking (dysarthria)
   Because mouth, tongue, and facial muscles are affected, speech may become slurred, slow, or difficult to understand. Over time, some patients may struggle to communicate clearly by voice.

7. Difficulty swallowing (dysphagia)
   Abnormal mouth movements, tongue weakness, and dystonia make swallowing hard. People may cough when eating, choke on liquids, or take a long time to finish meals, increasing the risk of aspiration pneumonia.

8. Seizures (epileptic fits)
   Seizures are common and can appear before or after movement problems. They may be focal (starting in one body part) or generalized, and often require long-term anti-seizure medicine.

9. Behaviour changes and irritability
   Many patients develop irritability, impulsive behaviour, or poor control of emotions. Family may notice sudden angry outbursts, social withdrawal, or risky decisions that differ from the person’s usual character.

10. Depression and anxiety
    Long-term brain changes, along with the stress of living with a rare illness, can lead to low mood, loss of interest, sadness, or anxiety. These symptoms need active treatment just like the physical problems.

11. Psychosis or obsessive behaviours
    Some people develop hallucinations, delusions, or very strong, repetitive thoughts and rituals. These can be mistaken for primary psychiatric disorders if the movement signs are mild or not yet noticed.

12. Cognitive decline (problems with thinking)
    Over time, many patients have trouble with planning, attention, memory, and judgment. This “frontal lobe–type” cognitive change can affect work, school, or daily tasks like managing money and medications.

13. Peripheral neuropathy (nerve damage)
    Weakness, numbness, and reduced reflexes in the feet and hands are common, caused by damage to long peripheral nerves. People may trip easily, have burning or tingling sensations, or find fine hand movements harder.

14. Muscle wasting and elevated creatine kinase
    Some patients show thinning of muscles and raised muscle enzyme levels in blood tests, which point to a combined muscle and nerve problem (neuromyopathy). This adds to fatigue and movement difficulties.

15. Weight loss and general decline
    Difficulty eating, swallowing, and moving, along with high energy use from constant involuntary movements, can cause weight loss and frailty over the years, especially if supportive care is delayed.

Diagnostic tests

Physical examination tests

1. General neurological examination
   The doctor checks how the patient walks, speaks, moves, and reacts. They look for chorea, dystonia, tics, muscle strength, tone, and reflexes. This broad exam helps the doctor see the overall pattern and suspect a neurodegenerative movement disorder such as ChAc.

2. Observation of orofacial movements
   During the exam, the doctor carefully watches the face and mouth at rest and during talking or chewing. Frequent grimacing, tongue protrusion, lip smacking, and self-biting are strong clues pointing toward chorea-acanthocytosis rather than other movement disorders.

3. Gait and balance assessment
   The patient is asked to walk normally, turn quickly, walk on heels or toes, and stand with feet together. In ChAc, gait may look unsteady or dance-like because of chorea and neuropathy, and some patients may have difficulty keeping balance, especially with eyes closed.

4. Examination of mouth and tongue injuries
   The doctor inspects the inside of the mouth for scars, ulcers, or bite marks on the tongue and lips. Repeated injuries in these areas are typical for ChAc and less common in many other causes of chorea.

Manual bedside tests

5. Tongue protrusion test
   The patient is asked to stick out the tongue and keep it out. In ChAc, the tongue may suddenly retract, twist, or jerk back into the mouth, sometimes leading to biting. This simple test helps show abnormal orolingual control.

6. Bedside strength and reflex testing
   Using only their hands and a reflex hammer, the doctor checks muscle power in arms and legs and taps tendons at the knee, ankle, and elbow. Weakness, reduced ankle reflexes, or mixed findings can suggest the peripheral neuropathy seen in many ChAc patients.

7. Coordination tests (finger–nose, heel–shin)
   The patient is asked to touch their nose and the doctor’s finger or slide the heel along the opposite shin. Overshooting, irregular movements, or extra jerks can show cerebellar and basal ganglia involvement typical of neuroacanthocytosis.

8. Frontal lobe bedside tests
   Simple paper-and-pencil tasks, such as drawing loops, alternating hand movements, or verbal fluency tests, can show problems with planning and mental flexibility. These quick bedside checks support the idea of “frontal lobe–type” cognitive changes in ChAc.

9. Bedside sensory testing
   The doctor lightly touches the skin with cotton, pin, or tuning fork to check touch, pain, vibration, and joint position sense. Reduced feeling, especially in the feet, supports the diagnosis of a mixed central and peripheral nerve disorder.

Laboratory and pathological tests

10. Peripheral blood smear for acanthocytes
    A key test is to look at a thin smear of blood under the microscope. In ChAc, a proportion of red cells show irregular, thorn-like projections (acanthocytes). Sometimes this change is subtle or appears only later, so repeated smears and expert review are needed.

11. Complete blood count (CBC)
    A standard CBC looks at the number and type of blood cells. In ChAc, basic counts may be normal, but the test helps rule out other conditions and can support the finding of acanthocytosis when combined with the smear.

12. Serum creatine kinase (CK) level
    CK is an enzyme released from damaged muscle. Many people with ChAc have raised CK, sometimes even before obvious muscle weakness, which indicates ongoing muscle involvement and helps separate ChAc from some other chorea causes.

13. Liver function and lipid profile tests
    These blood tests measure liver enzymes and cholesterol or triglyceride levels. In ChAc, acanthocytosis occurs without the severe lipid problems seen in some other acanthocyte disorders, so a near-normal lipid profile supports the diagnosis.

14. Western blot for chorein (VPS13A protein)
    In specialized laboratories, a Western blot can measure chorein in red blood cell membranes. In ChAc, chorein is absent or very low, which strongly supports the diagnosis, especially before genetic results are available.

15. Genetic testing for VPS13A mutations
    DNA analysis to look for mutations in the VPS13A gene is now the gold standard for confirming ChAc. Finding two harmful variants in VPS13A in a person with typical features makes the diagnosis almost certain and allows family testing and genetic counselling.

Electrodiagnostic tests

16. Electroencephalogram (EEG)
    EEG records electrical activity in the brain using small scalp electrodes. In ChAc, EEG can show epileptic discharges in people with seizures and may also reveal more diffuse slowing in advanced disease. It helps choose and monitor anti-seizure treatment.

17. Nerve conduction studies (NCS)
    NCS measure how fast and how well electrical signals travel along peripheral nerves. Many patients with ChAc show reduced amplitudes or slowed conduction, confirming an axonal neuropathy that matches their weakness and numbness.

18. Electromyography (EMG)
    EMG uses a fine needle electrode in muscles to study electrical activity at rest and during contraction. Findings may show chronic denervation and myopathic changes, supporting combined nerve and muscle involvement, which is typical for ChAc neuromyopathy.

Imaging tests

19. Brain MRI (magnetic resonance imaging)
    MRI is very important in evaluating suspected ChAc. Typical findings include shrinkage (atrophy) of the caudate nuclei and putamen, with changes in signal in these basal ganglia regions. These features support a diagnosis of neurodegenerative chorea and fit well with ChAc in the right clinical context.

20. Brain CT scan
    CT is less sensitive than MRI but may still show enlarged ventricles and loss of brain tissue in basal ganglia areas in advanced cases. It is useful when MRI is not available or cannot be done, although a normal CT does not rule out early ChAc.

21. Functional imaging (PET or SPECT)
    In research or specialized centres, PET or SPECT imaging can measure brain metabolism or blood flow. These scans often show reduced function in basal ganglia and frontal regions in ChAc, matching the person’s movement and behavioural symptoms and helping to distinguish ChAc from some other movement disorders.

Non-Pharmacological Treatments

1. Regular care with a movement-disorder neurologist
A neurologist who is experienced in movement disorders can review symptoms, medicines, and side effects at regular visits. The purpose is to build a long-term plan, adjust drugs slowly, and combine therapies safely. The doctor looks at walking, swallowing, mood, seizures, and blood tests, and then coordinates other team members such as therapists and dietitians.

2. Physiotherapy (physical therapy)
Physiotherapy uses stretching, balance exercises, and strength training to keep muscles flexible and joints working as long as possible. The purpose is to reduce falls, stiffness, and pain. The main mechanism is repeated practice of safe movement patterns and muscle strengthening, which helps the brain and body work together better despite abnormal movements.

3. Occupational therapy
Occupational therapists help people manage daily activities such as dressing, eating, writing, and using a phone or computer. The goal is to keep independence and safety. They can suggest special tools like adapted cutlery, grab bars, or modified pens. These tools and training reduce the impact of chorea and weakness on everyday tasks.

4. Speech and swallowing therapy
Speech-language therapists teach exercises for clearer speech and safer swallowing. They may suggest changing food texture, eating posture, and swallowing techniques. This reduces choking and aspiration (food going into the lungs) and can help maintain nutrition and communication abilities.

5. Nutritional counseling
A dietitian plans high-calorie, high-protein meals that are easy to chew and swallow. The purpose is to prevent weight loss and vitamin deficiencies, which are common because of swallowing problems and constant movements. The mechanism is simple: energy-dense foods and supplements give more calories in smaller volumes, matching increased energy use.

6. Psychological counseling and cognitive-behavioral therapy (CBT)
People with chorea-acanthocytosis often have depression, anxiety, obsessions, or personality changes. Counseling and CBT give tools to manage negative thoughts and difficult behaviors. The mechanism is learning new ways to react to stress and illness, which can reduce distress and improve coping for both patient and family.

7. Behavioral therapy for unwanted movements and habits
Some patients develop repeated actions that may hurt the mouth or tongue, or other repetitive habits. Behavioral therapy tries to replace risky behaviors with safer ones, using reward systems and gradual habit reversal. This can lower injury risk and improve social comfort.

8. Social work and care coordination
Social workers help families get disability benefits, home care services, equipment, and transportation. The purpose is to reduce financial and social stress. They also coordinate between hospital, rehabilitation center, and community resources so care continues smoothly.

9. Mobility aids (canes, walkers, wheelchairs)
Canes, walkers, and later wheelchairs can make walking safer and less tiring. The mechanism is simple mechanical support and better weight distribution, which compensates for unsteady gait and balance problems. A physiotherapist usually helps choose and adjust these devices.

10. Home safety and fall-prevention changes
Simple changes such as removing loose rugs, installing grab bars in bathrooms, and using non-slip shoes can greatly reduce falls. Good lighting and clear pathways are also important. These environmental changes lower injury risk from sudden jerks and unsteady steps.

11. Orthotics and posture support
Braces, ankle–foot orthoses, neck collars, and custom seating systems can support weak or dystonic body parts. They help keep joints in safer positions, reduce contractures (permanent stiffness), and improve comfort in chairs and beds.

12. Communication aids and text-to-speech devices
When speech becomes difficult, tablets, smartphones, or dedicated communication devices allow the person to type or choose symbols that the device speaks aloud. This keeps communication possible even when voice is hard to understand, reducing isolation and frustration.

13. Respiratory therapy and breathing exercises
Respiratory therapists teach exercises and techniques to clear mucus and keep lungs healthy, especially if swallowing is unsafe. The goal is to prevent chest infections and maintain oxygen levels. Techniques may include deep-breathing drills and assisted coughing.

14. Sleep hygiene and behavioral sleep therapy
Regular sleep schedules, relaxing night-time routines, and avoiding caffeine late in the day can improve sleep. Behavioral sleep therapy adds techniques to reduce racing thoughts and adjust light exposure. Better sleep may reduce fatigue, irritability, and sometimes the severity of daytime movements.

15. Regular dental care and mouth protection
Abnormal jaw and tongue movements can damage teeth and oral tissues. Frequent dental checks, mouth guards, and careful cleaning help protect teeth and gums. Dentists may work with neurologists to time dental work when movements are best controlled.

16. Caregiver education and respite support
Family members need training on safe transfers, feeding, communication, and handling emergencies like choking or seizures. Respite care (temporary outside help) gives caregivers time to rest. This support reduces burnout and keeps home care sustainable.

17. Patient and family support groups
Meeting other families with neuroacanthocytosis or similar disorders can provide emotional support and practical tips. Sharing experiences helps people feel less alone and may connect them to research or clinical trials.

18. Genetic counseling
Genetic counseling explains how VPS13A disease is inherited and what carrier status means for family members. The purpose is to support informed decisions about future pregnancies, testing, and family planning. The mechanism is clear information and risk calculation, not changing the gene itself.

19. Vocational and educational support
Young people may need adaptations at school or work, such as extra time for tasks, ergonomic desks, or flexible schedules. Vocational therapists assess strengths and limitations, then suggest roles that match abilities while respecting fatigue and movement issues.

20. Palliative care and advanced care planning
Palliative care teams focus on comfort, symptom control, and emotional support at any stage of the disease, not only near the end. They help families discuss future wishes about feeding tubes, breathing support, and hospital care. This planning reduces crisis stress later.

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Drug Treatments

There is no drug specifically approved only for chorea-acanthocytosis. Most medicines are approved for other conditions (like Huntington’s disease chorea, epilepsy, or depression) and are sometimes used “off-label” for similar symptoms in VPS13A disease. Doses below are typical adult starting doses, but real dosing must always be decided by a doctor.

1. Tetrabenazine (VMAT2 inhibitor)
Tetrabenazine blocks VMAT2, lowering dopamine release in movement brain areas. It is FDA-approved for Huntington’s disease chorea and sometimes used off-label to reduce violent jerky movements in ChAc. A common start is 12.5 mg once or twice daily, slowly increased. Main side effects include sleepiness, depression risk, and parkinsonism-like stiffness, so mood must be watched closely.

2. Deutetrabenazine (AUSTEDO, VMAT2 inhibitor)
Deutetrabenazine is a newer VMAT2 inhibitor, also approved for Huntington’s disease chorea. It has a longer half-life, which may allow more stable control of movements. A usual starting dose is 6 mg once daily, slowly titrated. Side effects include sleepiness, fatigue, depression risk, and possible heart rhythm changes, so ECG and mood checks are important.

3. Atypical antipsychotics (e.g., Risperidone, Olanzapine)
These drugs block dopamine and serotonin receptors and can calm chorea and severe behavioral symptoms such as aggression or psychosis. Doses are low to moderate and adjusted slowly (for example, risperidone 0.5–1 mg at night and titrated). They may cause weight gain, sleepiness, and stiffness; careful balance between movement control and side effects is needed.

4. Haloperidol (typical antipsychotic)
Haloperidol more strongly blocks dopamine receptors. In some cases, it reduces chorea and agitation when other drugs fail. Small doses (0.5–1 mg at night, adjusted as needed) are usually tried. Because it can cause marked stiffness, tremor, and long-term movement side effects, it is used with caution and usually not as first choice.

5. Levetiracetam (KEPPRA, anti-seizure drug)
Levetiracetam is approved for several types of seizures and is often preferred in complex neurological disorders because of fewer drug interactions. A typical adult starting dose is 500 mg twice daily, increased as needed. It helps lower seizure frequency but can cause mood changes, irritability, or sleep problems in some patients.

6. Valproic acid / Divalproex (DEPAKENE, DEPAKOTE)
Valproate is a broad-spectrum anti-seizure and mood-stabilizing drug. Doses often start around 10–15 mg/kg/day, divided into two or three doses, and are adjusted using blood levels. It can help control seizures and mood swings. However, it may cause weight gain, tremor, liver problems, and is strongly unsafe in pregnancy due to birth-defect risk.

7. Lamotrigine (anti-seizure and mood stabilizer)
Lamotrigine is used for focal and generalized seizures and bipolar depression. It is started very slowly (for example 25 mg once daily) to reduce the risk of serious skin rash. Over weeks, the dose is increased. It may help both seizures and mood, with generally milder weight and sedation effects than some other anti-seizure drugs.

8. Carbamazepine (anti-seizure drug)
Carbamazepine treats focal seizures and some types of nerve pain. It can help if seizures in ChAc have a focal onset. Dosing often starts at 100–200 mg once or twice daily and is slowly raised. Side effects include dizziness, low sodium, blood count changes, and many drug interactions, so monitoring is needed.

9. Clonazepam (benzodiazepine)
Clonazepam enhances the calming GABA system in the brain. It can reduce myoclonus, dystonia, seizures, and severe anxiety. Small doses at night (for example 0.25–0.5 mg) are common starting points. It may cause sleepiness, poor balance, and dependence if used long term, so doctors try to use the lowest helpful dose.

10. Baclofen (muscle relaxant)
Baclofen is a GABA-B agonist that reduces muscle tone. It is used for spasticity and sometimes dystonia in movement disorders. Oral doses usually start at 5 mg three times daily and are increased slowly. Side effects include weakness, sleepiness, and dizziness. Sudden stop can cause withdrawal, so tapering is necessary.

11. Botulinum toxin injections
Botulinum toxin is injected into overactive muscles, such as jaw or neck muscles, to block nerve signals and reduce focal dystonia and abnormal postures. Injections are repeated every 3–4 months. Side effects depend on the injection site and may include temporary weakness or swallowing difficulty if nearby muscles are affected.

12. Sertraline (ZOLOFT, SSRI antidepressant)
Sertraline increases serotonin in the brain and is approved for depression, anxiety disorders, and OCD. It can help mood symptoms, irritability, and intrusive thoughts in ChAc. Typical starting doses are 25–50 mg once daily. Common side effects include nausea, headache, and sleep changes; rare but serious effects include serotonin syndrome and suicidal thoughts, especially in young people.

13. Other SSRIs (e.g., Fluoxetine, Escitalopram)
Other SSRIs act similarly to sertraline and may be chosen based on individual response and side-effect profile. Doses are usually started low and slowly increased. They mainly improve depression and anxiety, which can indirectly help coping with the physical disease. Monitoring for mood changes and stomach upset is important.

14. Atypical antipsychotic Quetiapine
Quetiapine can help with agitation, psychosis, and severe insomnia. It is often started at very low doses at night (e.g., 25 mg) and slowly increased. It tends to cause less movement-related side effects than older antipsychotics but can lead to weight gain, drowsiness, and metabolic changes, so blood pressure and blood tests are monitored.

15. Mood stabilizer Lithium (selected cases)
Lithium is used for bipolar mania and mood swings. In rare cases with strong mood instability in ChAc, it may be considered. Dosing is guided by blood levels and kidney and thyroid tests. Side effects can include tremor, thirst, and kidney or thyroid problems, so it must be carefully supervised and is not used in everyone.

16. Propranolol (beta-blocker)
Propranolol blocks beta-adrenergic receptors and can reduce tremor and physical symptoms of anxiety, such as fast heartbeat. Low doses (10–20 mg two or three times daily) are common starting points. It may cause low blood pressure, slow heart rate, and tiredness, so it is avoided in asthma and some heart conditions.

17. Amantadine
Amantadine has mixed actions on dopamine and glutamate systems and sometimes helps reduce dyskinesias in other movement disorders. Small doses (100 mg once or twice daily) may be tried. Side effects include ankle swelling, vivid dreams, and confusion, especially in older people or those with kidney problems.

18. Melatonin (for sleep)
Melatonin is a hormone that helps regulate sleep–wake cycles. Low evening doses (e.g., 1–3 mg) can improve sleep onset and quality, especially when medications or movements disturb sleep. It is usually well tolerated but may cause vivid dreams or morning sleepiness in some people.

19. Proton pump inhibitors (e.g., Omeprazole)
Swallowing problems and medications may increase reflux and stomach irritation. Proton pump inhibitors reduce stomach acid and protect the esophagus. Doses like 20 mg once daily are common. Long-term use may slightly increase risks such as low magnesium, so doctors review the need regularly.

20. Laxatives and bowel-regulating drugs
Reduced mobility and some medicines can cause constipation. Osmotic laxatives (like polyethylene glycol) or stool softeners are used to keep bowel movements regular. They work by drawing water into the stool or changing its texture. Adequate fluids and fiber are still important.

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Dietary Molecular Supplements

Evidence for supplements in chorea-acanthocytosis is limited. Most data come from other neurodegenerative or muscle diseases. Always discuss supplements with a doctor to avoid interactions.

1. Omega-3 fatty acids (fish oil)
Omega-3 fats (EPA/DHA) support cell membranes and may have anti-inflammatory and heart-protective effects. Typical doses are around 1–2 g of combined EPA/DHA per day with food. They may modestly help mood and brain health. Side effects include fishy after-taste and, at high doses, a slightly increased bleeding tendency.

2. Coenzyme Q10 (CoQ10)
CoQ10 is involved in mitochondrial energy production. Doses for neurological conditions often range from 100–300 mg per day in divided doses. The idea is to support energy in stressed neurons and reduce oxidative damage. Most people tolerate it well; occasional side effects are stomach upset or headache.

3. Vitamin D
Vitamin D is important for bone health, muscles, and immune function. Many people with chronic illness are deficient. Supplement doses might be 800–2000 IU daily, or higher if prescribed based on blood levels. Proper levels may reduce fracture risk from falls. Too much vitamin D can cause high calcium, so blood tests are needed.

4. Vitamin B12 and B-complex
B-vitamins support nerve function and blood cell production. If B12 or folate is low, replacing them can improve neuropathy and fatigue. Doses vary from daily tablets to occasional injections, depending on deficiency. Extra B-vitamins without deficiency rarely give big benefits, but they are usually safe under medical guidance.

5. Vitamin E (antioxidant)
Vitamin E helps protect cell membranes from oxidative damage. In some neurodegenerative conditions, it may slightly slow functional decline. Typical doses are 200–400 IU/day, but higher doses can increase bleeding risk, especially with blood thinners. Because evidence is modest, doctors weigh risks and benefits individually.

6. L-carnitine
L-carnitine helps transport fatty acids into mitochondria for energy. It may support muscle energy and reduce fatigue in some disorders. Common doses are 500–1000 mg twice daily. Side effects can include stomach upset or a “fishy” body odor. It should be used cautiously in people with seizures, as high doses might rarely lower seizure threshold.

7. Magnesium
Magnesium is important for nerve and muscle function. It can help with cramps, constipation, and sleep in some people. Doses of 200–400 mg in the evening are common. Too much magnesium may cause diarrhea or, in kidney disease, serious imbalance, so doses must be tailored.

8. Probiotics
Probiotics are “good bacteria” that support gut health. They may help with constipation, diarrhea from medicines, or general gut comfort. Capsules or yogurts with live cultures are typical forms. The mechanism is balancing gut flora and strengthening gut barrier function. Most people tolerate them well, but very sick or immunocompromised patients need medical advice first.

9. Curcumin (turmeric extract)
Curcumin has antioxidant and anti-inflammatory actions in lab studies. Doses vary widely (for example 500–1000 mg/day of standardized extract). It may support joint and brain health, though strong clinical data in ChAc are lacking. It can interact with blood thinners and cause stomach upset, so medical supervision is important.

10. Resveratrol
Resveratrol, found in grapes and berries, is studied for possible neuroprotective and antioxidant effects. Supplements often provide 100–250 mg/day. Evidence in humans is limited, but it may modestly influence inflammation and cell signaling pathways. Side effects are usually mild, like stomach upset, but interactions with other drugs are possible.

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Immunity-Related and Regenerative / Stem-Cell–Linked Drugs

There are no approved “regenerative” or stem-cell drugs specifically for chorea-acanthocytosis. Some medicines used in other neurological diseases are being studied for nerve protection or immune modulation. Any such treatment should only be taken under specialist or research-trial supervision.

1. N-acetylcysteine (NAC)
NAC boosts the antioxidant glutathione inside cells and is used for acetaminophen overdose and some psychiatric conditions. In theory, it may reduce oxidative stress in damaged neurons. Doses in studies vary (for example 600–1200 mg/day). Possible side effects include nausea and rare allergic reactions. Evidence in ChAc is experimental only.

2. Edaravone
Edaravone is a free-radical scavenger approved in some places for amyotrophic lateral sclerosis (ALS). It is given as intermittent intravenous infusions. The idea is to reduce oxidative damage to motor neurons. Its use in ChAc would be off-label and experimental, with side effects such as headache, bruising at infusion site, and allergic reactions.

3. Riluzole
Riluzole reduces glutamate-related excitotoxicity and is approved for ALS. Doses are usually 50 mg twice daily. Some doctors consider it in other neurodegenerative conditions, but evidence is very limited. It can cause nausea, tiredness, and liver enzyme elevations, so blood tests are needed. In ChAc, it should be considered only in research contexts.

4. Intravenous immunoglobulin (IVIG)
IVIG consists of pooled antibodies from donors and strongly modulates the immune system. It is approved for autoimmune neuropathies and other immune disorders. In very rare cases where an autoimmune component is suspected, IVIG may be tried. Infusions are given over several hours and can cause headache, infusion reactions, or kidney strain.

5. Corticosteroids (e.g., Prednisone – in selected situations)
Steroids suppress immune activity and are used for many inflammatory diseases. They are not routine treatment for pure genetic ChAc, but may be used if overlapping autoimmune disease is present. Doses and schedules vary widely. Long-term use can cause weight gain, diabetes, osteoporosis, infection risk, and mood changes.

6. Experimental stem-cell–based approaches
Research teams are exploring stem-cell or gene-based strategies in various neurodegenerative disorders, including the broader neuroacanthocytosis spectrum. At present, these approaches are experimental only, usually in lab or early clinical trials, and not standard care. Any participation must be through regulated clinical trials with full informed consent.

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Surgeries and Procedures

1. Deep brain stimulation (DBS) of the globus pallidus internus
DBS places electrodes in deep brain regions that control movement. A battery under the skin sends controlled electrical pulses. In selected patients with severe chorea or dystonia, DBS can significantly reduce movements and improve function. Risks include infection, bleeding, and hardware problems, so careful evaluation is essential.

2. Gastrostomy tube (feeding tube) placement
When swallowing is unsafe or too slow, a tube can be placed through the abdominal wall into the stomach. This allows safe delivery of nutrition, fluids, and medicines. It helps prevent weight loss and aspiration pneumonia. The procedure has risks such as infection and tube blockage but often improves quality of life.

3. Orthopedic surgery for contractures and deformities
Long-term abnormal postures can lead to fixed joint contractures. Orthopedic procedures like tendon release or joint surgery may restore a more functional limb position. The goal is easier sitting, standing, or hygiene care, not curing the underlying brain disorder.

4. Dental and maxillofacial procedures
Serious tooth damage or jaw problems from abnormal movements may need extractions, restorations, or jaw surgery. These procedures reduce pain, improve chewing, and lower infection risk. Close cooperation between dentist, anesthesiologist, and neurologist is needed because movements and seizures can complicate anesthesia.

5. Tracheostomy (in advanced respiratory compromise)
If severe aspiration or respiratory muscle weakness develops, a tracheostomy (surgical airway in the neck) may be considered. It can make airway suctioning and ventilator support easier. This is a major decision involving detailed goals-of-care discussions with the patient and family.

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Preventions ( Ways to Reduce Risks and Complications)

Because chorea-acanthocytosis is genetic, we cannot yet prevent the basic disease, but we can reduce complications and help families make informed choices.

1. Genetic counseling and carrier testing for at-risk relatives to inform future pregnancy decisions.

2. Regular neurologist visits to adjust medicines early and prevent severe side effects or uncontrolled seizures.

3. Early swallowing assessments to reduce choking and aspiration pneumonia risk.

4. Fall-prevention strategies at home and outside to avoid fractures and head injuries.

5. Vaccinations (e.g., influenza, pneumonia, COVID-19 as recommended) to lower infection risk in a vulnerable person.

6. Dental check-ups to prevent tooth decay and infections that can worsen nutrition and general health.

7. Early treatment of mood and behavior symptoms to reduce distress and risky behaviors.

8. Avoiding unnecessary sedating or antipsychotic drugs that might worsen movement problems unless clearly needed and supervised.

9. Maintaining good nutrition and hydration to support immunity, muscle strength, and wound healing.

10. Planning ahead for emergencies (seizure plan, contact numbers, local hospital) so families can act quickly when something sudden happens.

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When to See Doctors

You should work with your regular neurologist and primary-care doctor on a set visit schedule (for example every 3–6 months). However, urgent medical review is needed if any of the following happen:

• New or rapidly worsening jerky movements, stiffness, or trouble walking.

• New or more frequent seizures, or seizures lasting longer than usual.

• Sudden choking episodes, repeated coughing during meals, or unexplained fever and breathing difficulty.

• Strong changes in mood or behavior, such as severe sadness, extreme anxiety, confusion, or aggression.

• Rapid weight loss, dehydration signs (very dry mouth, dark urine), or inability to take medicines by mouth.

If you are ever unsure, it is safer to contact a doctor, emergency service, or local health line, especially for breathing problems, long seizures, or big injuries from falls.

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What to Eat and What to Avoid

1. Choose soft, moist, high-calorie foods such as mashed potatoes with butter, yogurt, smoothies, and soft rice dishes to reduce chewing effort and choking risk.

2. Add healthy fats (olive oil, nut butters, avocado) to boost calories in small portions, useful when constant movements burn extra energy.

3. Eat small, frequent meals if large meals are tiring; this keeps blood sugar more stable and helps maintain weight.

4. Include protein at each meal (eggs, dairy, lentils, fish, lean meat) to support muscle maintenance and recovery.

5. Drink enough fluids (water, soups, oral nutrition drinks) to prevent dehydration and constipation; thickened fluids may be safer if swallowing is weak.

6. Avoid very hard, dry, or crumbly foods like dry nuts, chips, or hard biscuits that are easy to choke on.

7. Limit alcohol because it worsens balance, interacts with many medicines, and can damage liver and brain cells.

8. Be careful with very sugary drinks and sweets, which add calories but no nutrients and can harm teeth, especially if dental care is difficult.

9. Watch for food–drug interactions, such as grapefruit with some medicines; your pharmacist or doctor can give a personalized list.

10. Follow any texture and posture advice from the swallowing therapist, such as thickened liquids or pureed meals, to keep eating as safe as possible.

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Frequently Asked Questions

1. Is chorea-acanthocytosis the same as Huntington’s disease?
No. Chorea-acanthocytosis can look similar to Huntington’s disease because both cause jerky movements and behavioral changes. However, they are separate diseases with different genes and patterns. ChAc is usually caused by VPS13A gene mutations, and acanthocytes (spiky red blood cells) are common. Genetic testing is needed to tell them apart.

2. Is there a cure for chorea-acanthocytosis?
At present there is no cure and no treatment that stops the underlying genetic process. Management focuses on controlling symptoms, preventing complications, and keeping the person as independent and comfortable as possible. Research into gene-related and cell-based therapies is ongoing, but these are not yet standard treatments.

3. How fast does the disease progress?
Progression is usually slow over many years. Symptoms often start in early or mid-adulthood, but onset age can vary. Movement, speech, and swallowing gradually worsen, and seizures or mood symptoms may appear. The exact speed is different for each person and depends on many genetic and environmental factors.

4. Can children get chorea-acanthocytosis?
Yes, but most reported cases start in young to middle adults. Because it is autosomal recessive, a child must inherit a non-working copy of VPS13A from both parents. In families with known mutations, children can be tested and monitored with careful genetic counseling.

5. Is chorea-acanthocytosis contagious?
No. It is not an infection and cannot spread from person to person. It is a genetic condition present from birth, even if symptoms show up later. Close contact, sharing food, or blood donation do not transmit the disease.

6. What tests help diagnose chorea-acanthocytosis?
Doctors use a mix of clinical examination, brain imaging, blood tests, and genetics. Typical tests include MRI of the brain, blood smear to look for acanthocytes, CK levels, nerve studies, and VPS13A gene testing. These tests help exclude other similar diseases and confirm the diagnosis.

7. Why are there spiky red blood cells in this disease?
In many patients, red blood cells have irregular, spiky edges called acanthocytes. This likely reflects changes in membrane proteins and lipids linked to the missing chorein protein. While these cells are a useful clue for diagnosis, they do not fully explain all the brain symptoms.

8. Can deep brain stimulation help everyone with ChAc?
DBS can dramatically help some people with severe, disabling movements, but it is not suitable for everyone. Good candidates usually have stable overall health, clear movement problems that respond to DBS targets, and realistic expectations. Results can vary, and DBS does not stop disease progression or cure other symptoms like dementia or psychiatric issues.

9. Do all patients need a feeding tube?
No. Some people manage safely with careful diet changes and swallowing strategies. A feeding tube is considered when weight loss, choking, or repeated chest infections show that oral feeding is no longer safe or sufficient. The decision involves the patient, family, neurologist, and nutrition team.

10. How are seizures treated in chorea-acanthocytosis?
Seizures are treated with standard anti-seizure medicines such as levetiracetam, valproate, lamotrigine, or others chosen for the person’s seizure type and other health issues. Doses are increased slowly and monitored with blood tests when needed. The aim is to minimize seizures with the fewest possible side effects.

11. What about pregnancy in someone with ChAc?
Pregnancy requires careful planning. Some medicines, especially valproate, are very risky for the developing baby and may need to be changed well before conception. Genetic counseling can explain the chance of passing on the VPS13A mutation. Decisions about pregnancy are very personal and should always involve both neurology and obstetric teams.

12. Can exercise help, or is it dangerous?
Gentle, supervised exercise can help maintain strength, flexibility, and mood. However, high-risk activities with fall danger should be avoided. A physiotherapist can design a safe program that might include walking with aids, stationary cycling, or water-based therapy. The key is “little and often,” not over-exertion.

13. Are there clinical trials for chorea-acanthocytosis?
Because ChAc is very rare, clinical trials are limited but do exist in some countries. Trials may focus on symptomatic drugs, neuroprotective agents, or gene-based strategies. Research registries and specialist centers often know about current studies. Joining a patient organization can also help families hear about new trials.

14. How can families cope emotionally with this disease?
This condition affects the whole family. Counseling, support groups, and open communication can ease emotional pressure. Breaking tasks into small steps, sharing care duties, and planning regular respite breaks are practical ways to reduce burnout. Many families find it helpful to connect with others living with rare neurological diseases.

15. What is the most important message for day-to-day life?
The most important idea is that small, consistent steps make a big difference: regular check-ups, safe home design, balanced nutrition, gentle exercise, and honest conversations about feelings and future plans. There may not be a cure yet, but there are many ways to protect dignity, comfort, and connection for the person and their family.

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: January 14, 2026.