Chorea, remitting, with nystagmus and cataract is an extremely rare, inherited brain and eye condition. It causes three main problems in the same child: chorea (fast, jerky, dance-like movements), nystagmus (eyes that move back and forth by themselves), and cataracts (clouding of the eye lens).
“Chorea, remitting, with nystagmus and cataract” is a very rare, inherited movement and eye problem seen in some families. Children develop jerky, dancing–like movements of the arms, legs, or face (chorea), fast shaking eye movements (nystagmus), and early clouding of the eye lens (cataract). In the classic description, the chorea and nystagmus start in infancy, slowly get better, and often almost disappear in the first 10–15 years of life, while the cataracts may remain and later need surgery. This pattern is similar to “benign hereditary chorea,” but the combination with nystagmus and cataract makes it a special subtype.
Because the condition is so rare, there are no large treatment trials just for this exact syndrome. Doctors therefore use treatments that are proven in related disorders like Huntington’s chorea, benign hereditary chorea, congenital or acquired nystagmus, and childhood cataracts. The main goals are to keep the child safe, improve movement control, protect vision, and support learning and daily life.
The chorea and nystagmus usually start in early infancy and then slowly get better and almost disappear during the first 10 years of life. Because of this, we say the chorea is “remitting.” The cataracts tend to stay and can cause blurred vision if not treated.
Only a few families have ever been reported in the medical literature. In the first report, two brothers had congenital chorea, monocular horizontal nystagmus (one eye moved side-to-side), and peripheral cataracts, with normal basic blood and urine tests.
Doctors think this condition is genetic, probably passed down in families, and it shares features with benign hereditary chorea and other familial movement disorders, but the combination of remitting chorea plus eye problems makes it unique.
Another names
This disorder is so rare that only a few official names are used. Different databases and papers may use slightly different words, but they all describe the same basic syndrome.
Chorea, remitting, with nystagmus and cataract – This is the most common medical name. It clearly lists the three key features: remitting chorea, nystagmus, and cataract.
Chorea, Remitting With Nystagmus and Cataracts – Some sources add an “s” to cataract to show that cataracts can affect both eyes or different parts of the lens.
Familial remitting chorea, nystagmus, and cataracts – The original case report used this name to stress that the condition runs in families (familial) and that the combination of movement and eye problems is inherited.
OMIM 601372 disorder – In genetic and research settings, the disorder is sometimes referred to by its OMIM number 601372, which is a unique code in a genetic disease catalog.
These names all point to the same rare childhood-onset syndrome that combines remitting chorea with eye movement and lens changes.
Types
Doctors have not created official subtypes because so few families are known. However, in clinical practice, it can be helpful to think of a few clinical patterns or “types.” These are descriptive, not formal categories.
Classic familial type
This type matches the original family report: early-onset chorea, monocular horizontal nystagmus, and peripheral cataracts in siblings from the same family, with symptoms slowly improving over childhood.Movement-dominant type
In some children, the chorea and other movement problems are more obvious than the eye problems at first. Cataracts and detailed eye signs may be found later on specialist eye examination.Eye-dominant type
In other children, nystagmus and cataracts may be the main early complaint, such as poor vision, shaky eyes, or glare, while the chorea is mild or only seen when a neurologist looks carefully.Early-remitting type
Here, the chorea improves quite quickly in early childhood, and by late childhood the movements are almost gone. Eye changes (especially cataracts) may still need long-term follow-up and sometimes surgery.Possible sporadic-appearing type
A child may seem to be an “only case” at first, without a clear family history. Later, subtle signs in relatives or genetic testing may show that it is still a familial genetic condition.
Because this condition is ultra-rare, these “types” are based on how symptoms can appear in practice, not on proven separate genetic forms.
Causes
The main cause is believed to be a change in a gene that affects brain movement circuits and eye development. The exact gene is still unknown, but the pattern in siblings and the link to hereditary choreas strongly suggests a single-gene disorder.
Below are 20 related causes and mechanisms, explained in simple words. They are different aspects of the same genetic problem, not 20 separate diseases.
Inherited gene mutation
The most important cause is a harmful change (mutation) in one gene passed down in the family. This gene likely controls how certain brain and eye cells grow and work. A faulty copy can lead to chorea, nystagmus, and cataracts.Abnormal brain motor circuits
The gene problem likely disrupts brain areas called the basal ganglia, which help control smooth, planned movement. When these circuits misfire, the muscles move suddenly and randomly, causing chorea.Disturbed eye movement pathways
Nystagmus happens when the brain centers that control eye movement cannot keep the eyes steady. The same genetic change may affect the brainstem and cerebellum pathways that stabilize gaze.Abnormal lens development
Cataracts mean the clear lens in the eye becomes cloudy. A gene fault may disrupt how lens proteins are made or arranged, so the lens becomes opaque in parts (peripheral cataracts) from childhood.Channel or receptor dysfunction
Many movement and eye disorders come from changes in ion channels or receptors in nerve cells. In this syndrome, a similar mechanism may change how nerve cells signal, leading to jerky movements and unstable eye control.Disordered brain development before birth
The genetic change likely acts during fetal brain development. Even subtle wiring errors in motor and eye-movement networks can cause lifelong but non-progressive movement problems that later improve as the child grows.Abnormal neurotransmitter balance
Chorea is often linked to imbalance of brain chemicals such as dopamine and GABA in the basal ganglia. The gene defect may shift this balance, making movements too “free” and uncontrolled.Faulty motor learning and control
Children with hereditary choreas often have trouble with fine motor skills and steady movements. The brain may be less able to learn smooth motor patterns because of the underlying genetic problem.Lens protein misfolding
Cataracts often form when lens proteins clump or fold incorrectly. The unknown gene may be involved in lens protein structure or in protecting the lens from damage, leading to early clouding.Oxidative stress in the lens
Some congenital cataracts are linked to increased oxidative stress (damage from free radicals) in the lens. The genetic defect could weaken the lens’ natural defenses, allowing damage and clouding.Subtle metabolic imbalance
The reported family had normal basic metabolic urine tests, but the condition is grouped with disorders that can affect metabolism and homeostasis, suggesting there may be subtle cellular metabolic changes not seen on routine tests.Abnormal eye–brain communication
The connection between the retina, optic nerve, and visual brain areas may be altered. This can worsen visual symptoms from cataracts and make nystagmus more likely.Genetic background and modifier genes
Other genes in the family may modify how severe the chorea and eye problems are. This can explain why some family members are more affected than others, even with a similar main gene change.Autosomal inheritance pattern
The pattern of affected siblings suggests an inherited disorder, likely autosomal dominant or recessive. The exact mode is not fully established because of the very small number of families, but inheritance clearly plays a major role.Non-progressive neurodevelopmental insult
Unlike degenerative diseases that worsen over time, this condition seems non-progressive; symptoms improve. The cause is probably a one-time developmental abnormality instead of ongoing brain damage.Shared mechanism with benign hereditary chorea
Experts think this disorder overlaps with benign hereditary chorea, which has known genetic causes. Even if the exact gene here is unknown, a similar pathway (for example NKX2-1-related networks) may be involved.Eye movement control instability
In nystagmus, the eye’s “steady-fixing” system is unstable. This can be due to brainstem or cerebellar network changes caused by the same underlying gene defect, so small position errors cause continuous eye oscillations.Impaired sensory feedback
Normal movement depends on feedback from muscles, joints, and vision. If feedback is noisy or misprocessed in the brain, movements may become jerky and unpredictable, adding to chorea symptoms.Lens growth pattern disturbance
Cataracts in this syndrome are often peripheral, suggesting disturbed lens fiber growth at the edges. A subtle growth pattern change during eye development may explain this specific cataract pattern.Unknown additional genetic or environmental modifiers
Because so few cases exist, doctors cannot fully rule out small environmental factors (like nutrition or minor illnesses) that might interact with the main gene change, although the disorder is clearly primarily genetic.
Symptoms and signs
Because the condition is very rare, most symptom information comes from a few families and from what is known about chorea, nystagmus, and childhood cataracts in general.
Chorea (jerky movements)
Children have sudden, dance-like, fidgety movements that they cannot control. These movements can affect the face, arms, and legs and often get worse with stress or excitement. Over time, they slowly improve and may almost disappear.Early-onset movements in infancy
The jerky movements usually start in early infancy, sometimes soon after birth. Parents may notice that the baby seems unusually “wiggly” or has unpredictable flinging or writhing movements.Remitting course of chorea
A key feature is that the chorea is not steadily worsening. Instead, the movements slowly lessen during childhood, and by around the first decade they may be mild or gone.Monocular horizontal nystagmus
One eye may move back and forth (side-to-side) on its own. This monocular horizontal nystagmus can make the child appear to have “shaky eyes” and may cause difficulty focusing.Cataracts (cloudy lenses)
The lens of the eye becomes cloudy, especially in the outer (peripheral) part. This may be seen on eye examination and can cause blurred or reduced vision if it progresses.Blurred or reduced vision
Because of cataracts and nystagmus, children may have trouble seeing clearly. They may hold objects very close, squint, or have problems tracking moving objects.Light sensitivity and glare
Cataracts often increase sensitivity to bright light. Children may turn away from lights, prefer dim rooms, or complain of glare or halos around lights.Motor coordination difficulties
Chorea and eye problems together can make fine motor tasks, such as writing or buttoning clothes, more difficult, especially in early childhood before the chorea improves.Unsteady gait or clumsiness
Some children may appear clumsy or have trouble with balance because of involuntary limb movements and poor visual input, leading to frequent falls.Difficulty with sustained posture
Chorea often makes it hard to hold a position, such as keeping the arms outstretched or the tongue still. The child may seem unable to “stay still” during examination.Mild speech or articulation problems
Rapid involuntary movements around the face and mouth can sometimes affect speech, making words less clear or slightly slurred, especially when the child is tired or nervous.Learning and school difficulties (variable)
While not proven in this specific syndrome, children with movement and vision problems can have trouble at school due to poor handwriting, reading difficulties, or fatigue from trying to control movements.Social embarrassment or anxiety
Visible jerky movements and shaky eyes can make older children feel self-conscious. This may lead to shy behavior or anxiety in social settings.Normal basic lab tests
In the original family, routine blood and urine metabolic screens were normal. This is important because it helps separate this condition from other metabolic chorea syndromes.No evidence of brain degeneration
The course is non-progressive with improvement of movements over time. There are no signs of dementia or severe decline, which further supports a developmental rather than degenerative cause.
Diagnostic tests
Because this is a rare genetic condition, doctors first think about common causes of chorea and nystagmus and then move toward rarer diagnoses. They combine physical examination, simple bedside tests, laboratory work, and imaging.
Physical examination tests
Full neurologic examination
A neurologist checks muscle tone, strength, reflexes, coordination, and how the child moves. This helps confirm that the movements are chorea and not another movement disorder such as dystonia or tics.Observation of involuntary movements
The doctor watches the child at rest and during activity, looking for random, flowing, dance-like movements. The pattern, distribution, and triggers of the movements give important clues.Eye movement examination at the bedside
The doctor asks the child to fix their gaze on a target and then move their eyes in different directions. Horizontal nystagmus in one eye can often be seen without machines.Basic vision assessment
Simple vision tests (reading letters or matching pictures) show how well the child can see. Reduced visual acuity may point to cataracts or other eye problems that need further study.General physical and growth check
Height, weight, head size, and general physical exam help rule out broader syndromes or systemic diseases. In reported cases, children did not show major systemic illness, which fits a mainly neurologic-ocular syndrome.
Manual tests and bedside maneuvers
Coordination tests (finger-to-nose, heel-to-shin)
The child is asked to touch their nose and then the examiner’s finger, or slide their heel down the opposite shin. Jerky overshooting or difficulty can reflect chorea and coordination problems.Gait and balance testing
The child walks normally, on tiptoes, on heels, and in a straight line. The doctor looks for unsteady steps, frequent missteps, or sudden kicks caused by involuntary movements.Posture holding tests
The child is asked to hold arms outstretched or keep the tongue protruded. In chorea, it is hard to maintain these positions; the limbs or tongue drift or jerk, showing “motor impersistence.”Simple sensory tests
Light touch, pinprick, vibration, and joint position sense are checked. These tests are usually normal in this syndrome but help rule out other neurological conditions.Cover-uncover and eye alignment tests
By covering and uncovering each eye and watching for shifts, the examiner tests for strabismus or misalignment that may coexist with nystagmus and cataracts.
Lab and pathological tests
Basic blood tests (CBC, electrolytes, liver and kidney function)
These tests help rule out infections, metabolic imbalances, or organ failure that can cause acquired chorea. In the reported family, such basic tests were normal.Metabolic and endocrine tests
Tests for thyroid function, copper and ceruloplasmin (for Wilson disease), blood sugar, and autoimmune markers may be done to exclude other treatable causes of chorea and eye movement problems.Urine metabolic screening
A urine screen can check for organic acids and other substances linked to inborn errors of metabolism. In this syndrome, previous patients had normal urinary metabolic tests, which helps distinguish it from metabolic choreas.Genetic testing panels or exome sequencing
Because the exact gene is unknown, doctors may use broad genetic panels for childhood chorea or whole-exome sequencing to look for rare variants. This can confirm a familial pattern and exclude other known genetic movement disorders.Lens pathology (if cataract surgery is done)
If the child has cataract surgery, the removed lens can be examined in the lab to look at the pattern of clouding and lens fiber changes. This helps confirm a hereditary cataract pattern.
Electrodiagnostic tests
Electroencephalogram (EEG)
An EEG records brain electrical activity. It is usually normal in pure chorea but helps rule out seizures or other brain rhythm problems that might mimic jerky movements.Electromyography (EMG) and nerve conduction studies
These tests measure electrical activity in muscles and nerves. They are often normal in chorea, which is mainly a brain problem, but can exclude peripheral nerve or muscle disorders that cause abnormal movements.
Imaging tests
Brain MRI
MRI can look for structural problems in the brain, such as malformations, strokes, or tumors. In hereditary choreas, MRI is often normal or shows only subtle changes, supporting a functional or developmental cause.Brain CT (when MRI not available)
CT scanning is less detailed than MRI but can quickly exclude major brain lesions. It may be used when MRI is not accessible or when urgent imaging is needed.Detailed eye imaging (slit-lamp exam and retinal imaging)
An ophthalmologist uses a slit-lamp microscope to see cataracts clearly and may add retinal imaging or optical coherence tomography (OCT) to check the back of the eye. This helps document the pattern and severity of cataracts and any retinal changes.
Non-pharmacological (non-drug) treatments
Physiotherapy for balance and coordination
A physiotherapist teaches simple exercises to improve balance, walking, and body control. This can include standing with feet closer together, walking in straight lines, and gentle strength work. Better balance lowers the chance of falls when chorea causes sudden movements. Regular practice, even 10–20 minutes a day, helps the child’s brain learn more stable movement patterns over time.Occupational therapy for daily activities
An occupational therapist focuses on how the child eats, writes, dresses, and plays. They may suggest bigger pens, special cups, non-slip mats, and easy-fasten clothes. They also break tasks into small steps so the child can do more things independently. This reduces frustration for both the child and family and supports school performance and self-confidence.Speech and swallowing therapy
If chorea affects the face, tongue, or throat, a speech and language therapist can help with clear speech and safe swallowing. They teach slow, clear speech, breathing control, and simple strategies like taking small sips and bites. If needed, they also show family ways to thicken liquids or adjust food textures to reduce choking risk.Vision rehabilitation and low-vision training
Nystagmus and cataracts can blur vision and make reading and walking harder. Low-vision specialists teach the child to use head turns and “null points” (gaze positions where the eyes move less), and they train them to use magnifiers, large-print books, or high-contrast reading materials. This helps the child get the best possible use from their remaining vision.Low-vision aids and assistive devices
Tools like hand magnifiers, electronic magnifiers, high-contrast tablets, large-print school books, and good task lighting can make a big difference. Simple changes such as a reading stand to bring text closer to the eyes, or a desk lamp with adjustable brightness, often improve comfort and reading speed.Gaze and eye-movement training
Specialists may teach the child to look slightly to one side where nystagmus is quieter, to pause briefly before focusing, and to use slow, planned head and eye movements. These strategies can help stabilize images on the retina, improve reading, and reduce eye fatigue. They build on findings that certain gaze positions and habits can reduce nystagmus in some people.Home safety and fall-prevention changes
Because chorea and poor vision raise fall risk, families can make the home safer. Examples include removing loose rugs, keeping floors clear, using grab bars in the bathroom, installing night lights, and ensuring good footwear with non-slip soles. Simple safety changes greatly reduce injuries from sudden, unpredictable movements.Regular aerobic exercise
Gentle, regular activities like walking, swimming with supervision, or cycling on a stationary bike help heart health, mood, and sleep. Exercise may also improve motor control by strengthening muscles and helping the brain refine movement patterns. Sessions do not need to be long; even 20–30 minutes most days can be helpful, if the child tolerates it well.Strength and core-stability training
Improving trunk and leg strength helps the body resist sudden jerks. Simple exercises such as bridges, wall sits, and supervised squats can be adapted to the child’s ability. Stronger core muscles support better posture and reduce the chances of falls or injuries when chorea movements happen.Relaxation and stress-management techniques
Stress, anxiety, and tiredness can make chorea and nystagmus worse. Relaxation methods such as deep breathing, guided imagery, or simple mindfulness exercises can calm the nervous system. Practicing relaxation before school, stressful events, or bedtime can make movements less intense and help with sleep.Cognitive-behavioural therapy (CBT)
Children and teenagers with chronic movement and eye conditions may feel different, bullied, or anxious. CBT with a psychologist can help them understand their feelings, challenge negative thoughts, and learn coping skills. This support can reduce anxiety and depression, which may in turn lessen the severity of visible movements in stressful situations.Family education and genetic counselling
Because this condition is usually inherited, families often benefit from genetic counselling. A genetic counsellor explains the pattern of inheritance, the chance of having another affected child, and possible testing options. Education helps families plan for the future and reduces guilt or misunderstandings about the cause of the condition.Sleep hygiene support
Poor sleep tends to aggravate chorea and nystagmus. Families can build a calm bedtime routine with fixed sleep and wake times, no bright screens before bed, a dark quiet room, and avoiding caffeine in older children. Good sleep hygiene supports brain repair and often leads to better daytime control of movements.Trigger avoidance and lifestyle adjustments
Some people notice that certain things like strong caffeine, sudden emotional stress, fever, or severe fatigue worsen their movements or eye shaking. Keeping a simple symptom diary can help identify these triggers. Families and older children can then plan to reduce or avoid them when possible.School and workplace accommodations
Children may need extra time for tests, seating near the board, printed notes, or use of a laptop instead of handwriting. Teachers should understand that movements are involuntary and not misbehaviour. In adulthood, similar reasonable adjustments at work, like flexible breaks and ergonomic setups, help maintain employment and independence.Nutritional counselling
Dietitians can help ensure the child gets enough calories, protein, vitamins, and minerals, especially if eating is slow or tiring. They may suggest small, frequent meals, energy-dense foods, and safe textures. Maintaining a healthy weight supports immune function, bone health, and strength, which are all important for long-term outcomes.Light and glare control
Nystagmus and cataracts can make bright light and glare very uncomfortable. Tinted glasses, sunglasses, hats with brims, and window shades reduce glare and make it easier to see. Good control of light not only protects the eyes but also improves comfort during outdoor activities and reading.Environmental organization and clutter reduction
Keeping the home tidy and well-organized helps a person with poor vision and jerky movements move safely. Marking steps with contrast tape, using simple layouts, and keeping important objects in fixed places make daily life smoother and less stressful.Multidisciplinary clinic follow-up
Care is best when neurologists, ophthalmologists, physiotherapists, occupational therapists, and psychologists work together. Regular joint reviews detect new problems early, adjust treatments, and keep goals realistic. This team approach is common in complex movement and eye disorders and has been shown to improve quality of life.Support groups and peer connection
Although this exact condition is rare, families can join groups for movement disorders, childhood cataracts, or low vision. Meeting others with similar challenges reduces isolation, provides practical tips, and gives hope. Online communities can be especially helpful for rare diseases where local support is limited.
Drug treatments –
Very important: The medicines below are examples used in related conditions (such as Huntington’s chorea, benign hereditary chorea, congenital or acquired nystagmus, and cataracts). They are not a treatment plan for any one person. Doses are typical ranges from FDA-approved labels or expert practice; your doctor may use different doses or not use a medicine at all. Always follow a neurologist’s or ophthalmologist’s advice.
Tetrabenazine (Xenazine)
Tetrabenazine is a VMAT2 inhibitor that lowers dopamine in certain brain areas and is FDA-approved for chorea in Huntington’s disease. Typical adult dosing starts at 12.5 mg once daily and is slowly increased, often divided two or three times per day, up to about 50 mg/day, with careful monitoring for low mood, sleepiness, and Parkinson-like stiffness. It can reduce large, jerky movements but must be used under close specialist supervision because of depression and suicidal-thought risks shown in trials and labeling.Deutetrabenazine (Austedo, Austedo XR)
Deutetrabenazine is a newer VMAT2 inhibitor with a longer half-life, allowing more stable blood levels and often fewer daily doses. It is FDA-approved for chorea in Huntington’s disease and tardive dyskinesia. A common starting dose is 6 mg twice daily or 12 mg once daily for XR, then increased weekly by 6 mg/day up to a usual maximum of 48 mg/day, depending on benefit and side effects like sleepiness or depression. It may be chosen instead of tetrabenazine when a smoother effect and once-daily XR option are desired.Haloperidol (Haldol)
Haloperidol is a typical antipsychotic that strongly blocks dopamine receptors and has been used for many years to control severe chorea. Doses are usually low at first, such as 0.5–2 mg two or three times daily, and adjusted slowly. It can reduce violent movements but carries risks of stiffness, tremor, restlessness, and, rarely, serious heart rhythm problems or tardive dyskinesia, so careful monitoring is essential, especially in children and older adults.Risperidone (Risperdal)
Risperidone is an atypical antipsychotic that blocks both dopamine and serotonin receptors. It is sometimes used off-label in movement disorders to calm chorea and associated irritability or behavioural problems. Typical starting doses in older children or adults may be 0.5 mg once or twice daily, slowly increased toward 1–3 mg/day. Side effects can include weight gain, sleepiness, stiffness, and hormonal changes like raised prolactin.Olanzapine
Olanzapine is another atypical antipsychotic sometimes used when chorea is combined with mood swings or irritability. Low doses such as 2.5–5 mg at night can be increased gradually. It can help settle movements and improve sleep but often causes weight gain, increased appetite, and metabolic effects on blood sugar and cholesterol, so doctors balance benefits and risks carefully and monitor blood tests.Quetiapine
Quetiapine has a relatively calming effect and is sometimes preferred when sedation at bedtime is helpful. It is usually started at 12.5–25 mg at night and slowly raised as needed. It can help both movement control and anxiety but may cause sleepiness, dizziness, and weight gain. Because of its gentler dopamine blocking, it may be chosen when the risk of stiffness must be kept low.Clonazepam
Clonazepam is a benzodiazepine that enhances GABA, a calming brain chemical. It can reduce anxiety-related worsening of chorea and sometimes helps nystagmus symptoms. Doses are typically small (for example 0.25–0.5 mg at night, sometimes split twice daily), and increased slowly. Long-term use can cause tolerance, sleepiness, and dependence, so doctors often keep doses as low as possible.Valproic acid (valproate)
Valproate is an anti-seizure and mood-stabilising drug that increases GABA activity and can damp down abnormal movements in some patients. It is often given in divided doses, with total daily doses based on body weight and blood level targets. Side effects may include weight gain, tremor, hair thinning, and, rarely, liver or blood problems, so regular blood tests are needed, especially in children.Carbamazepine
Carbamazepine stabilises over-active nerve firing and is also used for seizures and some pain conditions. It may help reduce certain jerky or paroxysmal movements. It is started at a low dose and increased cautiously because of risks like dizziness, low sodium, and rare but serious blood or skin reactions. Blood counts and liver tests are usually checked regularly.Topiramate
Topiramate is another anti-seizure medicine that also affects glutamate and GABA pathways. It can reduce some forms of dyskinesia but may cause side effects such as weight loss, tingling in fingers and toes, slowed thinking, or kidney stones. Doses usually start low (for example 25 mg at night) and are increased slowly while watching for mental “slowness” or mood changes.Levetiracetam
Levetiracetam is used for epilepsy but sometimes helps myoclonic and other hyperkinetic movements. It is usually given twice daily, with doses adjusted for body weight and kidney function. Side effects can include irritability, mood changes, and fatigue. Because it is generally well tolerated and easy to use, some doctors consider it when other options are poorly tolerated.Gabapentin (Neurontin and related products)
Gabapentin binds to calcium channel subunits and reduces abnormal firing in nerve cells. Clinical trials suggest it can improve visual acuity and reduce the intensity of certain types of nystagmus, which may help patients with this syndrome see more clearly. Typical total daily doses in adults range from 900–2400 mg divided three times daily, with slower titration in children. Common side effects are sleepiness, dizziness, and weight gain.Memantine
Memantine is an NMDA receptor blocker approved for moderate to severe Alzheimer’s disease, but studies also show it can improve congenital or acquired nystagmus in some people. It is usually started at 5 mg daily and increased weekly up to 10 mg twice daily in adults, adjusting for kidney function. Side effects may include dizziness, confusion, or headache, so careful monitoring is needed.Baclofen
Baclofen is a muscle relaxant that activates GABA-B receptors in the spinal cord and brainstem. It is sometimes used for acquired nystagmus and spasticity. Doses often start at 5 mg three times daily and are increased gradually, watching for sleepiness and weakness. Some patients find that baclofen reduces oscillopsia (the sense that the world is bouncing) and improves comfort.Propranolol
Propranolol is a beta-blocker that can help tremor and performance anxiety. In some patients, it may slightly calm chorea that is worsened by stress or adrenaline surges. Doses vary widely (for example 10–20 mg three times daily), and doctors check for side effects such as slow heart rate, low blood pressure, or asthma worsening.Sertraline
Sertraline is an SSRI antidepressant often used when chronic illness leads to low mood or anxiety. Treating depression can indirectly improve coping with chorea and eye problems and may reduce stress-related worsening of symptoms. Doses usually start at 25–50 mg once daily and go up slowly. Nausea, sleep changes, and sexual side effects are possible.Fluoxetine
Fluoxetine is another SSRI that can help with depression and anxiety. It is usually taken once daily (for example 10–20 mg to start). Because some VMAT2 inhibitors interact with strong CYP2D6 inhibitors like fluoxetine, neurologists must review all medicines carefully when combining these drugs to avoid too-high active metabolite levels and side effects.Acetazolamide
Acetazolamide is a carbonic anhydrase inhibitor that can help some episodic movement and eye disorders. It may be tested in select patients when nystagmus or ataxia shows a periodic or episodic pattern. Typical adult doses are 250–500 mg per day in divided doses. Side effects can include tingling, kidney stone risk, and taste changes.Artificial tear drops and gels
Although not a systemic drug, lubricating eye drops and gels are an important part of treatment. They ease dryness and irritation caused by nystagmus, reduced blinking, or after cataract surgery. Used several times per day, they improve comfort and help protect the surface of the eye from damage.Anti-inflammatory steroid eye drops (short-term)
After cataract surgery or during certain eye inflammations, ophthalmologists may prescribe steroid eye drops to reduce swelling, redness, and pain. These are used for limited periods, at carefully planned dosing schedules (such as every few hours at first, then tapering). Long-term unsupervised use is unsafe, so they must always be guided by an eye specialist.
Dietary molecular supplements
Evidence for supplements in this exact rare syndrome is limited. Most data come from general neurology, eye health, or antioxidant studies. Always discuss supplements with your doctor, especially for children.
Omega-3 fatty acids (EPA/DHA)
Omega-3 fats from fish oil support brain cell membranes and may reduce inflammation. Typical adult doses used in studies are about 1–2 g of combined EPA/DHA per day with food. They may support general brain health and mood, and help heart health, but they are not a cure for chorea or nystagmus.Vitamin D
Vitamin D helps bones, muscles, and immune function. Many children with chronic illness or limited outdoor activity are low in vitamin D. Doctors often aim for around 600–1000 IU/day in children or 800–2000 IU/day in adults, adjusted by blood levels. Good vitamin D status supports bone strength, which is important if falls occur.Vitamin B-complex (especially B1, B6, B12, folate)
B vitamins are essential for nerve function and energy metabolism. When diet is limited or absorption is poor, extra B-complex can prevent deficiency-related nerve problems. Doses vary by age and product. They are not specific treatments for this syndrome but support overall nervous-system health.Magnesium
Magnesium is important for nerve signalling and muscle relaxation. Supplements (for example 100–300 mg elemental magnesium per day in older children and adults) may help muscle cramps and improve sleep. Too much can cause diarrhoea or stomach upset, so dosing should be guided by a clinician.Coenzyme Q10 (CoQ10)
CoQ10 is part of the mitochondrial energy chain and is studied in some neurodegenerative disorders. Doses in adults often range from 100–300 mg/day with food. It acts as an antioxidant and may support energy production in muscle and nerve cells, though evidence for chorea syndromes is still modest.Lutein and zeaxanthin
These carotenoids concentrate in the retina and are commonly used in eye-health formulas. Typical doses are around 10 mg lutein plus 2 mg zeaxanthin daily. They may help protect retinal cells from light-induced damage and oxidative stress, supporting overall visual function, especially when there is long-term eye disease.Alpha-lipoic acid
Alpha-lipoic acid is an antioxidant involved in energy metabolism. Doses of 300–600 mg/day in adults have been studied in nerve disorders like diabetic neuropathy. It may help reduce oxidative stress in nerves, but data in pediatric and rare chorea cases are limited, so medical supervision is important.N-acetylcysteine (NAC)
NAC boosts glutathione, a major antioxidant in the brain, and has been studied in some psychiatric and movement conditions. Doses for adults in research are often 600–2400 mg/day split into two or three doses. It may help reduce oxidative stress and modulate glutamate, but it should not be used without medical advice.Curcumin (from turmeric)
Curcumin has anti-inflammatory and antioxidant properties. Absorption is better with formulations that include piperine or lipid carriers. Doses vary widely (for example 500–1000 mg/day of standardized extract in adults). It may support general brain and joint health but should be used cautiously in people with bleeding risks or on blood thinners.Resveratrol
Resveratrol is a polyphenol found in grapes and berries, studied for neuroprotective and anti-inflammatory effects. Supplements often provide 100–250 mg/day. Evidence in movement disorders is still experimental, so its use should be discussed with a doctor, especially if combined with other medications.
Immunity-booster, regenerative, and stem-cell–related drugs
These options are not standard treatments for this specific syndrome. They are mentioned because the question asks about regenerative and immune-related therapies. Most are used only in other diseases or research. Never start or request these without a specialist team.
Intravenous immunoglobulin (IVIG)
IVIG is a purified antibody product given by drip into a vein over several hours. It is used in autoimmune nerve and brain diseases to calm an overactive immune system. Doses often range around 2 g/kg total divided over several days. In this syndrome, IVIG would only be considered if a strong immune-mediated component was suspected, which is not typical based on current reports.High-dose corticosteroids (e.g., methylprednisolone pulses)
In immune-related movement disorders, very high doses of steroids may be given for short periods to rapidly reduce inflammation. They are usually given as IV pulses in hospital. While not standard for familial remitting chorea, similar regimens may be tried in overlapping conditions where autoimmunity is proven. Long-term use carries many risks, so these treatments are time-limited and closely monitored.Rituximab and other biologic agents
Rituximab is a monoclonal antibody that depletes certain B cells and is used in several autoimmune diseases. In rare immune-mediated movement disorders, it can reduce relapses. Doses are given by IV infusion on specific schedules. In a purely inherited remitting chorea syndrome, this type of biological therapy is usually not indicated, but it is part of the wider landscape of regenerative immune-modulating treatments.Mesenchymal stem-cell (MSC) therapies (experimental)
MSC infusions from bone marrow or umbilical cord are being studied in several neurological diseases to see if they can support repair and modulate inflammation. Doses, routes, and long-term safety are still under research. For this rare familial syndrome, there is currently no robust evidence, so MSC therapy should be considered experimental and only within approved clinical trials.Gene-targeted and gene-therapy approaches (research stage)
For genetic movement disorders, scientists are exploring gene replacement, gene silencing, and other DNA-based strategies. At present, no approved gene therapy exists specifically for familial remitting chorea with nystagmus and cataract. However, as gene therapies for other inherited brain diseases progress, similar techniques may be explored in the future through carefully controlled trials.Neurotrophic or growth-factor–based therapies (research)
Certain growth factors (for example, GDNF, BDNF) and drugs that influence them are being tested in neurodegenerative conditions. Their aim is to support neuron survival and repair. At present, these treatments are experimental and not part of standard care for this syndrome, but they represent another possible future regenerative direction.
Surgeries
Cataract extraction with intraocular lens (IOL) implant
This is the main surgery for the cataract part of the syndrome. The cloudy natural lens is removed and replaced with a clear artificial lens. In children, it is usually done under general anaesthesia. The goal is to improve clarity of vision and prevent amblyopia and long-term visual loss. Cataract surgery is common, generally safe, and strongly recommended when cataracts significantly reduce vision.Eye-muscle surgery for nystagmus (often called tenotomy or recess-resect)
In some patients, eye-muscle operations can change the position where the eyes are most stable, moving the “null point” closer to straight ahead. This can reduce the amount of head turning needed and may lessen the intensity of nystagmus. The goal is to improve head posture and visual comfort, especially in school-age children.Strabismus (squint) surgery if misalignment is present
If the child also has misaligned eyes (strabismus), surgery on the eye muscles can help align them better. This may improve appearance, binocular vision, and comfort. Straightening the eyes can also make it easier for the brain to merge images, even if nystagmus remains.Re-operation or lens exchange if cataract surgery lens problems arise
Occasionally, the artificial lens can become displaced, cloudy, or not provide the best focus. In such cases, surgeons may need to reposition or replace the lens. The purpose is to restore stable, clear vision and correct significant refractive errors that glasses alone cannot fix.Deep brain stimulation (DBS) for severe, treatment-resistant chorea
In extremely severe hyperkinetic movement disorders that do not respond to medicines, DBS can be considered. Surgeons implant electrodes in specific brain areas and connect them to a pacemaker-like device in the chest. Adjusting the stimulation can reduce involuntary movements. For this rare syndrome, DBS would be exceptional and only in highly selected cases within expert centres.
Preventions
Seek early evaluation if a baby shows unexplained jerky movements or eye shaking.
Maintain regular follow-up with a paediatric neurologist and ophthalmologist.
Use home safety measures (grab bars, non-slip mats, good lighting) to prevent falls.
Ensure complete vaccination and infection prevention to avoid illnesses that can worsen neurologic symptoms.
Avoid unnecessary use of drugs known to worsen movement disorders, whenever safer alternatives exist.
Support good sleep habits, because sleep loss often aggravates chorea and nystagmus.
Encourage a healthy diet and activity level to prevent obesity and frailty, which can increase fall and surgery risks.
Provide genetic counselling for parents and older siblings when planning pregnancies.
Teach teachers and caregivers about the condition, reducing stress and bullying that may intensify symptoms.
Attend all post-surgery eye appointments and follow drops and protection instructions to prevent complications.
When to see doctors
You should see a doctor – and often a neurologist and ophthalmologist – in several situations:
When you first notice abnormal movements, eye shaking, or poor visual tracking in a baby or child.
If chorea, nystagmus, or visual problems are getting worse instead of slowly improving over the years.
If the child bumps into things, falls often, or struggles to see the board or books at school.
Before school starts, to arrange educational support and low-vision aids.
If mood changes, depression, or anxiety appear, especially when using VMAT2 inhibitors or antipsychotic medicines.
If eye pain, redness, sudden vision drop, or flashes and floaters appear after cataract surgery or at any time.
Before starting any new medicine or supplement, to check interactions and suitability.
In general, any sudden change in movement, vision, behaviour, or consciousness is an emergency and needs urgent medical care.
What to eat and what to avoid
Eat a balanced diet rich in fruits, vegetables, whole grains, and lean proteins to support overall brain and eye health.
Include fatty fish (such as salmon or sardines) or plant omega-3 sources a few times a week, if not allergic.
Use healthy fats like olive oil and nuts in moderation, which support heart and brain function.
Ensure enough calcium and vitamin D through dairy, fortified foods, or supplements as advised, to protect bones in case of falls.
Choose softer, easy-to-chew foods if chewing or swallowing are difficult, and eat slowly in a calm setting.
Avoid excess caffeine from strong tea, coffee, or energy drinks, as it may worsen shakiness and sleep.
Avoid heavy alcohol and all recreational drugs, which can damage the brain and worsen movements and balance.
Limit ultra-processed foods high in sugar, salt, and unhealthy fats, as they add little nutrition and may affect mood and weight.
Be cautious with herbal supplements without clear evidence, especially when taking prescription drugs.
Avoid crash diets or long fasting, which can lead to weakness, low blood sugar, and more falls.
Frequently asked questions (FAQs)
Is “chorea, remitting, with nystagmus and cataract” the same as Huntington’s disease?
No. Huntington’s disease usually appears in adulthood, often progresses, and includes thinking and mood changes. This familial remitting syndrome starts in infancy, tends to improve over childhood, and is not the same gene or pattern as classic Huntington’s disease, though chorea looks similar.Will the abnormal movements go away completely?
In the original families described, chorea and nystagmus largely improved or disappeared during the first decade of life, though each person is different. Early support for movement, vision, and learning gives the child the best chance to function well as symptoms remit over time.Can cataracts in this condition be cured with glasses alone?
No. Glasses can help focus light, but they cannot remove a cloudy lens. When cataracts become dense enough to affect daily life or risk amblyopia in children, cataract surgery with lens replacement is usually needed for clearer vision.Are VMAT2 inhibitors like tetrabenazine or deutetrabenazine safe for children?
These drugs are approved for chorea in Huntington’s disease in adults. Their use in children or in this specific syndrome is off-label and must be decided by paediatric movement-disorder experts. Careful monitoring for depression, sleepiness, and parkinsonism is essential.Can medicines completely stop nystagmus?
Usually no. Drugs like gabapentin and memantine can reduce intensity and improve vision in some patients, but they rarely stop nystagmus completely. Combining medicines with visual strategies, low-vision aids, and sometimes surgery often works better than any one treatment alone.Will my child go blind because of this condition?
Most children do not go completely blind, especially when cataracts and any eye alignment problems are treated early. However, vision may remain somewhat reduced due to early eye movement problems and lens clouding. Regular eye care, early cataract surgery when needed, and visual support at school are very important.Is there a special diet that cures the disease?
There is no diet that cures this genetic condition. However, a healthy, balanced diet supports the brain, eyes, and muscles and helps the child cope better with daily challenges. Supplements can correct deficiencies but should be used under medical guidance.Can my other children be affected too?
Yes, because this is a familial inherited disorder, there is a risk that other children may inherit the gene change, depending on the inheritance pattern in the family. Genetic counselling can explain the exact risk, arrange testing if appropriate, and guide family planning.Will my child be able to go to mainstream school?
Many children with this syndrome can attend regular school with some adjustments, such as seating near the board, large-print materials, and extra time for tasks. Early involvement of teachers and special-education staff helps the child reach their potential.Are sports and physical activities safe?
With proper supervision and safety measures, many low-impact sports and activities are safe and helpful. Swimming with close adult supervision, walking, and cycling with protective gear can improve strength, balance, and confidence. Activities with high risk of head injury should be discussed with the doctor.Do we need brain scans?
Many children will have at least one brain MRI to rule out other causes of chorea and nystagmus and to support the diagnosis. The exact timing and frequency depend on the neurologist’s assessment. The MRI itself does not treat the condition but guides further care.Is this condition life-threatening?
Based on reports, the main syndrome itself does not usually shorten life directly, especially as movements remit. The biggest risks are from falls, injuries, and visual problems if not managed. With good medical and supportive care, many people can live long, active lives.Can pregnancy be safe for an adult woman with this condition?
Many women with past childhood movement disorders have safe pregnancies, but planning is important. A high-risk obstetrician and neurologist should review medicines, fall risk, and eye status before conception. Genetic counselling can also help parents understand inheritance risks.Are there clinical trials for this syndrome?
Because the condition is extremely rare, there may not be trials just for this exact combination of features. However, trials for benign hereditary chorea, nystagmus treatments, and inherited eye diseases may be relevant. Neurologists and geneticists can look for research opportunities and registries.What is the most important thing families can do?
The most important steps are early diagnosis, regular follow-up with neurology and ophthalmology, a safe and supportive environment, and open communication with school and community. Combined with realistic hope about natural remission of movements and modern eye surgery, these steps give the child the best chance for a good quality of life.
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.
Levine–Critchley Syndrome
