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PubMed This is a summary of 22 peer-reviewed journal articles Updated
Neurology

Symptoms and Emergency Warning Signs of ChAc

At a Glance

Choreoacanthocytosis can cause involuntary mouth and body movements, seizures, swallowing problems, nerve weakness, and cognitive or mood changes. Active choking, breathing trouble, a seizure lasting 5 minutes, repeated seizures without recovery, or a serious drop attack require emergency care.

Living with choreoacanthocytosis (ChAc) involves managing a complex set of movement and neurological symptoms. Because this condition is progressive, symptoms change over time, often shifting from overactive movements to stiffer, slower ones [1]. Understanding these shifts and knowing when a symptom becomes an emergency is essential for safe daily management.

Movement and Oral Symptoms

The most distinguishing feature of ChAc is orolingual dyskinesia—involuntary movements of the mouth, tongue, and jaw [2]. These are not just simple tics; they can be forceful and injurious.

  • Self-Injury: You may experience forceful tongue, lip, or cheek biting, often leading to ulcers or chronic mouth injuries [3][4].
  • Feeding Dystonia: Eating can become a significant challenge. You might experience tongue protrusion (the tongue pushing food out) or jaw thrusting, requiring assessment by a speech-language pathologist [5][6].
  • General Movements: Early on, you may notice chorea (dance-like, irregular movements of the limbs or trunk) [2]. Over many years, these may transition into parkinsonism, characterized by stiffness (rigidity), slow movement (bradykinesia), or tremors [1][7].

Seizures and Cognitive Changes

For some, seizures are the very first sign of VPS13A disease, appearing years before any movement issues [8][9]. These can range from focal seizures (affecting one part of the brain) to generalized tonic-clonic seizures [9][4].

Cognitive and psychiatric changes are also common but variable, though some cohorts report they affect nearly all patients at some point [10]. These may include:

  • Behavioral Shifts: Increased impulsivity, emotional instability, or changes in personality [7][11].
  • Memory and Thinking: Mild to moderate decline in executive function and memory [9][12].
  • Mental Health: Depression and anxiety are frequent. Research in one cohort indicates that roughly 10% of patients may experience suicidal thoughts, making regular mental health screenings vital [13].

Peripheral Neuropathy

You may also experience peripheral neuropathy, which is damage to the nerves outside the brain and spinal cord [8]. This can cause muscle wasting (atrophy), weakness (particularly in the legs), and a loss of reflexes [8].

Emergency Warning Signs

It is normal to experience daily involuntary movements or tics. These are part of the disease and are generally not emergencies. However, certain “red flag” symptoms require immediate medical attention.

📞 Call Emergency Services Now

1. Airway and Swallowing Emergencies
Severe dysphagia (difficulty swallowing) can lead to active choking or major aspiration [14]. Call emergency services if the person shows:

  • Active Choking: Inability to breathe, turning blue (cyanosis), gasping, or a silent cough while eating [14][15].

2. Seizure Emergencies (Status Epilepticus)
Seek immediate emergency care if:

  • A convulsive seizure lasts 5 minutes or longer [16][17].
  • Multiple seizures occur back-to-back without the person fully waking up in between [16].
  • The person has difficulty breathing or sustains a significant injury during the event [18][19].
  • Basic First Aid: Time the event. Protect from injury. Turn the person on their side when practical. Do NOT restrain them and do NOT put anything in their mouth. Follow the prescribed rescue-medication plan.

3. Sudden Loss of Tone (Drop Attacks)
If you experience a sudden, total loss of muscle control causing the head or trunk to drop without warning, leading to a serious fall, loss of consciousness, or head injury, seek immediate emergency care [5][20].

🩺 Contact Your Clinical Team Promptly

Do not wait for a routine appointment for the following changes; contact your treating team the same day or next day:

  • Signs of Aspiration: A “wet” or gurgly voice, persistent coughing after swallowing, or a new fever and productive cough (indicating possible pneumonia) [21][22].
  • Dehydration and Nutrition: Rapid weight loss, dark urine, or an inability to maintain hydration safely.

Common questions in this guide

Which ChAc symptoms mean I should call emergency services?
Call emergency services for active choking, inability to breathe, blue skin or lips, or severe breathing trouble. Emergency care is also needed for a convulsive seizure lasting 5 minutes or longer, repeated seizures without full recovery, or a sudden loss of muscle control that causes a serious fall, loss of consciousness, or head injury.
What should I do during a prolonged seizure in someone with ChAc?
Time the seizure, protect the person from injury, and turn them on their side when practical. Do not restrain them or put anything in their mouth; follow the prescribed rescue-medication plan and call emergency services if it lasts 5 minutes, repeats without recovery, affects breathing, or causes a major injury.
How can I tell if ChAc is causing a swallowing or aspiration problem?
Coughing or throat-clearing during or after meals, a wet or gurgly voice, new fever, or a productive cough can signal swallowing difficulty or aspiration. Active choking or inability to breathe is an emergency; otherwise, contact the treating team promptly for assessment, which may include a swallow study with a speech-language pathologist.
Why do people with ChAc bite their tongue or have trouble eating?
ChAc can cause forceful involuntary movements of the tongue, lips, cheeks, and jaw, including tongue protrusion and jaw thrusting. These movements can cause mouth injuries and push food out, so a speech-language pathologist can assess swallowing and discuss safety strategies.
Are sudden head drops in ChAc caused by dystonia or seizures?
A head or trunk drop can be related to a movement disorder, a seizure, or another problem such as a heart-rhythm issue, so it needs clinical assessment. Seek emergency care if the episode causes a serious fall, loss of consciousness, or head injury.
What can help prevent tongue and cheek injuries from ChAc movements?
Ask the treating team and dentist whether a dental guard is appropriate and whether botulinum toxin treatment could reduce harmful movements. The best option depends on the pattern of biting, swallowing safety, and the person’s overall condition.

Questions For You

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Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Can you refer us to a Speech-Language Pathologist for a formal swallow study to assess my risk for silent aspiration?
  2. 2.How can we distinguish my involuntary 'tongue-thrust' movements from a focal seizure that might require different medication?
  3. 3.Do I need an individualized seizure rescue plan, and which emergency medication (like midazolam) should we have on hand?
  4. 4.Are my 'head drop' episodes related to movement disorder (dystonia), or do we need to investigate them as seizures or a heart rhythm issue?
  5. 5.Given the risk of tongue and cheek biting, are there dental guards or botulinum toxin treatments that could help prevent these injuries?

References

References (22)
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    Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.

    Nagy A, Noyce A, Velayos-Baeza A, et al.

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    PMID: 30713892
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    Progress in the Diagnosis and Management of Chorea-acanthocytosis.

    Liu Y, Liu ZY, Wan XH, Guo Y

    Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih 2018; (33(1)):53-59 doi:10.24920/21802.

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    Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.

    Dulski J, Sołtan W, Schinwelski M, et al.

    Clinical neurology and neurosurgery 2016; (147()):78-83.

    PMID: 27310290
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    Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage.

    Wang M, Li H, Zhou Q, et al.

    Frontiers in neurology 2024; (15()):1352467 doi:10.3389/fneur.2024.1352467.

    PMID: 38933328
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    A Man With Progressive Chorea and Abnormal Trunk Movements.

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    Cureus 2024; (16(6)):e62004 doi:10.7759/cureus.62004.

    PMID: 38989367
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    Neuroacanthocytosis: a case report of chorea-acanthocytosis.

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    Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry.

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This page describes choreoacanthocytosis symptoms and emergency warning signs for informational purposes only and does not constitute medical advice. Seek emergency care for choking, breathing difficulty, prolonged seizures, or serious injury, and discuss individual risks with your clinical team.