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PubMed This is a summary of 20 peer-reviewed journal articles Updated
Neurology

Building Your Care Team and First Visit Prep

At a Glance

People with choreoacanthocytosis (VPS13A disease) often benefit from a coordinated team led by a movement-disorder neurologist. Bring genetic reports, brain scans, medication lists, and safe home videos, and track seizures, swallowing, falls, and mood between visits.

Building a care team for an ultra-rare condition like VPS13A disease requires bringing together specialists who can address the disease from many different angles [1]. Because this condition affects movement, the brain, the nerves, and even the way you eat, no single doctor can manage it alone. An integrated, multidisciplinary approach is considered the “ideal strategy” for managing these complex symptoms [1][2].

Your Core Specialized Team

While your primary neurologist may manage your general care, a specialized team should ideally include:

  • Movement Disorder Neurologist: This specialist is usually the “captain” of your team [3]. They focus on distinguishing between chorea and dystonia, managing medications, and evaluating whether you might benefit from advanced treatments like Deep Brain Stimulation (DBS) [4][5].
  • Epileptologist: Since seizures can be a prominent or even the first symptom of VPS13A disease, a neurologist who specializes in epilepsy can help fine-tune your seizure medications and distinguish seizures from involuntary movements [6][7].
  • Speech-Language Pathologist (SLP): An SLP is critical for evaluating dysphagia (swallowing difficulty) and dysarthria (speech changes) [8]. They can perform “swallow studies” to ensure you are eating safely and suggest techniques to help you communicate more clearly [9][10].
  • Dietitian: To prevent malnutrition and dehydration, a dietitian tracks your weight and helps you modify your diet as your swallowing needs change [10].
  • Dentist or Oral-Maxillofacial Specialist: These specialists address the injuries caused by forceful tongue or cheek biting [11]. They may work with your neurologist to create protective mouthguards or coordinate Botox injections to relax the jaw [9].
  • Genetic Counselor: A counselor helps you and your family understand the autosomal recessive nature of the disease and can assist with testing for siblings or other relatives [12][13].
  • Psychology, Social Work, and Palliative Care: Crucial for managing mood changes, securing disability resources, home equipment, caregiver respite, and focusing on quality of life.

Preparing for Your First Appointment

Because VPS13A disease is so rare, your first visit to a specialist is an important opportunity to “baseline” your symptoms—measuring where you are now so your team can track changes over time [14].

Artifacts to Bring

Providing clear evidence of your symptoms can significantly speed up the clinical assessment. Consider bringing:

  1. Genetic and Lab Reports: The actual laboratory report is essential, especially to see if “copy-number analysis” (looking for missing chunks of DNA) was performed [15][16].
  2. Home Videos: It is extremely helpful to show your doctor videos of involuntary movements or “spells” (seizures), as these may not happen during the short time you are in the office [7][17]. (Privacy Note: Record only when safe, do not provoke an episode, obtain consent from other people shown, and use a secure medical portal rather than public posting).
  3. A “Symptom Timeline”: Note when seizures, movement changes, or thinking difficulties first began [18]. This helps the doctor distinguish the typical progression of VPS13A from other look-alike conditions [19].
  4. Prior Brain Imaging: Bring the actual images (on a disc or via a digital portal) of any prior MRIs, as specialists will want to look for specific patterns like striatal atrophy (shrinking in certain brain areas) [20][18].
  5. Visit Worksheet: A one-page list of current medicines, seizure rescue instructions, weight trends, and falls.

Tracking Your Symptoms

Effective communication with your team depends on your ability to describe what is happening between visits. You may want to keep a simple diary of:

  • Seizure frequency and duration: Note if awareness was lost or if injury occurred [7].
  • Eating and swallowing: Track how long meals take and if you are coughing or clearing your throat frequently [10].
  • Falls and mobility: Record when falls happen and what seemed to cause them (such as a sudden “drop” in muscle tone versus a trip) [19].
  • Mental health: Be honest with your team about changes in mood, anxiety, or obsessive behaviors, as these are common and treatable parts of the disease [14].

Common questions in this guide

Which specialists should be involved in care for VPS13A disease?
Care often involves a movement-disorder neurologist as the main coordinator, an epileptologist for seizures, and a speech-language pathologist for speech and swallowing. A dietitian, dentist or oral-maxillofacial specialist, and genetic counselor may address nutrition, mouth injuries, and inherited risk. Psychology, social work, and palliative care can support mood, equipment, caregiver needs, and quality of life.
What should I bring to my first choreoacanthocytosis appointment?
Bring genetic and other laboratory reports, prior brain MRI images, your current medication list, seizure-rescue instructions, weight trends, and a record of falls. Safe home videos of movements or spells and a timeline of symptoms can help the specialist understand what may not occur during the appointment.
How can I record movement or seizure videos safely?
Record only when it is safe and never try to trigger an episode. Get permission from anyone else shown, protect the video, and share it through a secure medical portal rather than public social media.
Why might a baseline swallow study be useful in VPS13A disease?
A speech-language pathologist can assess swallowing even before problems feel severe, because swallowing changes can affect nutrition, hydration, and safety. A baseline study gives the team a comparison point and may identify techniques or diet changes; ask your clinician whether a videofluoroscopic swallow study is appropriate.
How can doctors tell whether tongue biting is from a seizure or an involuntary movement?
The team compares the timing and pattern of tongue biting with awareness, seizure features, other movements, injuries, and any video of the episode. An epileptologist and movement-disorder neurologist can work together, and patients should not try to provoke or diagnose an episode on their own.
Could deep brain stimulation be an option for choreoacanthocytosis?
Deep brain stimulation may be considered for some people with disabling movement symptoms, but candidacy depends on the specific movement pattern, medical history, overall health, and specialist assessment. A movement-disorder neurologist can explain whether evaluation is appropriate and what to expect from the process.

Questions For You

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Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Have you or your center treated other patients with VPS13A disease, or do you have a relationship with a rare-disease specialist you can consult?
  2. 2.Who will serve as the 'point person' to coordinate information between my neurologist, speech therapist, and other specialists?
  3. 3.Given my specific movement and seizure history, how do we determine if my 'tongue biting' episodes are part of a seizure or involuntary dyskinesia?
  4. 4.Can we perform a baseline swallow study (like a Videofluoroscopic Swallow Study) even if I feel I am swallowing okay right now?
  5. 5.What is the process for evaluating whether I might be a candidate for Deep Brain Stimulation (DBS) in the future?

References

References (20)
  1. 1

    Management of Neuroacanthocytosis Syndromes.

    Walker RH

    Tremor and other hyperkinetic movements (New York, N.Y.) 2015; (5()):346 doi:10.7916/D8W66K48.

    PMID: 26504667
  2. 2

    Two case reports of chorea-acanthocytosis and review of literature.

    Huang S, Zhang J, Tao M, et al.

    European journal of medical research 2022; (27(1)):22 doi:10.1186/s40001-022-00646-7.

    PMID: 35130982
  3. 3

    [Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].

    Schneider C, Danek A, Hostmann A, et al.

    Fortschritte der Neurologie-Psychiatrie 2017; (85(5)):270-273 doi:10.1055/s-0042-123042.

    PMID: 28561176
  4. 4

    Deep brain stimulation for chorea-acanthocytosis: a systematic review.

    Wu Y, Xu YY, Gao Y, et al.

    Neurosurgical review 2022; (45(3)):1861-1871 doi:10.1007/s10143-022-01735-1.

    PMID: 35020105
  5. 5

    Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data.

    He W, Li C, Dong H, et al.

    Journal of movement disorders 2022; (15(3)):197-205 doi:10.14802/jmd.22003.

    PMID: 35880382
  6. 6

    Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

    Benninger F, Afawi Z, Korczyn AD, et al.

    Epilepsia 2016; (57(4)):549-56 doi:10.1111/epi.13318.

    PMID: 26813249
  7. 7

    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
  8. 8

    Clinico-genetic profile of case series of six Tamilian chorea-acanthocytosis families with VPS13A mutations from South India.

    Saibaba J, Narayan SK, Sugumaran R, et al.

    Parkinsonism & related disorders 2025; (137()):107917 doi:10.1016/j.parkreldis.2025.107917.

    PMID: 40554046
  9. 9

    Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case.

    Ortega MC, Skármeta NP, Diaz YJ

    Cranio : the journal of craniomandibular practice 2016; (34(5)):332-7 doi:10.1179/2151090315Y.0000000027.

    PMID: 26431448
  10. 10

    Neuroacanthocytosis: a case report of chorea-acanthocytosis.

    Xiang Y, Li S, Liu X, et al.

    Journal of integrative neuroscience 2019; (18(2)):197-201 doi:10.31083/j.jin.2019.02.165.

    PMID: 31321962
  11. 11

    Orofacial manifestations of chorea-acanthocytosis: case presentation and literature review.

    Zamora JG, Rivera C, Utsman R, Klasser GD

    Quintessence international (Berlin, Germany : 1985) 2022; (53(3)):270-276 doi:10.3290/j.qi.b2407809.

    PMID: 34881839
  12. 12

    Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.

    Walker RH

    Journal of movement disorders 2015; (8(2)):41-54 doi:10.14802/jmd.15009.

    PMID: 26090076
  13. 13

    Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report.

    Chen X, Zhang P, Wang L, Zhang Y

    BMC neurology 2023; (23(1)):350 doi:10.1186/s12883-023-03398-x.

    PMID: 37794323
  14. 14

    Chorea-Acanthocytosis: From Motor to Behavioral and Olfactory Profiles.

    Amini E, Rohani M, Jafarabadi Ashtiani A, et al.

    The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2026; 1-9 doi:10.1017/cjn.2026.10624.

    PMID: 42338354
  15. 15

    Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis.

    Spieler D, Velayos-Baeza A, Mühlbäck A, et al.

    Molecular genetics & genomic medicine 2020; (8(9)):e1179 doi:10.1002/mgg3.1179.

    PMID: 32056394
  16. 16

    Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing: Case Report.

    Hoe RHM, Zhao Y, Ong HL, et al.

    Neurology. Genetics 2024; (10(6)):e200207 doi:10.1212/NXG.0000000000200207.

    PMID: 39588054
  17. 17

    A Man With Progressive Chorea and Abnormal Trunk Movements.

    Sugumaran R, Bhuvaneswaran R

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

    PMID: 38989367
  18. 18

    Chorea-acanthocytosis: Time-dependent changes of symptoms and imaging findings.

    Suzuki F, Sato N, Sugiyama A, et al.

    Journal of neuroradiology = Journal de neuroradiologie 2021; (48(6)):419-424 doi:10.1016/j.neurad.2019.11.006.

    PMID: 31889551
  19. 19

    The Diverse Neuromuscular Spectrum of VPS13A Disease.

    Buchberger A, Riedel E, Hackenberg M, et al.

    Annals of clinical and translational neurology 2026; (13(1)):157-169 doi:10.1002/acn3.70198.

    PMID: 41030128
  20. 20

    Progressive ataxia and orolingual chorea revealing a novel VPS13A variant: a case report of chorea-acanthocytosis without peripheral acanthocytosis with a literature review.

    Ouskri A, Bouhda N, Khaissidi K, et al.

    Neurogenetics 2026; (27(1)).

    PMID: 42631781

This page offers general information about organizing care and preparing for a VPS13A disease visit; it is for education only and does not replace medical advice. Your neurologist and multidisciplinary team can tailor testing, treatment, and safety plans to your situation.