Chorea Acanthocytosis: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Chorea Acanthocytosis?
A primary care doctor is often the first person a patient sees and can start the evaluation and coordinate care. Most patients are then referred to a neurologist, a doctor who specializes in brain and nerve disorders. A geneticist may also be involved, and many patients are treated at centers that focus on movement disorders.
What it is
Chorea acanthocytosis is a rare disease that affects the brain and the red blood cells. Chorea means jerky, unplanned movements that a person cannot control. Acanthocytosis means that some red blood cells have an odd, spiky shape when seen under a microscope. The disease causes problems with movement, thinking, and behavior. It gets worse slowly over many years.
Symptoms
The most common sign is chorea, which means sudden jerky movements of the arms, legs, or face. Eating and swallowing can become hard, which may lead to weight loss. Symptoms usually begin between ages 25 and 45, but the age can vary.
Causes and who gets it
Chorea acanthocytosis is caused by a change in a gene called VPS13A. A person gets the disease only when they inherit one changed copy of this gene from each parent. Parents who carry just one changed copy usually have no symptoms.
How doctors diagnose it
There is no single simple test, so doctors use several steps. A blood test can show the spiky red blood cells that give the disease its name, and genetic testing can confirm the diagnosis. Doctors may also order brain scans to rule out other causes of movement problems.
Treatment
There is no cure, and care focuses on easing symptoms and keeping quality of life as high as possible. Medicines can sometimes reduce the jerky movements, though they do not stop the disease from getting worse. Speech therapy, physical therapy, and feeding support may be needed as symptoms change.
When to see a doctor
Anyone with uncontrolled jerky movements, unexplained changes in behavior, or trouble swallowing should see a doctor. A person with a family history of the disease should mention this at the visit.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance for visits, while a concierge doctor usually charges more and often works alongside insurance. Either kind of doctor can spend extra time on complex problems like this one, manage general health needs, and coordinate referrals to a neurologist or geneticist. When specialized care is needed, they would refer the patient to the right specialist and stay involved as the main point of contact.
Common questions
Is chorea acanthocytosis the same as Huntington's disease?
No, they are different diseases, but both can cause jerky movements. Huntington's disease is caused by a change in a different gene. Doctors use genetic testing to tell them apart.
Can chorea acanthocytosis be passed to my children?
A child gets the disease only if they inherit one changed copy of the VPS13A gene from each parent. If only one parent carries the changed gene, the child is usually a carrier without symptoms. A genetic counselor can explain the chances for a specific family.
How fast does the disease get worse?
It usually gets worse slowly over 10 to 20 years, but the pace differs from person to person. Some symptoms can be managed with treatment. Regular medical care helps address problems as they come up.
Sources
- NIH Genetic and Rare Diseases Information Center - Chorea-acanthocytosis
- MedlinePlus Genetics - Chorea-acanthocytosis
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
