Living with Chorea-acanthocytosis
A nervous system condition that causes involuntary jerking and twisting movements, along with star-shaped red blood cells.
Understanding Chorea-acanthocytosis
Chorea means involuntary jerking movements. Muscle tensing (dystonia) can affect the limbs, face, mouth, tongue, and throat, which can make eating and speaking hard. Nearly half of people have seizures. Behavior changes can be the first sign. Symptoms usually begin in early to mid-adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Involuntary jerking movements (chorea)
- Muscle tensing in the limbs or throat (dystonia)
- Behavior changes
- Motor tics
- Muscle weakness and wasting
- Falls and poor coordination
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists, seizure and epilepsy specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in VPS13A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Epilepsy Foundation, The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Neuroacanthocytosis Advocacy USA and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the VPS13A gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acanthocytosis with neurologic disorder; chac; choreaacanthocytosis; choreo-acanthocytosis; choreoacanthocytosis; levine-critchley syndrome
Patient organizations
- Neuroacanthocytosis Advocacy USAChorea-acanthocytosis · United States
- Epilepsy FoundationEpilepsy · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Chorea-acanthocytosis.
Explore research for Chorea-acanthocytosis
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