Is Chorea-acanthocytosis ChAc contagious?

Chorea-acanthocytosis (ChAc) is not contagious and cannot be spread through touch, bodily fluids, or proximity to others. It is a rare, inherited neurodegenerative disorder, meaning there is zero risk of transmission to family members, caregivers, or friends living with a patient.

What causes Chorea-acanthocytosis?

Chorea-acanthocytosis is a genetic condition caused by mutations in the VPS13A gene. This gene provides instructions for producing a protein called chorein, which is essential for normal cell function. Because Chorea-acanthocytosis is strictly genetic, it is passed down through families, usually in an autosomal recessive pattern, and it cannot be "caught" like an infectious disease.

Why is there stigma surrounding Chorea-acanthocytosis?

The involuntary movements (chorea) and orofacial symptoms often associated with Chorea-acanthocytosis can be misunderstood by the public. Because these symptoms manifest physically, observers sometimes incorrectly assume the condition is an infection or a virus. This stigma is entirely unfounded; there is absolutely no risk involved in hugging, sharing meals, or spending time with someone diagnosed with Chorea-acanthocytosis.

Are there environmental triggers for Chorea-acanthocytosis?

Chorea-acanthocytosis is not triggered by environmental factors like diet, climate, or exposure to pathogens. The progression of the disease is determined by the underlying genetic mutation. While specific stressors might exacerbate existing symptoms, they do not cause the disease or make it contagious. Key facts about the nature of Chorea-acanthocytosis include:

• It is an autosomal recessive disorder, meaning both parents must carry the mutation.


• There is no viral, bacterial, or fungal component to the disease.


• It typically presents between the ages of 20 and 40.


• The presence of acanthocytes (spiky red blood cells) in the blood is a diagnostic hallmark, not an infectious marker.

Next steps

• Consult with a neurologist or clinical geneticist to discuss genetic testing for family members.


• Connect with the 6 members of the Chorea-acanthocytosis community on DiseaseMaps.org to share experiences and reduce isolation.


• Educate friends and family members by sharing reliable literature to dispel myths regarding contagion.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Chorea-acanthocytosis.


• Orphanet: Chorea-acanthocytosis (ORPHA:167).


• OMIM (Online Mendelian Inheritance in Man): #200150.


• National Institute of Neurological Disorders and Stroke (NINDS) Rare Disease Database.