What is Chorea-acanthocytosis ChAc

Chorea-acanthocytosis (ChAc) is a rare genetic disorder characterized by a combination of movement abnormalities and abnormal red blood cell shape (acanthocytosis). It is caused by mutations in the VPS13A gene, which leads to dysfunction in the protein produced by this gene. ChAc typically manifests in early adulthood and progressively worsens over time. The movement abnormalities associated with ChAc include involuntary jerking movements (chorea), muscle stiffness, and difficulty with coordination and balance. These symptoms can significantly impact a person's ability to perform daily activities. Additionally, individuals with ChAc may experience psychiatric symptoms such as personality changes, depression, and cognitive decline. Diagnosis of ChAc involves a thorough clinical evaluation, genetic testing, and examination of blood smears to identify acanthocytes. Unfortunately, there is currently no cure for ChAc, and treatment focuses on managing symptoms and improving quality of life through medications, physical therapy, and supportive care.