Chorea-acanthocytosis (ChAc) is a rare genetic disorder characterized by abnormal movements and deformed red blood cells called acanthocytes. It is not contagious and cannot be transmitted from person to person. ChAc is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. The symptoms of ChAc can vary widely among affected individuals and may include chorea, muscle weakness, cognitive decline, and psychiatric symptoms. Although ChAc is not contagious, it is important for individuals with the condition to receive appropriate medical care and support.
Chorea-acanthocytosis (ChAc) is a rare genetic disorder that affects the nervous system and blood cells. It is characterized by abnormal movements (chorea) and the presence of misshapen red blood cells (acanthocytes). ChAc is caused by mutations in the VPS13A gene.
ChAc is an inherited condition, which means it is passed down from parents to their children. It follows an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to develop the disorder. Therefore, ChAc is not contagious and cannot be transmitted from person to person through contact or exposure.
The symptoms of ChAc usually appear in adulthood, typically between the ages of 20 and 40. These symptoms can vary widely among affected individuals but often include involuntary movements, muscle weakness, difficulty with coordination, and cognitive decline. Acanthocytes, the misshapen red blood cells, can be observed under a microscope in a blood sample.
While ChAc is not contagious, it is important for individuals with the condition to receive appropriate medical care and support. Genetic counseling may be recommended for affected individuals and their families to understand the inheritance pattern and potential risks for future generations.