Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Chorea acanthocytosis
Introduction
Chorea acanthocytosis is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells. When a patient’s blood is viewed under a microscope, some of the red blood cells appear thorny. The thorny cells are called acanthocytes.
Other effects of the disease may include epilepsy, behaviour changes, muscle degeneration, and neuronal degradation similar to Huntington’s Disease. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to premature death. Template:Disease-stub