Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) is a rare hereditary disease caused by a mutation in a gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name neuroacanthocytosis. When a patients blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes. Other effects of the disease may include epilepsy, behaviour changes, muscle degeneration, and neuronal degradation similar to Huntingtons disease. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to premature death. Chorea-acanthocytosis is a very complex autosomal recessive adult-onset neurodegenerative disorder. It often shows itself as a mixed movement disorder, in which chorea, tics, dystonia and even parkinsonism may appear as a symptom.This disease is also characterized by the presence of a few different movement disorders including chorea, dystonia etc.Chorea-acanthocytosis is considered an autosomal recessive disorder, although a few cases with autosomal dominant inheritance have been noted. Signs and symptoms
There are multiple symptoms that can help this disease to be diagnosed, this disease is marked by the presence of acanthocytes in blood (these acanthocytes can sometimes be absent or even make a late appearance in the course of the disease.)
For example, botulinum toxin injections can help to control orolingual dystonia.Deep brain stimulation is a treatment that has varied effects on the people suffering from the symptoms of this disease, for some it has helped in a large way and for other people it did not help whatsoever, it is more effective on specific symptoms of the disease. Patients with chorea-acanthocytosis should undergo a cardiac evaluation every five years to look for cardiomyopathy. References
External links
GeneReviews/NCBI/NIH/UW entry on chorea-acanthocytosis