Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) is a rare hereditary disease—evidence suggests that only 500 to 1,000 people worldwide have the condition. It is 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 patient's 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 involuntary muscle movements, impaired balance and coordination, 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. and neurodegeneration causing a choreiform movement disorder.
Another one of them would be that this disease should be considered in patients who have elevated levels of acanthocytes in a peripheral blood film.
The serum creatine kinase is often elevated in the body of the people who are affected by this disease.
In a least one third of patients, seizures, typically generalized, are the first manifestation of disease. Impairment of memory and executive functions is frequent, although not invariable.
Diagnosis
Protein function tests that demonstrate a reduce in chorein levels and also genetic analysis can confirm the diagnosis given to a patient. For a disease like this it is often necessary to sample the blood of the patient on multiple occasions with a specific request given to the haematologist to examine the film for acanthocytes.