What is the prevalence of Chorea-acanthocytosis ChAc?

How many people does Chorea-acanthocytosis ChAc affect? Does it have the same prevalence in men and women? And in the different countries?

Chorea-acanthocytosis (ChAc) is a rare genetic disorder characterized by abnormal movements (chorea) and misshapen red blood cells (acanthocytes). It is caused by mutations in the VPS13A gene. ChAc is estimated to have a prevalence of approximately 1 in 1,000,000 individuals worldwide. The condition typically manifests in adulthood, usually between the ages of 20 and 40. Symptoms progressively worsen over time, leading to significant disability and reduced life expectancy. While ChAc is considered a rare disorder, it is important to raise awareness and support research efforts to improve diagnosis and treatment options for affected individuals.

Chorea-acanthocytosis (ChAc) is a rare genetic disorder characterized by abnormal movements (chorea) and the presence of misshapen red blood cells (acanthocytes). It is caused by mutations in the VPS13A gene, which leads to dysfunction in the protein produced by this gene. ChAc typically manifests in adulthood, usually between the ages of 20 and 40.

The prevalence of ChAc is estimated to be very low, with only a few hundred cases reported worldwide. Due to its rarity, it is considered an orphan disease. ChAc has been reported in various populations, including European, Asian, and African descent, suggesting that it is not limited to a specific ethnic group.

The symptoms of ChAc can vary widely among affected individuals, making diagnosis challenging. Common features include involuntary movements, muscle weakness, cognitive decline, and psychiatric symptoms. The severity and progression of symptoms can also vary, with some individuals experiencing a more rapid decline in function.

As ChAc is a rare disorder, there is currently no cure for the condition. Treatment mainly focuses on managing symptoms and improving quality of life. This may involve medications to control movement abnormalities, physical therapy to maintain mobility, and supportive care for associated complications.

In conclusion, Chorea-acanthocytosis is a rare genetic disorder with a low prevalence worldwide. Its impact on affected individuals can be significant, necessitating proper diagnosis and management to optimize their well-being.

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