Is Chorea-acanthocytosis ChAc hereditary?
Here you can see if Chorea-acanthocytosis ChAc can be hereditary. Do you have any genetic components? Does any member of your family have Chorea-acanthocytosis ChAc or may be more predisposed to developing the condition?
Chorea-acanthocytosis (ChAc) is a hereditary disorder characterized by abnormal movements (chorea) and the presence of misshapen red blood cells (acanthocytes). It is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to develop the condition. The mutated gene responsible for ChAc is called VPS13A. Genetic testing can be done to determine if an individual carries the mutated gene and is at risk of passing it on to their children.
Chorea-acanthocytosis (ChAc) is a rare genetic disorder characterized by abnormal movements (chorea) and the presence of misshapen red blood cells (acanthocytes). It is considered an autosomal recessive disorder, which means that it is hereditary and requires both parents to carry a mutated gene in order for the condition to be passed on to their children.
The genetic cause of ChAc is mutations in the VPS13A gene, which provides instructions for making a protein involved in the normal functioning of cells. These mutations lead to the production of an abnormal protein or a complete absence of the protein, resulting in the characteristic symptoms of ChAc.
When both parents carry a single copy of the mutated VPS13A gene, they are considered carriers of ChAc. Carriers do not typically show symptoms of the disorder, as they have one normal copy of the gene to compensate for the mutated copy. However, if both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene and develop ChAc.
It is important for individuals with a family history of ChAc or those who suspect they may be carriers to seek genetic counseling. Genetic testing can determine if someone carries the mutated gene and provide information about the risk of passing it on to future generations.
In conclusion, Chorea-acanthocytosis (ChAc) is a hereditary disorder caused by mutations in the VPS13A gene. It follows an autosomal recessive pattern of inheritance, meaning that both parents must carry a mutated gene for the condition to be passed on to their children. Genetic counseling and testing are crucial for individuals with a family history of ChAc to understand their risk and make informed decisions.
