My daughter has Friedreich ataxia. Both of her parents are black, and her paternal great grandmother is of Irish descent. How did my daughter inherit this condition, and how can I find other families that are in a similar situation?
Friedreich ataxia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Last updated: 11/19/2015
Can Friedreich ataxia affect individuals of any ethnicity?
Some genetic disorders are more likely to occur among people who trace their ancestry to a particular geographic area. People in an ethnic group often share certain versions of their genes, which have been passed down from common ancestors. If one of these shared genes contains a disease-causing mutation, a particular genetic disorder may be more frequently seen in the group. Although rare, Friedreich ataxia is the most common form of hereditary ataxia, affecting about 1 in every 50,000 people in the United States. This condition is typically found in people with European, Middle Eastern, or North African ancestry and it is rarely identified in other ethnic groups. There have been no reports of individuals with Friedreich ataxia in Southeast Asia, in sub-Saharan Africa, or among Native Americans. About 1 in 100 Americans are Friedreich ataxia carriers, but in some ethnic groups the frequency is higher. For example, about one in 70 people of Acadian (Cajun) ancestry are carriers.
Last updated: 12/13/2010
How can I find other families with Freidreich ataxia that are in a similar situation?
The Friedreich's Ataxia Parents' Group, an online support group, is an international group that includes parents and guardians of children with this condition and other childhood-onset ataxias. This website provides a forum to share unique experiences and knowledge of how individuals have learned to cope with ataxia in their families.
To view a list of resources for individuals and families with Friedreich ataxia (including the support groups mentioned above), click here.
Last updated: 12/13/2010
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please