What is the inheritance pattern of Friedreich's ataxia?

Friedreich's ataxia follows an autosomal recessive inheritance pattern. This means that for an individual to express the condition, they must inherit two copies of the mutated gene, one from each parent. In cases of autosomal recessive disorders, both parents may be carriers of the mutation without showing any symptoms themselves. With each child born to carrier parents, there is a 25% chance that the child will inherit both mutated genes and thus develop the condition.

Friedreich's ataxia is associated with mutations in the FXN gene, which encodes the protein frataxin involved in mitochondrial function and iron metabolism. This genetic mechanism underlies the symptoms of the disease, which primarily include progressive ataxia and other neurological impairments. Understanding the inheritance pattern is crucial for genetic counseling and risk assessment for affected families.