The life expectancy of someone with ATM mutation can vary depending on the individual, the severity of the mutation, and the age of diagnosis. ATM (Ataxia-telangiectasia mutated) is a rare, autosomal recessive genetic disorder that primarily affects the nervous system, immune system, and other body systems.
In general, the life expectancy of someone with ATM mutation is lower than the general population; however, some individuals can live well into their 30s and 40s, depending on the severity of the mutation and the age of diagnosis. To date, there are no known cases of anyone with ATM mutation living past the age of 50.
The consequences of ATM mutation can vary greatly, depending on the severity and age of diagnosis. Symptoms can include motor delays, poor muscle coordination, difficulty speaking, difficulty walking, and recurrent infections. Those with milder forms of the mutation may have fewer symptoms, while those with more severe forms may experience more debilitating symptoms.
Early diagnosis is important for managing the symptoms of ATM mutation and improving life expectancy. Treatment options may include physical and occupational therapies, dietary modifications, and medications to help manage symptoms and reduce the risk of infection. In some cases, a bone marrow transplant may be recommended to help improve the immune system.
In conclusion, the life expectancy of someone with ATM mutation can vary greatly, depending on the severity of the mutation and the age of diagnosis. Early diagnosis and treatment can help to improve life expectancy and quality of life.