Males with Rett
Though Rett syndrome primarily affects females, rare cases in males can also occur. Understanding the unique challenges faced by males with Rett is essential to advancing research and providing support.
Understanding Rett syndrome in Males
In the majority of cases, Rett Syndrome (RTT) is a clinical diagnosis that is supported by genetic testing demonstrating a mutation of the MECP2 gene which is on the X chromosome. The location of MECP2 on the X chromosome results in more females diagnosed with Rett syndrome, but males can be diagnosed with Rett too.
When a mutation in MECP2 happens in males, symptoms may appear shortly after birth or between age 6 to 18 months and be very similar to symptoms in females. The presence of a mutation of the MECP2 gene alone is not enough to diagnose Rett syndrome; however, symptoms in males may still be caused by their MECP2 gene mutation. Working with a clinical team who can understand these issues is very important to families and provides appropriate and supportive clinical care.
Future for Males with Rett Syndrome
As advancements are made in clinical trials for females with Rett syndrome, they offer hope for males as well. Any therapies approved for Rett syndrome could be extended to males. Ongoing research should seek to improve the quality of life for all individuals affected by MECP2 mutations.
With improved diagnostic technologies, males with MECP2 mutations are being identified earlier. Therapies today aim to improve or maintain existing skills and quality of life. By supporting research into effective treatments and therapies, we move closer to a future where Rett syndrome and related disorders can be more effectively treated.
Help Accelerate Research for Males with Rett Syndrome
Improved treatments and a potential cure are being researched. Your support can help make that dream a reality while improving the lives of affected families today.