Diagnosis and stories

Diagnosis and stories

DISSEMINATION TO PROMOTE RESEARCH

The mutation of the X chromosome leads to a dramatic impairment of neuritis growth, with an impact on the length of dendrites and axons.

This mutation mainly involves intellectual disability and delayed neurodevelopment.

It was once thought that females were asymptomatic, as is often the case with other genetic alterations.

Unlike other X-chromosome mutations, the Nexmif gene has as many symptoms in females as in males. Unlike males, however, females develop a more severe form of epilepsy, which is more difficult to treat.

It is essential to recognize the symptoms of the Nexmif gene to have a timely diagnosis and proceed with the most appropriate treatments.

Our girls

Our girls

AND THEIR STORIES

The story of Anna

Anna was born in 2016. The initial development was regular and there was no reason to suspect disease, the overall health was good.