Causes

The majority of cases of Rett syndrome (over 99,9%)¹ are caused by a sporadic mutation of the MECP2 gene, which is on the chromosome X. The mutation is spontaneous, which means that it occurs randomly and cannot be passed from parent to child. In a few rare cases (around 1%)², the disease is transmitted genetically by women.

Associated disorders

• Problems engines causing difficulty in walking;
• Problems of sleep. Children fall asleep during the day and are awake at night;
• Epileptic seizures;
• Difficulty in eat that lead to poor nutrition and stunted growth;
• Thin and fragile bones, prone to fracture ;
• A progressive scoliosis that may require surgery;
• Heart problems which can reduce life expectancy;
• Anxiety and behavior problems.