MECP2 duplication syndrome

Disease Overview

MECP2 duplication syndrome is a severe neurological and developmental disorder. Signs and symptoms include low muscle tone (hypotonia) in infancy, developmental delay, severe intellectual disability, and progressive spasticity. Other signs and symptoms may include recurrent respiratory infections and seizures. Some people with MECP2 duplication syndrome may have autistic features, gastrointestinal problems, and/or mildly distinctive facial features. The syndrome is caused by having an extra copy (duplication) of the MECP2 gene, and inheritance is X-linked. The syndrome almost always occurs in males (who have one X chromosome), but some females with the duplication on one of their two X chromosomes have some signs or symptoms. Rarely, females may have severe signs and symptoms, similar to those in males with the syndrome.[9366][9367][9368]

Treatment is individualized and based on the signs and symptoms in each person. Treatment may involve routine management of feeding difficulties, infections, developmental delays, spasticity, and seizures.[9366][9367] Respiratory infections are a major cause of death, with only half of people surviving past 25 years of age.[9368]

Synonyms

• MRXSL
• Lubs X-linked mental retardation syndrome (formerly)
• XLMR syndrome, Lubs type
• Mental retardation, X-linked, Lubs type (formerly)
• Trisomy Xq28