MECP2 Duplication Syndrome (M2DS) is a rare genetic disorder caused by duplication of the MECP2 or Methyl CpG binding protein 2 gene located on the X chromosome (Xq28). The syndrome primarily affects males.
Symptoms[]
Common symptoms of M2DS are
- Infantile hypotonia
- Delayed psychomotor development
- Severe intellectual disability
- Minimal or absent speech
- Gait abnormalities due to muscle spasticity-half of M2DS patients never learn to walk
- Recurrent respiratory infections
- Gastrointestinal issues
- Epilepsy
- Dysmorphic features such as brachycephaly (abnormally flat back of the head), midface hypoplasia (underdevelopment of the middle of the face), large ears, deep-set eyes, prominent chin, and a depressed nasal bridge
Link to autism[]
Many sufferers of M2DS display signs of Autism.[1]
Female sufferers of M2DS are rare due to skewed X-chromosome inactivation, but female carriers of the MECP2 duplication tend to show signs of Autism and other psychiatric symptoms.[2]
Treatment[]
Currently there is no cure for M2DS. Treatment is generally supportive and based on increasing quality of life.
Prognosis[]
50% of M2DS patients die before the age of 25 due to chronic infections.
Because of the physical and mental disabilities caused by the condition, M2DS patients require lifelong care and support.