What It Is
MED23 gene defect, also known as autosomal recessive nonsyndromic mental retardation-18, is a genetic neurological condition characterized by intellectual delays.
It is autosomal and recessive, meaning that both parents carry some mutation on the MED23 gene and have a 25% chance of passing this gene onto their children.
There are two families known to exist worldwide- one in Algeria where five siblings are affected, and a pair of brothers in the United States.
What This Means
MED23 is a gene found in the Mediator (MED) complex, a regulator of protein-coding gene expression. The MED complex assists with transcribing genetic data required for cells to duplicate.
- Difficulty swallowing and eating in infancy
- Gastrointestinal complications in infancy
- Screaming spells in first few years of life
- Reflux symptoms in infancy
- Unable to read, write, speak, walk, or use arms in purposeful manner
- High muscle tone in arms and legs
- Sensory issues, including poor eye focus and control, trunk and head control and spasticity of extremities
- Normal height, weight, and head circumference with no physical malformations
Treatments & Therapies
There is no cure for MED23 gene defect.