Families

PREPLdeficiency, also known as CMS22 is a rare genetic disease. It is caused by errors in the text of the PREPLgene. Signs of PREPLdeficiency include weakness at birth and problems with feeding. These signs gradually improve in the first years of life, and children with PREPLdeficiency most often learn to walk around 18 months. A drug that modifies communication between nerves and muscle, pyridostigmine, has improved strength in some children, but the effect probably disappears after the age of 2. In childhood, many children with PREPLdeficiency have an increased appetite for food and risk to become overweight. In many children growth slows down during childhood, which can be treated with growth hormone injections. When children with PREPLdeficiency grow older, signs that often remain are an unclear speech, drooping eyelids and mild weakness. Intelligence varies and often is below average. Therefore, several children needed educational help or special education.

The function of PREPLis not yet well understood. However, we know that PREPLhas a role in the communication between nerve cells and between muscle and nerve.