PREPL(prolyl endopeptidase like) deficiency, also known as congenital myasthenic syndrome 22 (CMS22), is an autosomal recessive disease. It is mainly characterised by neonatal hypotonia and feeding problems that spontaneously improve during infancy. In childhood, mild proximal and cranial weakness remains, and children often develop overweight and growth hormone deficiency. Intelligence varies, but often is below average.
Prevalence currently is difficult to estimate due to underdiagnosis and long diagnostic delays. Based on known patients in Flanders, the minimal prevalence would be 1 per 1000000.
PREPLis involved in several autosomal recessive contiguous gene deletion syndromes at 2p21.
The function of PREPLand the pathophysiology of PREPLdeficiency are still incompletely understood, but involve synaptic function and neuromuscular transmission.
Treatment is mainly supportive, although growth hormone deficiency is treatable and muscle weakness has been reported to respond to pyridostigmine in the first 2 years of life.
PREPL