Primary ciliary dyskinesia, an orphan disease
European Journal of Pediatrics, 07/20/2012
Boon M et al. – During embryogenesis, nodal cilia, which are motile cilia, determine the correct lateralization of the organs. Dysfunction of these cilia leads to random lateralization and thus situs inversus in approximately 50 % of the patients with Primary ciliary dyskinesia (PCD). The tail of a spermatozoon has a structure similar to that of a motile cilium. Consequently, male infertility due to immotile spermatozoa is often part of the characteristics of PCD. Given the heterogeneity and the rarity of the disorder, therapy is not evidence–based. Many treatment schedules are proposed in analogy with the treatment for cystic fibrosis.