Ontology highlight
ABSTRACT:
SUBMITTER: Rubbo B
PROVIDER: S-EPMC9489029 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
European respiratory review : an official journal of the European Respiratory Society 20170906 145
Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because res ...[more]