ciliary dyskinesia, primary, 52

Ciliary dyskinesia, primary, 52 is a multisystem condition that affects the normal movement of cilia, the tiny hair-like structures found on cells in various organs. Abnormal ciliary motion interferes with the proper development and functioning of several organ systems, most the heart and the respiratory tract. The genetic basis for this condition is linked to pathogenic variants in the DAW1 gene, which plays a critical role in ensuring efficient ciliary motility. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two altered copies of the gene to manifest symptoms. Although precise prevalence data are not available, the clinical presentation can vary considerably among affected individuals.

The clinical features of ciliary dyskinesia, primary, 52 span multiple organ systems. In the cardiac system, almost all affected individuals exhibit an atrial septal defect, while other heart abnormalities such as double outlet right ventricle, hypoplastic left heart, pulmonic stenosis, and ventricular septal defect are reported in a significant proportion of cases. Additional cardiac findings including transposition of the great arteries, patent foramen ovale, sinus venosus atrial septal defect, patent ductus arteriosus, discordant atrioventricular connection, total anomalous pulmonary venous return, and mitral atresia are noted less frequently, indicating a spectrum of congenital heart defects. Beyond the heart, involvement of organ laterality is evident with features such as situs inversus totalis, abdominal situs ambiguus, and abdominal situs inversus. Respiratory symptoms are also common and can include recurrent lower respiratory tract infections, chronic cough, and recurrent otitis media. Not all individuals experience every feature and the severity and constellation of symptoms vary widely between patients.

Ciliary dyskinesia, primary, 52 results from pathogenic variants in the DAW1 gene, a gene that is crucial for the structure and function of cilia. The protein product of DAW1 is involved in the assembly or regulation of the ciliary apparatus, and when its function is compromised, ciliary movement becomes inefficient. In an autosomal recessive inheritance pattern, affected individuals inherit two copies of the abnormal gene—one from each carrier parent—leading to the development of the condition. This mode of inheritance means that while parents generally do not show symptoms, there is a 25% chance with each pregnancy for another child to be affected. Genetic counseling is recommended for families to help understand the genetic implications and to discuss family planning options.

Currently, management of ciliary dyskinesia, primary, 52 focuses on supportive care and symptom management, as there are no treatments specifically approved for this condition. Treatment is highly individualized and typically involves a multidisciplinary team to address the various organ systems affected. Regular surveillance is an essential part of long-term care, helping to detect potential complications early, particularly in the cardiac and respiratory systems. Patients may benefit from routine evaluations, such as cardiac imaging and pulmonary assessments, to monitor ongoing health. In addition, managing recurrent respiratory and ear infections through prompt medical care and vigilant follow-up is critical. Families are encouraged to discuss treatment options with their healthcare team and to consider genetic counseling, as this can provide guidance for managing the condition and understanding future risks.

The outlook for individuals with ciliary dyskinesia, primary, 52 is variable, with the course of the condition ranging from stabilization to the development of complications over time. With current standards of care, many individuals are able to manage their symptoms effectively into adulthood, although the severity of manifestations such as cardiac defects or respiratory issues can differ widely between patients. Outcomes described in medical literature continue to evolve as standards of care improve, and advances in supportive management have contributed to more favorable health trajectories for some affected individuals. Because severity and symptoms vary widely, families are advised to connect with specialists experienced in managing multisystem conditions and to engage with genetic counseling for further guidance on long-term care and family planning.