ciliary dyskinesia, primary, 50

Ciliary dyskinesia, primary, 50 is a genetic condition that affects the function of cilia in both the respiratory and reproductive systems. Variants in the DNAH7 gene, which plays a key role in the structure and movement of cilia, underlie this disorder. Individuals with this condition often experience persistent respiratory issues and, in males, infertility due to abnormal sperm structure and function. Although specific prevalence data is not available, the condition is understood to be inherited in an autosomal recessive pattern.

Patients with ciliary dyskinesia, primary, 50 typically present with a range of clinical features stemming from impaired ciliary motion. The respiratory system is commonly affected, as evidenced by chronic sinusitis and chronic bronchitis, while the reproductive system shows distinct abnormalities such as male infertility. Characteristic sperm abnormalities reported include reduced progressive sperm motility, coiled and short sperm flagella, reduced overall sperm motility, and the absence of inner dynein arms. Not all individuals experience every feature, and severity can vary considerably.

This condition is caused by pathogenic variants in the DNAH7 gene, which encodes an essential component of the ciliary structure necessary for proper movement. Disruption of this gene impairs the function of motile cilia, leading to inefficient clearance of mucus in the respiratory tract and abnormal sperm development in males. Ciliary dyskinesia, primary, 50 is inherited in an autosomal recessive manner, meaning that an individual must inherit two altered copies of the gene, one from each parent, to be affected. Genetic counseling is recommended for families to understand recurrence risks and implications for future family planning. Associated genes include DNAH7.