ciliary dyskinesia, primary, 46

Ciliary dyskinesia, primary, 46 is a condition that primarily affects the function of motile cilia, leading to significant respiratory and other systemic issues. Genetic studies have implicated the STK36 gene in its development. It is inherited in an autosomal recessive pattern, meaning that affected individuals have inherited two altered copies of the gene. Precise prevalence estimates are not well established, and the condition is recognized by its consistent clinical findings.

Individuals with ciliary dyskinesia, primary, 46 consistently experience problems related to ciliary function. Characteristic findings include bronchiectasis, ciliary dyskinesia itself, and recurrent respiratory infections such as pneumonia, sinusitis, and otitis media. In addition, affected males typically have reduced sperm motility and all individuals may experience hearing impairment and reduced pulmonary function, as reflected by diminished forced vital capacity and forced expiratory volume in one second. Not all individuals experience every feature in the same way, and severity varies considerably.

The condition is associated with pathogenic variants in the STK36 gene. STK36 plays a role in cellular processes related to ciliary function, and its disruption contributes to the clinical manifestations observed in affected individuals. Ciliary dyskinesia, primary, 46 is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the altered gene, one from each parent, to be affected. Families with a history of this condition may benefit from genetic counseling to understand recurrence risks and implications for future pregnancies.

Currently, management focuses on supportive care and symptom management since there are no treatments approved specifically for ciliary dyskinesia, primary, 46. Treatment plans are tailored to the individual and commonly involve a multidisciplinary team to address respiratory issues, hearing impairments, and other related complications. Regular evaluations and symptomatic interventions—such as respiratory therapy and routine monitoring for complications—play a central role in long-term care. Genetic counseling is recommended so that patients and their families can explore and understand available management options.

The outlook for individuals with ciliary dyskinesia, primary, 46 varies depending on the severity of respiratory and other systemic features as well as access to timely, symptomatic care. With current standards of care, many individuals manage to lead active lives into adulthood, although the disease course can be variable. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with genetic counselors and support groups to gain guidance and share experiences regarding the management of this condition.