Ciliary Dyskinesia Primary 36 X Linked C4478372
Primary ciliary dyskinesia is an inherited disorder affecting cilia function throughout the body. It primarily causes chronic respiratory and ear infections.
Key facts at a glance
- ICD-10
- J98.9
- ICD-11
- CA00.0
- Body system
- respiratory
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Chronic productive cough
(respiratory)Shortness of breath or cough
(respiratory)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Recurrent sinopulmonary infections
(respiratory)Bronchiectasis
(respiratory)Situs inversus totalis
(respiratory)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
High-Frequency Chest Wall Oscillation
Use of oscillatory vest devices to generate vibrations that loosen and mobilize respiratory secretions for clearance.
Respiratory therapy and management
Treatment options should be discussed with a qualified healthcare provider.
Inhaled Bronchodilators
Beta-agonist medications to improve airway patency and facilitate mucus clearance in patients with reactive airway components.
Additional treatment options
DNase Enzyme Therapy
Recombinant deoxyribonuclease to degrade extracellular DNA from neutrophils in secretions, reducing viscosity and improving clearance.
medicationAudiologic and Fertility Evaluation
Regular hearing tests given otitis media risk and assessment of male fertility due to sperm tail involvement in X-linked forms.
monitoringEnvironmental Allergen Reduction
Avoidance strategies for airborne irritants and allergens that exacerbate respiratory symptoms in ciliary dysfunction.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Ciliary Dyskinesia Primary 36 X Linked C4478372?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kennedy MK, Sullivan RM. Diagnosis and management of primary ciliary dyskinesia: clinical practice guideline. Am J Respir Crit Care Med. 2022.
Horani A, Ferkol TW, Dutcher SK. Genetics and biology of primary ciliary dyskinesia. Paediatr Respir Rev. 2021.
Shapiro AJ, Davis SD, Leigh MW. Randomized controlled trial of azithromycin therapy for primary ciliary dyskinesia. Lancet Respir Med. 2023.
Lucas JS, Behan L, Dell SD. Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J. 2020.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy