Researchers Find Gene Linked to Primary Ciliary Dyskinesia Respiratory Disease
A gene mutation is the focus of new research in the cause of primary ciliary dyskinesia (PCD), a genetic respiratory disorder. The inherited condition affects one in every 20,000 people and causes respiratory complications similar to cystic fibrosis.
Researchers at the University College London studied a family whose two children were diagnosed with PCD. After completing genetic analysis of the children and their healthy relatives, it was revealed that a mutation in the CCDC151 gene caused PCD. This discovery could help improve genetic testing and genetic therapy designed to identify the mutations and develop therapy.
Patients with PCD are more prone to respiratory infections due to the lack of or abnormal movement of the cilia in the lungs which keep the airways clean and free of bacteria and irritants. There are other less common but more serious conditions associated with PCD such as unusual internal organ placement, hydrocephalus (excess cerebrospinal fluid which can cause brain damage), fertility issues, and congenital heart defects.
While many people living with PCD are able to lead normal lives and hold a job and have a family, severe cases can result in an inability to work and earn a living. In cases where persistent respiratory infections or associated conditions cause chronic impairment that renders a PCD patient unable to perform substantial gainful activity, long-term disability benefits may be available through private health insurance or government programs.
If your child is diagnosed as having been born with a genetic defect that could prevent him or her from working as an adult, he or she may qualify for long-term disability programs. Disability Help Group is here to help families whose members suffer from any type of disabling condition that impairs their ability to work and earn a living. If you believe your loved one qualifies for disability benefits, call today – 1-(800)-800-3332.