Respiratory Failure in Advanced Disease

Respiratory failure is a leading cause of mortality in individuals with advanced CHKB-related muscular dystrophy. As skeletal and diaphragmatic muscles weaken, patients experience diminished inspiratory and expiratory strength, reduced cough effectiveness, and increasing susceptibility to respiratory infections.

Over time, respiratory insufficiency may manifest as sleep-disordered breathing, hypoventilation, daytime fatigue, headaches, or declining pulmonary function test results. Adolescents and young adults are at highest risk for respiratory decline, though onset varies depending on the severity of neuromuscular involvement.

Management strategies include regular pulmonary evaluation, non-invasive ventilation (BiPAP), airway clearance support, infection prevention, and coordination with respiratory specialists. These interventions can extend survival and improve quality of life, but they do not address the root cause of neuromuscular degeneration.

The progression to respiratory failure highlights the urgent therapeutic need in CHKB deficiency and reinforces the value of gene replacement strategies aimed at restoring muscle function across respiratory, skeletal, and cardiac tissues.