Related Experiment Videos
A case of respiratory muscle weakness due to cytochrome c oxidase enzyme deficiency
A O'Brien1, M Blaivas, J Albers
1University of Michigan Medical Center, Division of Pulmonary and Critical Care Medicine, Ann Arbor 48109, USA.
Insights
Mitochondrial myopathy, a rare condition, can cause respiratory failure. This case highlights successful treatment of respiratory muscle weakness in an adult using bilevel positive airway pressure therapy.
Area of Science:
- Neurology
- Genetics
- Respiratory Medicine
Background:
- Mitochondrial myopathies are typically diagnosed in infancy.
- Respiratory failure is a rare but serious manifestation.
Observation:
- A 27-year-old woman presented with acute respiratory failure.
- She had no prior respiratory symptoms.
Findings:
- The patient was diagnosed with partial cytochrome c oxidase enzyme deficiency.
- This deficiency led to significant respiratory muscle weakness.
Implications:
- Adult-onset mitochondrial myopathy can present acutely with respiratory failure.
- Bilevel positive airway pressure (BiPAP) therapy offers a viable treatment option for respiratory muscle weakness in these patients.
Abstract:
Mitochondrial myopathy is a rare cause of dyspnoea and respiratory failure, usually presenting in infancy. We describe a 27 yr old woman with a partial cytochrome c oxidase enzyme deficiency causing respiratory muscle weakness and respiratory failure. The onset was acute, with no preceding respiratory symptoms. The patient was successfully treated with bilevel positive airway pressure therapy.