A case of respiratory muscle weakness due to cytochrome c oxidase enzyme deficiency.
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.
O'Brien
A
A
University of Michigan Medical Center, Division of Pulmonary and Critical Care Medicine, Ann Arbor 48109, USA.
Blaivas
M
M
Albers
J
J
Wald
J
J
Watts
C
C
D000328:Adult; D001707:Biopsy, Needle; D030401:Cytochrome-c Oxidase Deficiency; D004232:Diuretics / Q000627:therapeutic use; D004417:Dyspnea / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D005260:Female; D006801:Humans; D018908:Muscle Weakness / Q000150:complications / Q000201:enzymology* / Q000473:pathology / Q000628:therapy; D012129:Respiratory Function Tests; D012132:Respiratory Muscles / Q000201:enzymology* / Q000503:physiopathology; D012138:Respiratory Therapy; D016896:Treatment Outcome
D004232:Diuretics