Respiration · 2009 · 23 citations · 0 references
MedicineInternal MedicineNeurologyNeuromuscular DisordersPulmonary Function TestingPulmonologyMuscle DisordersRespiratory DiseaseRespiratory FailureMuscle Biopsy HistologyMuscle Biopsy InterpretationMuscle Enzyme TestingNasal Intermittent Positive Pressure VentilationNemaline MyopathyRespiratory InsufficiencyRespiratory Muscle InvolvementSkeletal Myopathy
A 49-year-old woman was admitted to the hospital for hypercapnia. Pulmonary function testing showed small lung volumes without parenchymal lung disease. Muscle enzyme levels were normal and the EMG was nonspecific. Finally, muscle biopsy revealed abundant nemaline bodies characteristic of nemaline myopathy. Nasal intermittent pressure ventilation was started with a preset pressure ventilator during sleeping hours with a good response.