RT Journal Article SR Electronic T1 Adult-Onset Nemaline Myopathy Presenting as Respiratory Failure JF Respiratory Care FD American Association for Respiratory Care SP 1490 OP 1494 VO 53 IS 11 A1 Emer Kelly A1 Michael A Farrell A1 Noel G McElvaney YR 2008 UL http://rc.rcjournal.com/content/53/11/1490.abstract AB Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function test results improved substantially, and over the 4 years since diagnosis his respiratory function remained stable. There are few reported cases of respiratory failure in patients with adult-onset nemaline myopathy, and the insidious onset in this case is even more unusual. This case highlights the varied presenting features of adult-onset nemaline myopathy and that noninvasive ventilation improves respiratory function.