TY - JOUR T1 - Adult-Onset Nemaline Myopathy Presenting as Respiratory Failure JF - Respiratory Care SP - 1490 LP - 1494 VL - 53 IS - 11 AU - Emer Kelly AU - Michael A Farrell AU - Noel G McElvaney Y1 - 2008/11/01 UR - http://rc.rcjournal.com/content/53/11/1490.abstract N2 - 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. ER -