Case Reports Adult-Onset Nemaline Myopathy Presenting as Respiratory Failure

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 pulmo-nary function test results improved substantially, and over the 4 years since diagnosis his respira-tory 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. Key words: nemaline myopathy, respiratory failure. [Respi