title: [Two cases of nemaline myopathy diagnosed after episodes of respiratory failure].
abstract: Here we report two cases of congenital myopathy visited our hospital with respiratory failure. Case 1 was a 31-year-old woman, who had muscular weakness from birth but had never been diagnosed. She had an onset of pneumonia followed by severe type 2 respiratory failure. Even after the healing of pneumonia, hypercapnia remained. A diagnosis of nemaline myopathy was made after muscle biopsy. Case 2 is a 62-year-old man, who had slowly progressing respiratory failure accompanied with severe hypercapnea. His respiratory failure was improved by NIPPV. He also under went muscle biopsy and nemaline myopathy was diagnosed. Nemaline myopathy is one of congenital myopathy and is known to be a nonprogressive or slowly progressive disorder. However, some patients are diagnosed appropriately only when adult onset acute respiratory failure occurs.
authors.affiliation: Department of Respiratory Medicine, Takatsuki Red Cross Hospital.
authors.forename: Megumi
authors.initials: M
authors.lastname: Kudou
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: Kenzo
authors.initials: K
authors.lastname: Yamashita
authors.forename: Hideo
authors.initials: H
authors.lastname: Kita
authors.forename: Hirotaka
authors.initials: H
authors.lastname: Yasuba
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Hamada
mesh_terms: D000328:Adult; D001706:Biopsy; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D017696:Myopathies, Nemaline / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D012131:Respiratory Insufficiency / Q000209:etiology*; D014057:Tomography, X-Ray Computed