title: Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure.
abstract: Idiopathic adult-onset nemaline myopathy is a rare condition of unknown etiology that usually presents with proximal weakness. This case study reports a 60-year-old woman who presented with isolated type 2 respiratory failure secondary to bilateral hemidiaphragm weakness. A left vastus medialis muscle biopsy examined under light microscopy revealed appearances typical of nemaline myopathy. Electron microscopy confirmed the presence of nemaline rods in most muscle fibers, thus establishing idiopathic adult-onset nemaline myopathy as the cause of her respiratory failure. Our patient's presentation highlights the importance of considering neuromuscular weakness as a cause of respiratory failure. Unless appropriate tests are performed-including a muscle biopsy, if indicated-specific neuromuscular diseases are easily missed. This can lead to inappropriate counseling and treatment.
authors.affiliation: University Hospital Lewisham, Care of the Elderly, Lewisham High Street, London SE13 6LM, UK. john.whitaker@trinity-oxford.com
authors.forename: John
authors.initials: J
authors.lastname: Whitaker
authors.forename: Seth
authors.initials: S
authors.lastname: Love
authors.forename: Adam Paul
authors.initials: AP
authors.lastname: Williams
authors.forename: Martin
authors.initials: M
authors.lastname: Plummeridge
mesh_terms: D000251:Adenosine Triphosphatases / Q000378:metabolism; D005260:Female; D006801:Humans; D046529:Microscopy, Electron, Transmission / Q000379:methods; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D017696:Myopathies, Nemaline / Q000150:complications* / Q000473:pathology; D012131:Respiratory Insufficiency / Q000209:etiology*
chemical_list: D000251:Adenosine Triphosphatases