These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure.
    Author: Whitaker J, Love S, Williams AP, Plummeridge M.
    Journal: Muscle Nerve; 2009 Mar; 39(3):406-8. PubMed ID: 19208402.
    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.
    [Abstract] [Full Text] [Related] [New Search]