Affiliation
Department of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland. emerkelly@rcsi.ieIssue Date
2008-11MeSH
AdultBiopsy
Diagnosis, Differential
Electromyography
Follow-Up Studies
Forced Expiratory Flow Rates
Humans
Male
Myopathies, Nemaline
Respiration, Artificial
Respiratory Insufficiency
Metadata
Show full item recordCitation
Adult-onset nemaline myopathy presenting as respiratory failure. 2008, 53 (11):1490-4 Respir CareJournal
Respiratory carePubMed ID
18957152Additional Links
http://www.ncbi.nlm.nih.gov/pubmed/18957152Abstract
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.Item Type
ArticleLanguage
enISSN
0020-1324Collections
Related articles
- Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure.
- Authors: Whitaker J, Love S, Williams AP, Plummeridge M
- Issue date: 2009 Mar
- On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy.
- Authors: Taglia A, D'Ambrosio P, Palladino A, Politano L
- Issue date: 2012 Dec
- [Nemaline myopathy detected with respiratory failure and right ventricular heart failure].
- Authors: Ishiguro T, Takayanagi N, Kanazawa M, Kurashima K, Yoshii Y, Yoneda K, Miyahara Y, Kagiyama N, Tokunaga D, Saito H, Aoki F, Ubukata M, Yanagisawa T, Sugita Y
- Issue date: 2009 Feb
- [Nemaline rod myopathy revealed by acute respiratory failure after an outpatient cataract surgery].
- Authors: Raveau T, Lassalle V, Dubourg O, Legout A, Tirot P
- Issue date: 2012 Jul-Aug
- [Two cases of nemaline myopathy diagnosed after episodes of respiratory failure].
- Authors: Kudou M, Kobayashi Y, Yamashita K, Kita H, Yasuba H, Hamada K
- Issue date: 2006 Jun