Adult-onset nemaline myopathy presenting as respiratory failure.

2.50
Hdl Handle:
http://hdl.handle.net/10147/136767
Title:
Adult-onset nemaline myopathy presenting as respiratory failure.
Authors:
Kelly, Emer; Farrell, Michael A; McElvaney, Noel G
Affiliation:
Department of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland. emerkelly@rcsi.ie
Citation:
Adult-onset nemaline myopathy presenting as respiratory failure. 2008, 53 (11):1490-4 Respir Care
Journal:
Respiratory care
Issue Date:
Nov-2008
URI:
http://hdl.handle.net/10147/136767
PubMed ID:
18957152
Additional Links:
http://www.ncbi.nlm.nih.gov/pubmed/18957152
Abstract:
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:
Article
Language:
en
MeSH:
Adult; Biopsy; Diagnosis, Differential; Electromyography; Follow-Up Studies; Forced Expiratory Flow Rates; Humans; Male; Myopathies, Nemaline; Respiration, Artificial; Respiratory Insufficiency
ISSN:
0020-1324

Full metadata record

DC FieldValue Language
dc.contributor.authorKelly, Emeren
dc.contributor.authorFarrell, Michael Aen
dc.contributor.authorMcElvaney, Noel Gen
dc.date.accessioned2011-07-25T08:32:52Z-
dc.date.available2011-07-25T08:32:52Z-
dc.date.issued2008-11-
dc.identifier.citationAdult-onset nemaline myopathy presenting as respiratory failure. 2008, 53 (11):1490-4 Respir Careen
dc.identifier.issn0020-1324-
dc.identifier.pmid18957152-
dc.identifier.urihttp://hdl.handle.net/10147/136767-
dc.description.abstractNemaline 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.-
dc.language.isoenen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/18957152en
dc.subject.meshAdult-
dc.subject.meshBiopsy-
dc.subject.meshDiagnosis, Differential-
dc.subject.meshElectromyography-
dc.subject.meshFollow-Up Studies-
dc.subject.meshForced Expiratory Flow Rates-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMyopathies, Nemaline-
dc.subject.meshRespiration, Artificial-
dc.subject.meshRespiratory Insufficiency-
dc.titleAdult-onset nemaline myopathy presenting as respiratory failure.en
dc.typeArticleen
dc.contributor.departmentDepartment of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland. emerkelly@rcsi.ieen
dc.identifier.journalRespiratory careen
dc.description.provinceLeinster-

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