Nemaline myopathy revealed by respiratory failure in adults

Details

Serval ID
serval:BIB_4B3C84DEDF1B
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Nemaline myopathy revealed by respiratory failure in adults
Journal
Respiratory Medicine Extra
Author(s)
Bourdin G., Lazor R., Cottin V., Bouhour F., Streichenberger N., Vial C., Petitjean T., Cordier J.F.
ISSN
1744-9049
Publication state
Published
Issued date
2007
Peer-reviewed
Oui
Volume
3
Number
3
Pages
127-129
Language
english
Abstract
Most forms of myopathy may involve the respiratory muscles and progress to respiratory failure. However, the diagnosis of myopathy is seldom considered in an adult patient with no history of muscle disease and presenting with respiratory failure. Nemaline myopathy (NM) is a rare disorder characterized by symmetrical diffuse muscle weakness and rod-like nemaline bodies in muscle fibers. Respiratory muscle involvement is a major determinant of mortality in congenital NM, but is rare in late onset NM.
Here, we report that acute or chronic respiratory failure may be caused by NM in subjects with no known history of muscle disease. Adult-onset NM was diagnosed in a 67-year-old woman with chronic respiratory insufficiency. Late onset childhood NM was revealed by respiratory failure in twin sisters aged 31. The diagnosis was established by muscle biopsy and electron microscopy (and mutations in the nebulin gene in the two sisters). Long-term clinical improvement was obtained with non-invasive ventilation (NIV) in the three patients.
In conclusion, respiratory failure in an adult patient with no known history may correspond to NM with diaphragm involvement. Long-term outcome may be favorable with NIV.
Keywords
Nemaline myopathy, Respiratory failure, Respiratory insufficiency, Non-invasive mechanical ventilation
Create date
14/03/2009 19:53
Last modification date
20/08/2019 13:59
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