Nemaline myopathy revealed by respiratory failure in adults

Détails

ID Serval
serval:BIB_4B3C84DEDF1B
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Nemaline myopathy revealed by respiratory failure in adults
Périodique
Respiratory Medicine Extra
Auteur⸱e⸱s
Bourdin G., Lazor R., Cottin V., Bouhour F., Streichenberger N., Vial C., Petitjean T., Cordier J.F.
ISSN
1744-9049
Statut éditorial
Publié
Date de publication
2007
Peer-reviewed
Oui
Volume
3
Numéro
3
Pages
127-129
Langue
anglais
Résumé
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.
Mots-clé
Nemaline myopathy, Respiratory failure, Respiratory insufficiency, Non-invasive mechanical ventilation
Création de la notice
14/03/2009 20:53
Dernière modification de la notice
20/08/2019 14:59
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