Type

Report

Authors

Noel G McElvaney
Michael A Farrell
Emer Kelly

Subjects

Medicine & Nursing

Topics
etiology follow up studies respiration artificial myopathies nemaline complications forced expiratory flow rates diagnosis biopsy electromyography male diagnosis differential respiratory insufficiency physiology humans therapy adult physiopathology

Adult-onset nemaline myopathy presenting as respiratory failure. (2008)

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.
Collections Ireland -> Royal College of Surgeons in Ireland -> PubMed

Full list of authors on original publication

Noel G McElvaney, Michael A Farrell, Emer Kelly

Experts in our system

1
Noel G McElvaney
Royal College of Surgeons in Ireland
Total Publications: 194
 
2
Michael A Farrell
Royal College of Surgeons in Ireland
Total Publications: 43