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Updated: Jul 18, 2026

Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease
Published on: April 17, 2017
[Adult onset nemaline myopathy revealed by respiratory insufficiency]
P Befort1, L Landreau, A M Pagès
1Consultation des Maladies Neuromusculaires, Service de Neurologie A, Centre Gui de Chauliac, Montpellier.
Introduction:
We report a case of nemaline myopathy revealed in adulthood by a respiratory insufficiency.
Case Report:
A 26-year-old patient, without past history, was admitted with respiratory and right cardiac insufficiency which appeared in a few days. There was a severe restrictive lung impairment with nocturnal hypoventilation. Minor skeletal abnormalities and areflexia suggested a congenital myopathy. Muscle biopsy revealed a nemaline myopathy.
Conclusion:
Respiratory insufficiency is common in nemaline myopathy with infancy or childhood onset, but very rare in adults. It may be explained by multiple mechanisms.
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