Adult onset nemaline myopathy presenting with respiratory insufficiency

A 26 year old woman without past history was admitted with subacute respiratory and right cardiac failure appearing over a few days. There was a severe restrictive lung impairment with nocturnal hypoventilation. Minor skeletal abnormalities and areflexia suggested a congenital myopathy. Muscle biopsy showed the presence of a nemaline myopathy.

Respiratory failure is common in nemaline myopathy with onset in infancy or childhood, but onset in adults is very rare. It may be caused by several mechanisms.

9 references.