[Adult onset nemaline myopathy revealed by respiratory insufficiency].
BACKGROUND
We report a case of nemaline myopathy revealed in adulthood by a respiratory insufficiency.


METHODS
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.


CONCLUSIONS
Respiratory insufficiency is common in nemaline myopathy with infancy or childhood onset, but very rare in adults. It may be explained by multiple mechanisms.
Befort
P
P
Consultation des Maladies Neuromusculaires, Service de Neurologie A, Centre Gui de Chauliac, Montpellier.
Landreau
L
L
Pagès
A M
AM
Jonquet
O
O
Pagès
M
M
D000328:Adult; D001284:Atrophy; D001706:Biopsy; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D017696:Myopathies, Nemaline / Q000209:etiology* / Q000473:pathology; D009412:Nerve Fibers / Q000473:pathology; D012131:Respiratory Insufficiency / Q000175:diagnosis* / Q000473:pathology