[Adult onset nemaline myopathy revealed by respiratory insufficiency]. / Révélation d'une myopathie à bâtonnets par une insuffisance respiratoire de l'adulte.

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.