Centronuclear myopathy in the newborn period causing severe respiratory distress.
Centronuclear myopathy can be classified into four clinical varieties based on age, severity at onset, and rapidity of progress. In the severe form with involvement of respiratory muscles at birth, the progress is rapid and fatal before 3 years of age. The case described in this report illustrates rapid progression of muscle paralysis and death in a neonate. However, in a majority of cases the disease is either moderately severe or mild with the affected individuals confined to wheel chair by adolescence or early adult life. Diagnosis of the disease is based on appropriate muscle histopathology and electron microscopic studies.
D006801:Humans; D007231:Infant, Newborn; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications* / Q000473:pathology; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology* / Q000473:pathology