Severe congenital nemaline myopathy: a personal perspective.
Severe congenital nemaline myopathy is an uncommon but often fatal muscular disease. Dealing with this disorder can be devastating to both family and NICU staff. It can be difficult to diagnose because symptoms often mimic symptoms of a postasphyxial insult. Continued dependence on mechanical ventilation in the absence of severe brain damage or other cardiac or respiratory disease may be the only indication of this disorder. This article records the author's personal experience of caring for an infant with the severe form of nemaline myopathy.
Marinone
K
K
skibiker@juno.com
D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D015931:Intensive Care, Neonatal; D017696:Myopathies, Nemaline / Q000175:diagnosis / Q000451:nursing*; D017283:Neonatal Nursing / Q000379:methods*