RESUMEN
Congenital myopathy is an uncommon neonatal disorder that can manifest in the neonatal period with severe features. Presentation with signs of global hypotonia and respiratory insufficiency are among the classic findings. Rapid diagnosis is essential for medical management and family support. This case study reviews the presentation of hypotonia in the newborn, followed by a path to a diagnosis of nemaline myopathy in the form of an ACTA-1 mutation. This review can aid the clinician in the diagnosis of patients in whom hypotonia is present at birth. Included is a discussion of the incidence, pathophysiology, diagnosis, and management of this devastating disease.
Asunto(s)
Hipotonía Muscular/genética , Hipotonía Muscular/enfermería , Miopatías Nemalínicas/genética , Miopatías Nemalínicas/enfermería , Enfermería Neonatal/educación , Enfermería Neonatal/normas , Enfermeras Neonatales/educación , Curriculum , Educación Continua en Enfermería , Femenino , Humanos , Recién Nacido , Masculino , Mutación , Guías de Práctica Clínica como AsuntoRESUMEN
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.