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Nemaline myopathy in a newborn infant: a rare muscle disorder
Affiliations- 2 Department of Neonatology, Children's Hospital ‘Agia Sofia’, Athens, Greece
- Acibadem Hospital, Department of Pathology, Istanbul/TURKEY, 34718 Istanbul, Türkiye
- department of pediatric neurology, medical unversity of silesia katowice
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Abstract
Nemaline myopathy (NM) is a genetically and clinically heterogeneous muscle disorder, defined by the presence of characteristic nemaline bodies on muscle biopsy. The disease has a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. The neonatal form is severe and usually fatal. The clinical variability, with differing age of onset and severity of symptoms makes the diagnosis difficult during infancy. There is no curative treatment. L-tyrosine may prevent aspiration by reducing pharyngeal secretions and drooling. Most of the patients die from respiratory and cardiac failure.
This article discusses a newborn infant who presented with generalized weakness and respiratory failure. Partial response to L-tyrosine treatment was noted. The case is worth presenting to remind clinicians of congenital myopathies in the differential diagnosis of floppy infant during neonatal period and to emphasize the importance of muscle biopsy in diagnosis.
Abstract
Nemaline myopathy (NM) is a genetically and clinically heterogeneous muscle disorder, defined by the presence of characteristic nemaline bodies on muscle biopsy. The disease has a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. The neonatal form is severe and usually fatal. The clinical variability, with differing age of onset and severity of symptoms makes the diagnosis difficult during infancy. There is no curative treatment. L-tyrosine may prevent aspiration by reducing pharyngeal secretions and drooling. Most of the patients die from respiratory and cardiac failure.
This article discusses a newborn infant who presented with generalized weakness and respiratory failure. Partial response to L-tyrosine treatment was noted. The case is worth presenting to remind clinicians of congenital myopathies in the differential diagnosis of floppy infant during neonatal period and to emphasize the importance of muscle biopsy in diagnosis.
Keywords
congenital, myopathy, nemaline body, floppy, infant
About this articleTitle
Nemaline myopathy in a newborn infant: a rare muscle disorder
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
493-498
Page views
210
Article views/downloads
445
DOI
10.5114/ninp.2013.38229
Bibliographic record
Neurol Neurochir Pol 2013;47(5):493-498.
Keywords
congenital
myopathy
nemaline body
floppy
infant
Authors
Ozgur Olukman
Sebnem Calkavur
Gulden Diniz
Aycan Unalp
Fusun Atlihan
