open access

Vol 47, No 5 (2013)
OPIS PRZYPADKU
Submitted: 2012-07-30
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Nemaline myopathy in a newborn infant: a rare muscle disorder

Ozgur Olukman, Sebnem Calkavur, Gulden Diniz, Aycan Unalp, Fusun Atlihan
DOI: 10.5114/ninp.2013.38229
·
Neurol Neurochir Pol 2013;47(5):493-498.

open access

Vol 47, No 5 (2013)
OPIS PRZYPADKU
Submitted: 2012-07-30

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.

Get Citation

Keywords

congenital, myopathy, nemaline body, floppy, infant

About this article
Title

Nemaline myopathy in a newborn infant: a rare muscle disorder

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 47, No 5 (2013)

Pages

493-498

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

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