Key result
Nemaline myopathy shows marked clinical heterogeneity ranging from mild myopathy to irreversible respiratory failure.
Why the study?
Nemaline myopathy exhibits marked clinical heterogeneity, including variable severity and progression, which requires further characterization.
Case Report (n=13)
Highlights the clinical heterogeneity of nemaline myopathy and the risk of imminent respiratory failure even in initially weak infants.
Variable nemaline myopathy course warrants individualized prognostication; leaves open genotype-phenotype correlations for prospective studies.
The marked heterogeneity of nemaline myopathy is again shown in the present series of 13 patients. Most children have a long-standing, mild, and slowly progressing proximal myopathy. Two brothers with extreme weakness died during the neonatal period of respiratory failure representing the X-linked variant. One adult with proximal weakness was also diagnosed as having nemaline myopathy. An unusual course was observed in 2 infants who initially had moderate weakness but subsequently developed severe generalized weakness including respiratory muscles. This led to irreversible respiratory failure requiring continuous ventilatory support for as long as 9 and 15 years, respectively. Although uncommon, the possibility of an imminent respiratory failure in initially weak infants should also be taken into account within the clinical spectrum of nemaline myopathy.
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Shahar et al. (1988) conducted a case report in Nemaline myopathy (n=13). Nemaline myopathy was evaluated on Clinical course and respiratory failure. Nemaline myopathy exhibits marked clinical heterogeneity among 13 patients, ranging from mild proximal myopathy to severe generalized weakness and irreversible respiratory failure.
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