Intranuclear rods in nemaline rod myopathy may increase with time but do not necessarily imply a poor prognosis.
Intranuclear rods may accumulate without clinical decline in ACTA1 nemaline myopathy; this case leaves open generalizability to prognosis.
The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for alpha-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis.
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Kaimaktchiev et al. (2006) studied this question.
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