P.157L-tyrosine in nemaline myopathy – what do we know?

Nemaline myopathy (NEM) is one of the most prevalent congenital-onset myopathies, characterized by typical rod-like protein accumulations in skeletal myofibers. It has been shown that the there is a wide spectrum of disease severity, ranging from prenatal or neonatal onset with early death in infancy due to respiratory failure, infantile onset with profound weakness, to adult onset with only mild weakness. Different mutations in more than 10 genes cause NEM, suggesting genetic heterogeneity. Thus, conducting clinical trials is challenging. Currently, clinical management in NEM consists of supportive treatments directed towards the specific clinical symptoms of affected individuals. Due to several case reports that suggest beneficial effects of dietary L-tyrosine supplementation, self-administration is common though lack of evidence. Here, we report on four patients with congenital NEM and their self-reported effects of dietary supplementation with L-Tyrosine and motor scores as far as available. In addition, we summarize past and current literature to review frequent practices of dietary supplementation with L-tyrosine.