Miopatia nitkowata u niemowlęcia - opis przypadku

Nemaline myopathy is usually a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. Mutations of these genes cause synthesis of abnormal thin filament proteins, which aggregate and form characteristic rods. At the histological level, the nemaline bodies are variable in size, number, and location. A common secondary characterising change is alteration of fiber-type proportions, with type 1 fiber predominance. The disease is characterised by great heterogeneity at the clinical, histopathological, and genetic level. Its main symptoms are: muscle weakness and hypotonia, affecting mostly the proximal muscles, with frequent involvement of facial and respiratory muscles. The clinical presentation can range from death in utero, to mild adult onset, with slowly progressive forms being the most common. We report a case of nemaline myopathy in an infant with a muscle weakness phenotype.