ABSTRACT

Nemaline myopathy is a rare hereditary neuromuscular disease characterized by variable degree of non-progressive or slowly progressive generalized muscle weakness. Clinical features are mostly related with muscle weakness and hypotonia. Patients may present with birth asphyxia as a result of severe hypotonia. Respiratory insufficiency and feeding difficulty develop eventually in the majority of cases. Narrow and elongated face, high arched palate, pectus excavatum, scoliosis, foot deformi-ties, and joint contractures may also be present. Definite diagnosis of Nemaline myopathy is possible by a muscle biopsy in which modified Gomori-trichrome stain indicates the presence of purple-red colored rod-like structures called “nemaline bodies” in the muscle fibers. Here a newborn who pre-sented with birth asphyxia and diagnosed as nemaline myopathy with muscle biopsy is reported and discussed in the light of literature.

Keywords: Asphyxia, Hypotonia, Nemaline Myopathy, Newborn