Adult-Onset Nemaline Myopaty

Abstract

Nemaline myopathy (NM) is o congenital myopathy characterised by the presence ofthread or rod-like bodies in muscle fıbers in the presence of typical clinical pictures. Onset is usually in infancy, but childhood and adult-onset cases have also been described. in this poper, three adult-onset patients who have characteristic clinical and histopathological abnormalities were presented. On light microscopy, muscle biopsy revealed sarcoplasmic and subsarcolemmal nemaline rods, type-1 fiber predominancy and myopathic changes. Autosomal recessive inheritance was suggested on the basis of the pedigree of two siblings. The third patient lacked the family history and was considered to be a sporadic NM. in NM, respiratory problems are common and cardiac involvement has alsa been reported. During the follow-up period of 4 years, although they were symptom free, cardiac involvement was detected in two siblings and respiratorycomplication was observed in one of them. Two siblings showed minimal improvement in muscle strength with o trial of 13-2 adrenergic agonist, however no benefit was observed in the third patient.