title: Adult-onset nemaline myopathy: a case report and review of the literature.
abstract: Nemaline (rod) myopathy is a congenital muscle disease with a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. An adult-onset variant is characterized by large numbers of rod-containing myofibers, numerous rods per affected myofiber, and the absence of specific structural abnormalities typical of other muscle diseases. Few cases fulfilling these criteria have been described in the literature. Rare cases have had an associated inflammatory component, and the majority of these have occurred in patients with an underlying immunologic disorder. We present an unusual case of an immunologically competent 65-year-old man with late-onset nemaline myopathy, who was previously diagnosed with an inflammatory myopathy based on a muscle biopsy that contained chronic inflammation. His symptoms consisted of a 2-year history of progressive proximal muscle weakness; his family history was unremarkable. A neurologic examination confirmed the presence of bilateral proximal muscle weakness, normal sensation, and decreased upper and lower extremity reflexes. Creatine kinase levels were normal, and electromyographic findings indicated a myopathic process. A modified trichrome stain of the right biceps muscle revealed granular, basophilic, centrally located rods in the atrophic myofibers. Ultrastructurally, these myofibers contained osmiophilic rectangular structures with a latticelike appearance typical of nemaline myopathy. This case illustrates that adult-onset nemaline myopathy, although rare, should be considered in the differential diagnosis of an inflammatory myopathy.
authors.affiliation: Department of Anatomic Pathology, Cleveland Clinic Foundation, OH 44195, USA.
authors.forename: K A
authors.initials: KA
authors.lastname: Gyure
authors.forename: R A
authors.initials: RA
authors.lastname: Prayson
authors.forename: M L
authors.initials: ML
authors.lastname: Estes
mesh_terms: D000367:Age Factors; D000368:Aged; D001284:Atrophy; D006801:Humans; D007249:Inflammation / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D017696:Myopathies, Nemaline / Q000473:pathology*