Nemaline myopathy

Jennifer Baccon MD PhD (Dr. Baccon of Penn State University has no relevant financial relationships to disclose.)
Harvey B Sarnat MD FRCPC MS, editor. (Dr. Sarnat of the University of Calgary has no relevant financial relationships to disclose.)
Originally released December 16, 1994; last updated November 24, 2016; expires November 24, 2019

This article includes discussion of nemaline myopathy, childhood onset nemaline myopathy, adult onset nemaline myopathy, infantile nemaline myopathy, and intranuclear nemaline myopathy. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

The full complement of known mutations that cause nemaline myopathy is presented. This review also highlights literature that discusses the cardiac manifestations of this disease.

Key points

 

• Nemaline myopathy is probably the most common of the congenital myopathies.

 

• Nemaline myopathy can present at any age with proximal muscle weakness, respiratory insufficiency, or bulbar dysfunction.

 

• Childhood forms of nemaline myopathy are caused by mutations in numerous genes encoding muscle thin filaments.

 

• Adult forms of nemaline myopathy can be more rapidly progressive and may be caused by immune dysregulation.

Historical note and terminology

Nemaline myopathy was first described in 1963 by investigators from the United States and Canada (Conen et al 1963; Shy et al 1963). Nemaline myopathy is defined by a particular ultrastructural change on muscle biopsy: the finding of thread-shaped structures in muscle fibers, which are known as nemaline bodies, or rods (from the Greek nema, meaning thread).

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