Overview

Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary myopathy with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech.

Consider MHS if RYR1 or unknown genotype. Nemaline rod myopathy is rarely associated with RYR1.

Pathophysiology

Nemaline bodies (rod-shaped structures) are present in muscle fibers

There are 6 different subtypes

Occasionally there are mutations in RYR1 associated with nemaline bodies.

Impacts on anaesthesia

Risk of malignant hyperthermia

Expert opinion "Some patients exhibit the histological feature of cores and rods in the same muscle biopsy. Based on reports in the literature, it may be hypothesized that in these patients' nemaline (like) bodies may be a secondary feature of central core disease and that the central core disease itself may represent the major risk factor for MH reactions... we suggest managing these patients as we describe with central core disease" [Klingler et al, 2009].

Difficult orotracheal intubation

Expert opinion In cases with associated facial dysmorphism [Klingler et al, 2009].