Nemaline myopathy

Nemaline myopathy (also called "rod myopathy" or "nemaline rod myopathy") is a congenital, hereditary muscular disease typified by small rods evident in muscle cells. The disease is of varying severity. Victims usually suffer from delayed motor development, weakness among the arm, leg, trunk, throat, and face muscles. Life-expectancy can be threatened, most often due to respiratory weaknesses.

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Genetic qualities

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Autosomal dominant, autosomal recessive - the two forms do not appear to have any phenotypic differences. Mutations in both the alpha-actin gene and the nebulin gene have been found to be indicators of the disorder.

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