Nemaline myopathy

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Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary neuromuscular disorder that causes muscle weakness, generally nonprogressive, of varying severity.

“Myopathy” means “muscle disease,” and a biopsy of muscle from a person with nemaline myopathy shows abnormal thread-like rods, called nemaline bodies, in the muscle cells. People with nemaline myopathy (or NM) usually experience delayed motor development and weakness in the arm, leg, trunk, throat, and face muscles.

The disorder is often clinically categorized into several groups, including mild (typical), intermediate, severe, and adult-onset; however, these distinctions are somewhat ambiguous, as the categories frequently overlap. Respiratory problems are a primary concern for people with all forms of NM, and though in some severe cases they may threaten life expectancy, aggressive and proactive care allows most individuals to survive and lead active lives.

Nemaline myopathy is one of forty neuromuscular diseases covered by the Muscular Dystrophy Association.

Nemaline myopathy is a clinically and genetically heterogeneous disorder. Both autosomal dominant and autosomal recessive forms occur. Genetic mutations found to be responsible for the disorder include the alpha-actin gene, the nebulin gene, tropomyosin 2 gene, tropomyosin 3 gene, and troponin T. The physical capabilities of a given person with NM do not correlate well either with genotype or with muscle pathology as observed in the biopsy. [1]

“Rod myopathy” was first identified by Dr. Douglas Reye, an Australian physician, in 1958. However, Reye’s results were never published because another doctor dismissed his finding of rods in the muscle tissue as an artifact of the biopsy. Forty years later, Reye’s “rod myopathy” patient was confirmed to have nemaline myopathy. Another group of Australian researchers has since published an article recognizing Reye for his work. [2]

“Nemaline myopathy” was first named in a published paper in 1963 by North American researchers Cohen and Shy. Today, laboratories performing research on NM are located in the United States (Boston), Finland, and Australia.

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