Centronuclear Myopathy - Incidence

Incidence

The overall incidence of myotubular myopathy is 1 in 50,000 male live births. The incidence of other centronuclear myopathies is unknown, but they are far less common than more well-known muscle disorders like Duchenne's muscular dystrophy. Approximately 80% of males with a diagnosis of myotubular myopathy by muscle biopsy will have a mutation in MTM1 identifiable by genetic sequence analysis.

Many patients with myotubular myopathy die in infancy prior to receiving a formal diagnosis. When possible, muscle biopsy and genetic testing may still be helpful even after a neonatal death, since the diagnostic information can assist with family planning and genetic counseling, as well as aiding in the accurate diagnosis of any relatives who might also have the same genetic abnormality.

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