Centronuclear myopathy is a rare congenital muscle disorder where muscle cell nuclei are located in the center of the cell. It is often genetic and more common in newborn boys. Symptoms include low muscle tone, lack of muscle strength, and inadequate oxygen supply. It is usually caused by mutations in the MTM1 gene. There is no known cure, but physical therapy can help manage symptoms.
A centronuclear myopathy is one of several myopathies, or muscle disorders, in which the nuclei of muscle cells are located in the center of the cell instead of in their normal position at the outer edge of the cell. Centronuclear myopathy is a congenital disorder, which means that it results from problems or defects in fetal development that may or may not be genetic in nature. Although considered a congenital disorder, rare cases appear in people later in life. Genetic traits of the disease mean that it is more commonly expressed in newborn boys.
The two main symptoms of centronuclear myopathy are hypotonia and hypoxia. In hypotonia, an individual has particularly low muscle tone which tends to lead to a lack of muscle strength. Hypoxia is a condition in which an individual’s body receives an inadequate supply of oxygen. Another indicator of centronuclear myopathy is scaphocephaly, a condition in which you are born with a long, narrow head. Hypoxia is the most serious of these symptoms as infant death can sometimes occur if breathing assistance is not given in time.
A genetic abnormality occurring on the X chromosome is usually associated with centronuclear myopathy. The specific gene affected is referred to as MTM1; it is necessary for the correct differentiation of muscle cells. Mutations in MTM1 are thought to cause problems with muscle development. Indeed, a strong correlation was observed between cases of myopathy and MTM1 mutations.
Myotubular myopathy is by far the most common form of centronuclear myopathy; the two terms, in fact, are almost interchangeable. While it is the most common, myotubular myopathy is also incredibly rare. Electrodiagnostic testing, which involves a series of techniques used to measure the electrical activity of nerves in muscles, is commonly used in the diagnosis of centronuclear myopathy and other forms of myopathy. Unfortunately, many children die of myotubular myopathy before they can be diagnosed or treated for the disorder.
To date, there is no known cure for centronuclear myopathy, although there are methods that allow those affected to function reasonably well. Physical therapy is generally used to teach people how to function on their own as best as possible. Otherwise, treatment is almost strictly symptomatic. Lack of strength in the torso, for example, can lead to curvature of the spine, so people with myopathies often need to seek treatment for back problems such as scoliosis.
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