What is centronuclear myopathy?

Centronuclear myopathy is one of a number of myopathies or muscle disorders in which the cores of muscle cells are placed in the center of the cell instead of their normal placement on the outer edge of the cell. Centronuclear myopathy is a congenital disorder, which means that the problems or defects in the development of fetus that may or may not be a genetic nature. Although this is considered a congenital disorder, rare cases occur in people later in life. Genetic features of the disorder cause male infants to most often express themselves.

The two main symptoms of centronuclear myopathy are hypotonia and hypoxia. In hypotonia, the individual has a particularly low muscle tone, which tends to lead to lack of muscle strength. Hypoxia is a condition in which the individual's body receives insufficient oxygen supply. Another indicator of centronuclear myopathy is scaphocephaly, a condition in which it is born with a long, narrow head. Hypoxies the most serious of these symptoms because the death of infants sometimes canthat occur if assisted breathing fails.

The genetic abnormality that occurs on the x-chromosome is generally associated with centronuclear myopathy. The affected specific gene is referred to as MTM1; It is necessary for proper differentiation of muscle cells. Mutations in MTM1 are expected to cause muscle development problems. A strong correlation was indeed observed between cases of myopathy and MTM1 mutations.

myotubular myopathy is by far the most common form of centronuclear myopathy; Both terms are in fact almost interchangeable. Although it is the most common, even myotubular myopathy is incredibly rare. Electrodiagnostic testing, which includes a number of techniques used to measure electrical activity in the muscles, is commonly used in the diagnosis of centronuclear myopathy and in other forms of myopathy. Unfortunately, many infants die of myotubular myopathy before they can be dIagostate or to heal on a disorder.

To date, there is no known cure for centronuclear myopathy, although there are methods that allow those who have a disorder to work reasonably well. Physical therapy is generally used to teach people how to function independently and best. Otherwise, treatment is almost strictly symptomatic. For example, the lack of strength in the hull can lead to the curvature of the spine, so people with myopathies often need to seek back problems such as scoliosis.