Congenital myopathies are rare muscle condition that are present at birth and result from genetic defects. Congenital myopathies are of several types but the most of them common features, including lack of muscle tone and weakness.
An infant suffering from congenital myopathy will have problem breathing or feeding and will lag behind other children. They will not be able to meet achieve their developmental milestones like turning over or sitting up.
The weakness in muscle can occur due to many reasons including problem with the muscle, a problem with the nerve that can stimulate the muscle or a problem with the brain.
As of now, only one of the types of congenital myopathies has an effective treatment. Other than central core disease no known cures for any of the other types have been found. Supportive treatment may include orthopedic treatment, and physical, occupational and speech therapy.
If an infant experiences severe breathing problems, particularly if there is also a problem with feeding and swallowing, infants may die of respiratory failure or complications like pneumonia. At time the muscle weakness can lead to skeletal problems like scoliosis, reduced mobility of joints or hip problems. The heart muscles are rarely affected.
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