What is Congenital Myopathy?

Jacob Queen
Jacob Queen

Congenital myopathy is a blanket term primarily used to describe a large variety of inherited disorders that lead to muscle weakness. These disorders are generally present at birth, and they often cause an overall weakness that can result in difficulty feeding along with a slower development rate on tasks involving the use of muscles, such as walking, crawling or sitting up. Sometimes these problems can continue into the later parts of childhood and slow down the rate of motor development. As children get older, they may have problems with basic physical activities, like running or climbing things.

In general, congenital myopathy could be described as rare. In most cases, patients born with the disease have at least one parent who also suffered from it, although some forms can only be inherited if both parents had it. Sometimes people can have defective genes related to congenital myopathy and pass them on without actually having any symptoms themselves—other forms can only be passed on by individuals who posses the problematic genes, but don't actually have the disorder. People in this situation are sometimes described as carriers. For some versions of the congenital myopathy, men have a slightly greater chance of inheriting it, but in most cases, men and women have an equal level of overall risk.

If a doctor suspects congenital myopathy, they will generally put a child through an extensive series of tests. First, the doctors have to confirm that it’s not some other muscular disorder and, after that, they will generally perform more tests to identify the specific form of congenital myopathy they’re dealing with. There are many varieties of the disorder, but four are generally more common than others. They are nemaline myopathy, myotubular myopathy, congenital fiber type disproportion and the core myopathies. Nemaline myopathy is the most common, and myotubular myopathy is one of the most deadly.

Treatment options can be highly variable. Some children only need physical therapy, while others may have to spend a period of time on life support. In some cases, surgery can even be required, along with braces or wheelchairs. Most versions of congenital myopathy aren’t particularly deadly, but sometimes the symptoms can follow people all the way into adulthood and greatly affect their quality of life. Exercise can be very helpful for people suffering with certain forms of the disease because it allows patients to compensate for the weakened state of their muscles.

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