Congenital Myopathies

Congenital Myopathies

What are congenital myopathies?

The word myopathy means “disease of muscle.” More specifically, myopathies are diseases that cause problems with the tone and contraction of skeletal muscles (muscles that control voluntary movements.)

Congenital (present at birth) myopathies have a genetic basis, meaning they can be passed from parent to child.

What are the symptoms of congenital myopathies?

Congenital myopathies can cause severe, general muscle weakness that complicates basic activities like swallowing and breathing. Other congenital myopathies cause episodes of muscle weakness or stiffness (myotonia) that are milder and more temporary in nature.

For more, see the Types and Signs and Symptoms.

What causes congenital myopathies?

In the congenital myopathies, genetic mutations cause defects in various proteins necessary for muscle tone and contraction. See Causes/Inheritance.

What is the progression of congenital myopathies?

Myopathies usually don’t cause muscles to die; instead, they keep them from working properly. Myopathies are usually nonprogressive — that is, a myopathy usually doesn’t grow worse over a person’s lifetime. In fact, some children with myopathies gain strength as they grow older.

What is the status of research in congenital myopathies?

Scientists have made great strides in identifying the genetic mutations that are at the root of several congenital myopathies. Researchers are building on this knowledge to develop treatments and therapies for these diseases. See our stories on the Quest Blog.

For stories of families living with congenital myopathies, see our stories on Strongly, the MDA Blog, or see congenital myopathies stories on The Mighty.