Congenital Myopathies

Also known as: congenital myopathies

What are congenital myopathies?

Myopathies are diseases that impact the muscles. A congenital myopathy is a muscle disease that is present at birth. They can take on many forms, but almost all of them include lack of muscle tone or muscle weakness.    

What causes congenital myopathies? 

Congenital myopathies are caused by genetic mutations. These are passed down from parents to their children.

What are the symptoms of congenital myopathies? 

Almost all congenital myopathies involve some form of muscle weakness of lack of muscle tone. These may be extremely severe and debilitating, or come in milder, more temporary episodes. 

How can congenital myopathies affect children?

Some congenital myopathies are present at birth. Others may not show symptoms until later in infancy or childhood. 

What are congenital myopathy care options? 

Physical therapy, occupational therapy, speech therapy, nutritional and respiratory support, orthopedic devices and medications can all help people live with the symptoms of congenital myopathies.

Reviewed by: Migvis Monduy, MD

This page was last updated on: September 09, 2020 11:29 AM

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