Myotonia congenita (patient information)

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What is Myotonia congenita?

Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth.

What are the symptoms of Myotonia congenita?

The hallmark of this condition is the myotonia -- the inability of the muscle to quickly relax after contracting. For example, after a handshake, the person is only very slowly able to open and pull away his hand.

Early symptoms may include:

Children with myotonia congenita often appear to be muscular and well-developed. The child may not have symptoms of myotonia congenita until age 2 or 3.

What causes Myotonia congenita?

Myotonia congenita is caused by a change (mutation) to a gene. It is passed down from either one or both parents to the children (inherited).

Myotonia congenita is believed to be caused by a problem in the part of the muscle cells that are needed for muscles to relax. Abnormal repeated electrical discharges occur in the muscles, causing a stiffness called myotonia.

Who is at risk for Myotonia congenita?

People with a family history of myotonia congenita are at risk, as the condition is genetic.

How do I know I have Myotonia congenita?

The doctor may ask if there is a family history of myotonia congenita.

Tests include:

When to seek urgent medical care

Call your health care provider if your child has symptoms of myotonia congenita.

Treatment options

Treatment for symptoms includes:

Where to find medical care for Myotonia congenita

Directions to Hospitals Treating Myotonia congenita

What to expect (Outlook/Prognosis)

People can do well with this condition. Symptoms only occur when a movement is first started. After a few repetitions, the muscle relaxes and the movement becomes normal. Symptoms may improve later in life.

Possible complications

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/001424.htm

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