Myotonia congenita Health Article

Definition

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

Alternative Names

Thomsen's disease

Causes, incidence, and risk factors

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.

Symptoms

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:

• Difficulty in swallowing
• Gagging
• Stiff movements that improve when they are repeated

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.

Signs and tests

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

Tests include:

• Muscle biopsy
• Test of the electrical activity in muscles (EMG)

Treatment

Treatment for symptoms includes:

• Mexiletine
• Phenytoin
• Procainamide

Expectations (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.

Complications

• Aspiration pneumonia caused by swallowing difficulties
• Frequent choking, gagging, or difficulty swallowing in an infant
• Abdominal muscle weakness
• Chronic joint problems

Calling your health care provider

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

Prevention

Genetic counseling may be of interest to couples who want to have children and have a family history of myotonia congenita.

References

Barohn RJ. Mucle Diseases. Goldman L, Ausiello D, eds. Cecil Textbook of Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 447.