Definition

What is Paramyotonia congenita?

Paramyotonia congenita (PMC) is a condition that affects the muscles. It usually begins in infancy or early childhood. The condition is also called Eulenburg disease or periodic paralysis. It can cause temporary episodes of being paralyzed.

How common is Paramyotonia congenita?

This Paramyotonia congenita is uncommon. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Paramyotonia congenita?

The primary symptoms are stiffness and weakness in the muscles, especially in the face, neck, arms, and hands. Episodes of muscle stiffness can last anywhere from a few minutes to several hours. Some people experience pain with the muscle stiffness, but others don’t. During episodes, movements may feel sluggish, or it may be difficult to do simple things like letting go of a glass.

PMC can also cause complete temporary paralysis. If you overexert your muscles, such as through exercise, they can quickly become very fatigued and completely paralyzed. Cold air can exacerbate the condition, but the weakness and stiffness can occur even in warm conditions.

PMC usually starts during infancy. A baby with PMC displays signs of clenched muscles that they can’t relax. Muscle weakness, on the other hand, usually begins during adolescence. PMC isn’t progressive, meaning it doesn’t get worse as you get older. Usually, people with PMC don’t have any muscle deterioration.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your child has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Paramyotonia congenita?

PMC is caused by a defect in the way that the muscle fibers in your body are activated. Normally, in order for a muscle to be activated, the body uses a sodium channel to activate a muscle. This is called muscle excitement. With PMC, a genetic mutation causes the sodium channel to remain open longer than necessary. That causes the muscle to become overexcited and unable to relax, which can lead to muscle stiffness. If the muscle contraction is prolonged, it may lead to weakness or even temporary paralysis.

PMC can be caused by a defective gene in one parent. If you have the condition, it most likely means that one of your parents also has the condition. However, PMC can sometimes happen randomly too, just like any other type of birth defect.

If you have PMC, it doesn’t necessarily mean that your child will have the condition. There is a 50 percent chance you could pass it on, because it only requires a defective gene from one parent, not both. If the gene is passed on, the severity of the condition can vary. Talk to a genetic specialist if you’re concerned about passing this condition on to a child.

Risk factors

What increases my risk for Paramyotonia congenita?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Paramyotonia congenita diagnosed?

PMC is an “invisible” illness, meaning you won’t look sick. In fact, you may even look athletic because of your overexcited muscles. PMC is diagnosed through an electromyographic (EMG) examination. This test uses needles to record the electrical signals that your muscles send out during activation and use. The test cools the muscle down to bring on the condition.

It can be difficult to reach a diagnosis of PMC. You may need to work with your doctor to rule out other conditions before being diagnosed with PMC.

How is Paramyotonia congenita treated?

There’s no cure for PMC. Treatment of the condition is usually managed by many different health experts, including a physical therapist and a primary care provider. You also need to look for any triggers and learn the signs that an episode of paralysis is about to happen.

Some medications may help manage symptoms of PMC, such as:

  • Mexilentine (mexitil), which is a sodium-channel blocker
  • Paroxetine (paxil, pexeva), which is a selective serotonin reuptake inhibitor

You may also need special accommodations, such as a handicapped parking permit so you don’t have to walk long distances.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Paramyotonia congenita?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 6, 2018 | Last Modified: February 6, 2018

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