Myotonic Dystrophy

GENERAL INFORMATION:

What is myotonic dystrophy? Myotonic dystrophy, or MD, is a genetic disease that affects the muscles. A genetic disease is one that you are born with and that you may have inherited from your family. With MD, muscles of the face, arms, hands, legs, or feet may get very stiff when they are used. These stiff muscles take a long time to relax and return to normal. This results in the muscles becoming weak, small, and to change shape. Myotonic dystrophy may also affect other parts of the body, such as your heart, eyes, brain, and stomach. MD can affect children, but usually starts in adult life. There is no cure for MD.

What causes myotonic dystrophy? Myotonic dystrophy is caused by problems with genes and chromosomes in the body. Genes are little pieces of information that tell your body what to do or what to make. Chromosomes are like packages that hold all the genes.

What are the signs and symptoms of myotonic dystrophy? The most common problem with myotonic dystrophy is muscle weakness of the hands, arms, face, legs, or foot. MD may also affect other systems of the body such as the following:

• Cardiovascular: Fast, pounding heartbeat, heartbeat that is not normal, or chest pain.
  
  
• Endocrine: Hair loss, high blood sugar, more tired than usual, and problems getting pregnant.
  
  
• Gastrointestinal: Trouble chewing, swallowing, or being constipated. Constipation is when your bowel movements (BMs) are hard, dry, and difficult to pass.
  
  
• Nervous: Problems thinking, reasoning, focusing, and remembering. You may also need more sleep than usual, or have slurred speech.
  
  
• Ophthalmological: Cataracts (cloudy vision of the eyes) or drooping eyelids.
  
  
• Respiratory: Trouble breathing.

How is myotonic dystrophy diagnosed? You may have any of the following tests:

• Biopsy: Caregivers remove a small piece of tissue from your muscle that is sent to the lab for tests.
  
  
• 12-lead ECG: This test, also called an EKG, helps caregivers look for damage or problems in different areas of the heart. Caregivers may need to prepare your skin by shaving off some hair, or cleaning it with a gritty lotion. Sticky pads are placed on your chest, arms, and legs. Each sticky pad has a wire that is hooked to a machine or TV-type screen. A short period of electrical activity in your heart muscle is recorded. Caregivers will look closely for certain problems or changes in how your heart is working. This test takes about 5 to 10 minutes. It is important that you lie as still as possible during the test. You may need this test more than once.
  
  
• Electromyography (EMG): Electromyography is a test that measures the electrical activity of your muscles. Your muscles are tested at rest and while you are using them. An EMG test may also check the nerves that control your muscles.
  
  
• Genetic test: This blood test gives information about your genes. It is used to learn if a certain disease is causing your problem.
  
  
• Magnetic resonance imaging: This test is also called an MRI. Pictures of your muscles are taken during this test. Caregivers use these pictures to look for changes in your muscles.

How is myotonic dystrophy treated? There is no treatment for the muscle weakness and wasting of MD Medicines may be given to decrease muscle stiffness, pain and other symptoms. You may have one or more of the following therapies:

• Medicine: Certain medicines may be used to treat muscle stiffness, pain, and problems relaxing your muscles.
  
  
• Braces: You may need to wear braces on your legs, wrists or neck. Braces will help to keep you in the right position. The braces will also give support so you will be more balanced and not fall when walking. Braces may help you to continue walking longer and delay the start of scoliosis. Scoliosis is when your spine bends in the wrong places. It happens because your muscles are not strong enough to hold the bones of your spine in place.
  
  
• Eating and swallowing: Your doctor may ask a swallowing therapist to work with you if you have trouble swallowing. This person has special training to help people learn safer ways to swallow. The swallowing therapist will also help you learn which foods and liquids are safe to eat and drink.
  
  
  • You may be fed by an IV or a nasogastric (NG) tube if your swallowing problems are very bad. An NG tube is put in through your nose and goes down into your stomach. The tube may also go directly from the outside of your body into your stomach. This is called a gastrostomy tube.
    
    
  • You may be given thickened liquids to drink because they may be easier for you to swallow. A special powder is used to thicken liquids. You may also be able to eat softer (mashed) foods. You may be able to eat what you usually eat when your swallowing gets better.
  
  
• Genetic counseling: You and your family will learn about genetic diseases. This information may help you and your family make important decisions, such as planning a family.
  
  
• Occupational therapy: Occupational therapy (OT) uses work, self-care, and play activities to help you in your daily life. OT teaches special skills for bathing, dressing, cooking, eating, or driving. An occupational therapist may help you choose tools to use, and suggest ways to keep your home or workplace safe. You and your therapist will plan a therapy program that is right for you.
  
  
• Physical therapy: A physical therapist helps you with special exercises. These exercises help make your bones and muscles stronger.

Where can I find support and more information? Myotonic dystrophy is a life-changing disease for you and your family. Accepting that you or a family member has MD may be hard. You and those close to you may feel angry, sad, or frightened. These are normal feelings. Talk to your caregivers, family, or friends about your feelings. You may also want to join a MD support group. This is a group of people who have myotonic dystrophy or a similar disease. Contact the following for more information:

• Muscular Dystropy Association
  3300 E. Sunrise Drive
  Tucson, AZ 85718
  Phone: 1-800-344-4863
  Web Address: http://www.mdausa.org
  

• National Society of Genetic Counselors
  401 N. Michigan Ave.
  Chicago, IL 60611
  Phone: 1-312-321-6834
  Web Address: www.nsgc.org
  

CARE AGREEMENT:

You have the right to help plan your care. To help with this plan, you must learn about your health condition and how it may be treated. You can then discuss treatment options with your caregivers. Work with them to decide what care may be used to treat you. You always have the right to refuse treatment.

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