Consumer Information

Myotonic Dystrophy

WHAT YOU SHOULD KNOW:

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 may get very stiff when you use them. 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. The heart, eyes, brain, hair, and other organs may also be affected by MD.
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. With MD, you could develop cataracts, have heart problems, or have trouble swallowing and breathing. You may also have sleeping or thinking problems. There is no treatment for the weakness and wasting of the muscles, and there is no known cure for MD. You may have therapies, such as medicine and physical therapy to improve your quality of life.

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.

RISKS:

Untreated myotonic dystrophy may make the symptoms of other diseases worse. Myotonic dystrophy can lead to a condition called scoliosis, which is curving of the spine. Children born to people who have MD may also have the disease. Genetic counseling is important so that you and your family may learn about your disease.

WHILE YOU ARE HERE:

Informed consent: You have the right to understand your health condition in words that you know. You should be told what tests, treatments, or procedures may be done to treat your condition. Your doctor should also tell you about the risks and benefits of each treatment. You may be asked to sign a consent form that gives caregivers permission to do certain tests, treatments, or procedures. If you are unable to give your consent, someone who has permission can sign this form for you. A consent form is a legal piece of paper that tells exactly what will be done to you. Before giving your consent, make sure all your questions have been answered so that you understand what may happen.

Deep breathing: This exercise should be done once an hour to keep you from getting a lung infection. Deep breathing opens the tubes going to your lungs. Slowly take a deep breath and hold the breath as long as you can. Then let out your breath. Take 10 deep breaths in a row every hour while awake. You may be asked to use an incentive spirometer to help you with this. Put the plastic piece into your mouth and slowly take a breath as deep and as long as you can. Hold your breath as long as you can. Then, let out your breath.

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.

Heart monitor: This is also called an ECG, electrocardiogram, or telemetry. Sticky pads are placed on your chest or different parts of your body. Each pad has a wire leading to a small portable box (telemetry unit), or to a TV-type screen. This lets caregivers see a tracing of the electrical activity of your heart. The heart monitor may help caregivers see problems with the way your heart is beating. Do not remove any wires or sticky pads without asking your caregiver first.

Medicine: You may have any of the following:

Anti-myotonia medicine: This medicine decreases muscle stiffness.
Pain medicine: Caregivers may give you medicine to take away or decrease your pain. Medicine may be given regularly, or may only be given if you ask caregivers for it. Tell caregivers if your pain does not decrease enough for you to feel better. Do not wait to ask for your pain medicine until the pain is very bad. The medicine may not work as well at controlling your pain if you wait too long to take it. Ask your caregiver for help getting out of bed if you feel tired or dizzy.
Motility medicine: This medicine may be given to help stomach muscles move food and liquids out of your stomach faster. This may help you digest food better.

Tests: You may have one or more of the following:

Blood tests: You may need blood taken for tests. The blood can be taken from a blood vessel in your hand, arm, or the bend in your elbow. It is tested to see how your body is doing. It can give your caregivers more information about your health condition. You may need to have blood drawn more than once.
- Genetic test: This blood test gives information about your genes. It is used to learn if a certain disease is causing your problem.
Biopsy: Caregivers remove a small piece of tissue from your muscle that is sent to the lab for tests.
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.
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.
Pulmonary function tests: Pulmonary function tests, also called PFTs, help caregivers learn how well your lungs work. PFTs may also help your caregivers decide on the best treatment for you. During the tests, you breathe into a mouthpiece connected to a machine. The machine measures how much air you breathe in and out over a certain amount of time. This helps caregivers to see how well your lungs are moving and working.

Treatment options: You may need one or more of the following:

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.
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.

The above information is an educational aid only. It is not intended as medical advice for individual conditions or treatments. Talk to your doctor, nurse or pharmacist before following any medical regimen to see if it is safe and effective for you.

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