Signs and Symptoms

Myotonic muscular dystrophy (which affects adults) is accompanied by the following signs and symptoms:

• Delayed muscle relaxation after contraction
• Impaired nourishment of nonmuscular tissue
• Weaknesses in the facial muscles, arms and legs, and muscles affecting speech and swallowing
• Baldness in men and women
• Intellectual impairment
• Respiratory problems
• Heart abnormalities in early adulthood

Although Duchenne MD is present at birth, signs and symptoms do not usually appear until the child is 3 to 5 years of age. They include:

• Delayed motor movements
• Frequent falls
• Difficulty running, jumping, and getting up from a sitting or lying down position
• Large calf muscles
• Weakness in the lower extremities
• Cognitive impairment
• Cardiac impairment

Breathing difficulties and a chronic disorder of heart muscles develop during adolescence, usually after the individual becomes wheelchair bound.

What Causes It?

MD is caused by gene mutations that are particular to each form of the disease. It is an X-linked disease, meaning mothers are the carriers of the disease.

Who is Most At Risk?

In two thirds of cases of MD, the person has a family history. In one third of cases, there is no family history.

What to Expect at Your Provider's Office

If you have symptoms of MD, you should see your health care provider. Diagnosis depends on sophisticated testing, such as:

• Lab tests
• Imaging
• Muscle biopsy
• Other procedures

Treatment Options

Treatment Plan

The goal of treatment is to maintain the person's optimal physical and emotional health by preventing joint and spinal deformities. This prolongs the ability to walk. Doctors may introduce assisted breathing as needed, and lifelong physiotherapy is necessary. You may need orthopedic devices may be needed for support. Hydrotherapy, such as continuous tub baths, may help maintain a full range of joint motion. Physical, occupational, respiratory, and speech therapy may also help patients manage the symptoms of MD. Some clinicians recommend submaximum aerobic exercise, especially in the early course of the disease.

Drug Therapies

Your health care provider may prescribe the following medications:

• Phenytoin, quinine, and procainamide, for delayed muscle relaxation in myotonic MD
• Prednisone, to improve muscle strength in Duchenne MD

Some people may experience behavioral issues, such as hyperactivity, for a few hours after medication is given.

Surgical and Other Procedures

Surgery can help some people who have MD.

• Spinal surgery to correct scoliosis (curvature of the spine)
• Tenotomy to release contractures (painful positioning of the joints) of the hips, knees, and Achilles tendon, which is near the back of the foot.

Complementary and Alternative Therapies

A comprehensive treatment plan for MD may include a range of complementary and alternative therapies.

These nutritional tips may help reduce symptoms:

• Try to eliminate potential food allergens, including dairy, wheat (gluten), corn, soy, preservatives, and food additives. Your provider may want to test for food sensitivities.
• Eat antioxidant foods, including fruits (blueberries, cherries, and tomatoes) and vegetables (kale, spinach, and bell pepper).
• Avoid refined foods, such as white breads, pastas, and sugar.
• Use healthy oils in foods, such as olive oil or coconut oil.
• Reduce or eliminate trans fatty acids, found in such commercially-baked goods as cookies, crackers, cakes, French fries, onion rings, donuts, processed foods, and margarine.
• Avoid coffee and other stimulants, alcohol, and tobacco.
• Drink 6 to 8 glasses of filtered water daily.
• Exercise lightly, if possible, 5 days a week.

You may address nutritional deficiencies with the following supplements:

• Omega-3 fatty acids: such as fish oil, 1 to 2 capsules or 1 tbsp of oil, 1 to 2 times a day, to help reduce inflammation and improve immunity. Fish oils may increase bleeding in sensitive individuals, such as those taking blood-thinning medications (including aspirin).
• A multivitamin daily: containing the antioxidant vitamins A, C, E, the B-vitamins and trace minerals, such as magnesium, calcium, zinc, and selenium.
• Calcium and vitamin D supplement: 1 to 2 tablets daily, for support of muscle and skeletal weakness.
• Coenzyme Q10: 100 to 200 mg at bedtime, for antioxidant, immune, and muscular support. Coenzyme Q10 may slightly promote clotting so it may interfere with blood-thinning medications, such as warfarin (Coumadin), and aspirin, among others.
• N-acetyl cysteine: 200 mg daily, for antioxidant effects.
• Acetyl-L-carnitine: 500 mg daily, for antioxidant and muscle protective activity. There is some concern that acetyl-L-carnitine may interfere with thyroid hormone, and that it may not be appropriate for people who have a history of seizures. Speak to your doctor. Acetyl-l-carnitine may increase the effects of blood-thinning medications, such as warfarin (Coumadin), aspirin, and others.
• Amino acids: including glutamine and arginine for muscle protection.
• Probiotic supplement (containing Lactobacillus acidophilus): 5 to 10 billion CFUs (colony forming units) a day, for maintenance of gastrointestinal and immune health. Some probiotic supplements may need refrigeration. Check the label carefully. If you have a suppressed, or severely compromised, immune system, speak with your doctor before taking probiotics.
• Creatine: when needed for muscle weakness and wasting. Certain kidney drugs may interact with creatine. Speak to your doctor to make sure your kidneys are healthy enough to handle supplemental creatine, and to determine the appropriate amount of creatine. Your doctor may want to periodically monitor kidney function.
• L-theanine: 200 mg, 1 to 3 times daily, for nervous system support.

Herbs are one way to strengthen and tone the body's systems. As with any therapy, you should consult your provider before starting any treatment. You may use herbs as dried extracts (capsules, powders, teas), glycerites (glycerine extracts), or tinctures (alcohol extracts). Unless otherwise indicated, make teas with 1 tsp. herb per cup of hot water. Steep covered 5 to 10 minutes for leaf or flowers, and 10 to 20 minutes for roots. Drink 2 to 4 cups per day. You may use tinctures alone or in combination as noted.

• Green tea (Camellia sinensis) standardized extract: 250 to 500 mg daily, for antioxidant and immune effects. Use caffeine-free products. You may also prepare teas from the leaf of this herb.
• Rhodiola (Rhodiola rosea) standardized extract: 100 to 600 mg daily, for antioxidant, antistress, and immune activity.

Few studies have examined the effectiveness of specific homeopathic remedies. A professional homeopath, however, may recommend one or more of the following treatments for muscular dystrophy based on his or her knowledge and clinical experience. Before prescribing a remedy, homeopaths take into account a person's constitutional type, includes your physical, emotional, and intellectual makeup. An experienced homeopath assesses all of these factors when determining the most appropriate remedy for a particular individual. Remedies include:

• Arnica: for relief from muscle pain or spasm
• Calcarea carbonica: for cramps of the lower extremities, particularly in those who are overweight and easily chilled
• Magnesia phos: for muscle pain and spasm with cramps and severe, shooting pain

Regular massage is important for reducing spasm and muscle contractions.

Prognosis/Possible Complications

The outlook for people with MD varies, depending on the type and severity of the disease. In mild cases, the disease may progress slowly, and the person may have a normal lifespan. In more severe cases, there is a more marked progression of muscle weakness, functional disability, and loss of ability to get around. Duchenne MD patients usually live into their 20s, and myotonic MD patients usually live longer. In most cases, individuals with MD die of:

• Infections
• Respiratory problems
• Cardiac failure

Following Up

People with MD undergo:

• Electrocardiography
• Pulmonary function studies
• Chest radiographs annually

along with tests to monitor their swallowing function.

Supporting Research

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