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Muscular dystrophy

• Signs and Symptoms
• What Causes It?
• Who's Most At Risk?
• What to Expect at Your Provider's Office
• Treatment Options
• Prognosis/Possible Complications
• Following Up
• Supporting Research

Muscular dystrophy (MD) is a group of genetic diseases involving progressive weakness and degeneration of the muscles that control movement. In some forms of MD, the heart muscles and other involuntary muscles, as well as other organs, are also affected. There are nine distinct types of MD. Myotonic MD is the most common form among adults, while Duchenne MD is the most common form among children (it affects only boys). MD is an incurable, often fatal disease.

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 non-muscular 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 - 5 years of age. They include the following.

• Frequent falls
• Difficulty running, jumping, and getting up from a sitting or lying-down position
• Large calf muscles
• Weakness in the lower extremities
• Mild mental retardation

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.

Who's 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 or someone you take care of has symptoms of MD, you should see your health care provider. Diagnosis depends on sophisticated testing, such as lab tests, imaging, and other procedures.

Treatment Options

Treatment Plan

The goal of a treatment plan is to maintain the person's optimal physical and emotional health by preventing joint and spinal deformities. This prolongs the ability to walk for as long as possible. Assisted breathing is introduced as needed, and lifelong physiotherapy is necessary. Orthopedic devices may be needed for support. Hydrotherapy, such as continuous tub baths, may help maintain a full range of joint motion.

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

Surgical and Other Procedures

Surgery sometimes can help 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.

Nutrition and Supplements

Following these nutritional tips may help reduce symptoms:

• Try to eliminate potential food allergens, including dairy, wheat (gluten), corn, soy, preservatives, and food additives. Your health care provider may want to test for food sensitivities.
• Eat antioxidant foods, including fruits (such as blueberries, cherries, and tomatoes) and vegetables (such as kale, spinach, and bell pepper).
• Avoid refined foods such as white breads, pastas, and sugar.
• Eat fewer red meats and more lean meats, cold-water fish, tofu (soy, if no allergy) or beans for protein.
• Use healthy cooking oils, such as olive oil or vegetable 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 - 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 - 2 capsules or 1 tablespoonful oil one to two times a day, to help decrease inflammation and improve immunity. Cold-water fish, such as salmon or halibut, are good sources.
• 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 - 2 tablets daily, for support of muscle and skeletal weakness.
• Coenzyme Q10, 100 - 200 mg at bedtime, for antioxidant, immune, and muscular support.
• N-acetyl cysteine, 200 mg daily, for antioxidant effects.
• Acetyl-L-carnitine, 500 mg daily, for antioxidant and muscle protective activity.
• Probiotic supplement (containing Lactobacillus acidophilus ), 5 - 10 billion CFUs (colony forming units) a day, for maintenance of gastrointestinal and immune health. You should refrigerate your probiotic supplements for best results.
• Creatine, 5 - 7 grams daily, when needed for muscle weakness and wasting.
• L-theanine, 200 mg one to three times daily, for nervous system support.
• Melatonin, 2 - 5 mg before bed, when needed for sleep.

Herbs

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

• Green tea ( Camellia sinensis ) standardized extract, 250 - 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 - 600 mg daily, for antioxidant, antistress, and immune activity.

Homeopathy

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 -- your physical, emotional, and intellectual makeup. An experienced homeopath assesses all of these factors when determining the most appropriate remedy for a particular individual.

• 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

Massage

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 into their 40s or 50s. In most cases, individuals with MD die of infections, respiratory problems, or cardiac failure.

Following Up

MD patients annually undergo electrocardiography, pulmonary function studies, and chest radiographs, along with tests to monitor their swallowing function.

Supporting Research

Adams RD, et al. Principles of Neurology . 6 ^th ed. New York, NY: McGraw-Hill; 1997: 1414–1429.

Bartram T. Encyclopedia of Herbal Medicine . Dorset, England: Grace Publishers; 1995:301.

Berthillier G, Eichenberger D, Carrier HN, et al. Carnitine metabolism in early stages of Duchenne muscular dystrophy. Clin Chim Acta . 1982;122(3):369-75

Dorchies OM, Wagner S, Vuadens O, et al. Green tea extract and its major polyphenol (-)-epigallocatechin gallate improve muscle function in a mouse model for Duchenne muscular dystrophy. Am J Physiol Cell Physiol . 2006;290(2):C616-25.

Edstrom L. Dystrophia myotonica: clinical pathophysiological, and molecular aspects. Scand J Rehab Med Suppl . 1999; 39: 47–52.

Escolar DM, Buyse G, Henricson E, et al. CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy. Ann Neurol . 2005;58(1):151-5.

Fauci AS, et al. Harrison's Principles of Internal Medicine . 14 ^th ed. New York, NY: McGraw-Hill; 1998: 2473–2477.

Forst J, Forst R. Lower limb surgery in Duchenne muscular dystrophy. Neuromuscul Disord . December 9, 1999: 176–181.

Gaby AR. The role of coenzyme Q10 in clinical medicine: Part 1. Alt Med Rev . 1996; 1(1):11-17.

Gulcin I. Antioxidant and antiradical activities of L-carnitine. Life Sci . 2006;78(8):803-11.

Jonas WB, Jacobs J. Healing with Homeopathy: The Doctors' Guide. New York, NY: Warner Books; 1996: 261.

Kakulas BA. Problems and solutions in the rehabilitation of patients with progressive muscular dystrophy. Scand J Rehab Med Suppl . 1999; 39: 23-37.

Kormosh N, Laktionov K, Antoshechkina M. Effect of a combination of extract from several plants on cell-mediated and humoral immunity of patients with advanced ovarian cancer. Phytother Res . 2006;20(5):424-5.

Kroksmark A-K. Physiotherapy in muscular dystrophy. Scand J Rehab Med Suppl . 1999; 39: 65-68.

Leger P, Leger SS. Respiratory concerns in Duchenne muscular dystrophy. Pediatr Pulmonology. 1997; 16 (suppl): 137–139.

Motlagh B, MacDonald JR, Tarnoplosky MA. Nutritional inadequacy in adults with muscular dystrophy. Muscle Nerve . 2005;31(6):713-8.

[No authors listed]. L-theanine . Monograph. Altern Med Rev . 2005;10(2):136-8.

Perkin GD, Murray-Lyon I. Neurology and the gastrointestinal system. J Neurol Neurosurg Psychiatry . 1998;65(3):291-300.

Shen DG, Araki M, Higuchi I, et al. The effect of DDB on dystrophic hamsters: an in vivo and in vitro study. Muscle Nerve.1987;10(5):391-6.

Samuels MA, Feske S. Office Practice of Neurology . New York, NY: Churchill Livingstone; 1996; 577–587.

Simon RP, et al. Clinical Neurology . 4 ^th ed. Stamford, CT: Appleton & Langel; 1999: 189–192.

Stewart PM, Walser M, Drachman DB. Branched chain keto-acids reduce muscle protein degradation in Duchennes muscular dystrophy. Muscle Nerve . 1982; (3): 197-201.

Tarnopolsky M. Creatine Monohydrate increases strength in patients with neuromuscular disease. Neurology . 1999, (52): 854-857.

Toscano A, Messina S, Campo GM, et al. Oxidative stress in myotonic dystrophy type 1. Free Radic Res . 2005;39(7):771-6.

Ullman D. Homeopathic Medicine for Children and Infants. New York, NY: Penguin Putnam; 1992: 115, 217.

• Review Date: 8/6/2006
• Reviewed By: Ernest B. Hawkins, MS, BSPharm, RPh, Health Education Resources; and Steven D. Ehrlich, N.M.D., private practice specializing in complementary and alternative medicine, Phoenix, AZ. Review provided by VeriMed Healthcare Network.

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