Muscular Dystrophy

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, with myotonic the most common form among adults and Duchenne 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 to 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 is experiencing symptoms associated with 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, which 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 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
Follow an anti-inflammatory diet, including organic whole foods such as whole grains, vegetables, fruit, legumes, sea vegetables, and essential fatty acids (nuts, seeds, and cold-water fish). Avoid refined foods, saturated fats (dairy and other animal products), and all known food allergens.

Potentially beneficial nutrient supplements include the following.

Essential fatty acids (for example, flax, borage, evening primrose, cod liver) 1,000 to 1,500 mg two to three times per day
Vitamin E (400 to 800 IU per day), selenium (100 to 200 mcg per day), coenzyme Q10 (100 mg one to three times per day)
L-carnitine (320 mg one to two times per day)
B-complex vitamins, especially B12 (1,000 mcg per day) and B6 (100 mg per day), and minerals, such as calcium (1,000 mg per day), magnesium (500 mg per day), and potassium (100 mg per day)
N-acetyl cysteine (500 mg twice a day)
Creatine (5 to 7 g per day)

Herbs
Herbal remedies may offer relief from symptoms. Herbs are generally available as dried extracts (pills, capsules, or tablets), teas, or tinctures (alcohol extraction, unless otherwise noted). Dose for teas is 1 heaping tsp. per cup of water steeped for 10 minutes (roots need 20 minutes).

Combine three of the following herbs in equal parts and add two to three others as needed:

Mineral-rich herbs: horsetail (Equisetum arvense), nettles (Urtica dioica), oatstraw (Avena sativa), and kelp (Laminaria cloustonii)
With spasm, add black cohosh (Cimicifuga racemosa), cramp bark (Viburnum opulus)
With muscle pain, add Jamaica dogwood (Piscidia erythrina), meadowsweet (Filipendula ulmaria)
If the heart is affected, add hawthorn (Crataegus monogyna), rosemary (Rosemarinus officinalis)

Homeopathy
There have been few studies examining 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. In homeopathic terms, a person's constitution is his or her 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, while 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 twenties, and myotonic MD patients usually live into their forties or fifties. 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.

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