Managing Muscular Dystrophy

You notice that your son has been having trouble sitting up. He complains that his muscles ache. He has been walking on his toes as well. Could he have muscular dystrophy?

Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes interfere with the production of protein needed to form healthy muscle.

There are many kinds of muscular dystrophy. Symptoms of the most common variety begins in childhood, mostly in boys. Other types aren’t symptomatic until adulthood.

According to the Mayo Clinic, the main sign of this condition is progressive muscle weakness. Specific signs and symptoms can begin at different ages and in different muscle groups depending on what type of muscular dystrophy you have.

Duchenne muscular dystrophy is the most common type of muscular dystrophy. Though girls are carriers and are mildly affected, boys are far more affected.

Some signs and symptoms which typically appear in early childhood, might include:

·       Difficulty rising from a sitting or lying position

·       Trouble running and jumping

·       Frequent falling

·       Waddling gait

·       Walking on toes

·       Large calf muscles

·       Muscle pain and stiffness

·       Learning disabilities

·       Delayed growth

Becker muscular dystrophy is similar to Duchenne, but signs and symptoms tend to be milder and progress at a slower pace. Symptoms begin in the teens but might not occur until the mid-20s or later.

Other types of muscular dystrophy focus on specific body feature and where the symptoms begin. In Myotonic muscular dystrophy, facial and neck muscles are the first to be affected. People with this form usually have long, thin faces, drooping eyelids, and swanlike necks.

In Facioscapulohumeral (FSHD) muscle weakness begins in the face, hip, and shoulders. The shoulders stick out like wings when the arms are extended. The condition usually begins in the teen years but can occur during childhood or as late as age 50.

In Congenital, this type affects boys and girls and is evident at birth or before age 2. Some forms of this condition progress slowly and there is only minor disability. Other forms progress quickly and have serious impairment.

In Limb-girdle, hip and shoulder muscles are affected first. People with this condition may have difficulty in lifting the front part of the foot so the person may stumble. The condition may begin in childhood or teen years.

Muscular dystrophy occurs when one of the genes used to make protein that protect the muscle fibers is defective. Each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Most of these mutations are inherited.

Some complications that may occur are:

·       Trouble walking. Some people with muscular dystrophy may need to rely on a wheelchair.

·       Trouble using arms. Daily activities can be that much harder if the muscles in the arms and shoulders are affected.

·       Shortening of muscles and tendons around the joints (contractures). Contractures further limit mobility.

·       Breathing problems. Progressive weakness can affect the muscles associated with breathing. People with muscular dystrophy may need to use a breathing assistance device (ventilator), initially at night but possibly also in the day.

·       Curved spine (scoliosis). Weakened muscles might be unable to hold the spine straight.

·       Heart problems. Muscular dystrophy can reduce the efficiency of the heart muscle.

·       Swallowing problems. If the muscles involved with swallowing are affected, nutrition and aspiration and pneumonia can follow.

To diagnose muscular dystrophy, your doctor will begin with a complete medical history and a physical. Then your doctor may run additional tests like enzyme tests. Damaged muscles release enzymes such as creatine kinase (CK) into your blood. In a person who hasn’t had a serious injury, high CK levels suggest a muscles disease.

Genetic testing will need to done where blood samples can be examined for mutations in some of the genes that cause certain types of muscular dystrophy. Muscle biopsy where a small piece of muscle can be removed through an incision or a hollow needle needs to be done to analyze the tissue for muscular dystrophy versus other muscle diseases.

Heart-monitoring tests are used to check heart function, especially in people diagnosed with myotonic muscular dystrophy. Lung-monitoring tests check lung function. An electromyography test is when an electrode needle is inserted into the muscle to be tested. Electrical activity is measured as you relax and tighten the muscle. Changes in the electrical pattern indicates a muscle disease.

Treatment for muscular dystrophy includes medication, physical and occupational therapy and surgery and other procedures. Analysis of walking, swallowing, breathing and hand function allows your doctors to make adjustments to treatments as the disease progresses.

Physical and occupational therapy strengthen and stretch muscles. Speech therapy helps those that have trouble swallowing. Corticosteroids like prednisone and deflazacort may slow disease progression. Surgery relieves tension on contracted muscles and corrects spine curvature. Heart assist devices like pacemakers treat heart rhythm problems and heart failure. Medical devices such as walkers and wheelchairs can improve mobility and prevent falls. Respiratory care, such as cough-assist devices and respirators aid breathing.

Unfortunately, there isn’t anything you can do to prevent muscular dystrophy. But there are some things you can do to have a better quality of life, even with the disease. Eat a healthy diet to prevent malnutrition. Drink lots of water to prevent dehydration and constipation. Exercise as much as possible. Maintain a healthy weight to prevent obesity. Quit smoking to protect your heart and lungs. Get flu and pneumonia vaccines.

It is heartbreaking to receive a diagnosis like muscular dystrophy. Relying on devices like walkers prolongs your child’s independence for as long as possible. It’s okay to rely on loved ones for assistance. Don’t be afraid to communicate your concerns to your doctor. To find out more information about this condition, contact the Muscular Dystrophy Association.