Muscular dystrophy (MD) is a group of genetic diseases that cause weakness and muscle wasting, primarily in the skeletal or voluntary muscles. These are the muscles we are normally able to control, such as the muscles in our arms and legs. Most people with MD experience some degree of muscle weakness during their lifetime. Each of the various types of the disorder affects different muscle groups and may have different symptoms. Because muscle weakness usually progresses over time with muscular dystrophy, lifestyle changes along with assistive devices and Occupational Therapy may be needed to help a person adapt to new situations.
All the forms of MD are inherited; that is, they are caused by mutations in a person’s genes. Our genes are made of DNA and reside in our chromosomes. Each gene contains the “recipe” for a different protein, and these proteins are necessary for our bodies to function correctly. When a gene has a mutation, it may make a defective protein or no protein at all. Most commonly, missing or defective proteins in the muscles will prevent muscle cells from working properly. The lack of proper muscle function leads to symptoms of MD, including muscle weakness and muscle wasting over time.
Most forms of MD are progressive, meaning they tend to worsen with time. The age of onset and rate of progression can vary widely with different types of MD. Some types of MD can affect life expectancy. In many cases today, advancing medical knowledge offers treatment for symptoms that are most likely to decrease life expectancy. In most cases of muscular dystrophy, muscle mass in the affected regions may become visibly wasted or decrease in size. Eventually, the arms, legs or trunk may become so weak they cannot move. Some forms of MD are accompanied by con-tractures, which is stiffness in the joints, and scoliosis, which is a curve in the spine.
Other forms of MD have effects on the respiratory muscles. In Duchenne muscular dystrophy, the diaphragm and other muscles that operate the lungs may weaken, making the lungs less effective in breathing. If breathing abilities decline, a coughing machine can be used to assist the patient in clearing lung secretions. Many individuals with MD use a bi-pap machine, which provides non-invasive, assisted ventilation to improve the ease of breathing during sleep. If respiratory symptoms progress over time, assisted ventilation helps provide sufficient airflow in and out of the lungs.
MD that affects the swallowing muscles may require the individual to take precautions when eating or drinking so that food is not aspirated into the lungs. Although most types of MD do not affect the brain, several types do produce brain changes that may cause slight-to-severe learning disabilities. Some forms of MD also affect the heart, and if so, special precautions must be taken to monitor heart function. In short, each type of MD has its own special areas of concern.
There are currently no cures for any form of muscular dystrophy, but there are many therapies designed to help deal with common symptoms. For instance, contractures may be helped by physical therapy and/or tendon-release surgery. Scoliosis may respond to bracing or surgery. Heart conditions may respond to medication and/or a pacemaker. With advances in medicine today, many people with MD live very full lives.
But Where Did It Come From?
When people are told they have a genetic disorder such as muscular dystrophy, bewildered patients often ask, “But it doesn’t run in the family, so how could it be genetic?” MD can run in a family, even if only one person in the biological family has it. Because of the manner in which genetic diseases are inherited, they may be a subtle part of family medical history.
Each form of MD follows one of three patterns of inheritance: recessive, dominant or X-linked. If the disease is caused by a recessive pattern, two copies of the defective gene, one from each parent, are required to produce the disease. Each parent will be a carrier of the gene flaw, but neither parent will usually have the disease. If a disease is caused by a dominant pattern, then only one copy of the genetic defect is needed to cause the disease. Anyone with the gene flaw will have disease symptoms and can pass the disorder to their children. If a disease is caused by an X-linked pattern, it is passed from mother to son. Daughters who inherit the X-linked pattern can be MD carriers but they generally do not get the disease.
Many times MD appears to occur “out of the blue,” but in reality, one or both parents may be carriers of the genetic mutation. Many parents have no idea they are carriers of a disease until they have a child who has the disease. In rare cases, MD actually can occur “out of the blue” when a new mutation occurs with a baby’s conception, even if neither parent carries the gene flaw. These cases of MD are called spontaneous mutations. After a mutation occurs, the gene flaw can be passed on to the next generation, thereby introducing the genetic pattern for a specific MD into a family.
How Does the Muscular Dystrophy Association Help?
Anyone diagnosed with one of the 43 types of muscular dystrophy/neuromuscular disease that the Muscular Dystrophy Association (MDA) covers is eligible to receive services. Services available through the MDA nationwide are as follows:
• The MDA sponsors clinics at Fairview University Medical Center and the Mayo clinic. The MDA provides third party payment for selected medical expenses at these clinics. Physical and Occupational Therapy can be arranged through your child’s school or through your MDA clinic.
• The MDA provides up to $2,000 every 3 years for children under 18 years old and $2,000 every 5 years for adults to use for the purchase of a wheelchair, scooter or leg braces.
• The MDA provides up to $500 every year for repairs to a wheelchair, scooter or leg braces.
• The MDA provides up to $2,000 once in a lifetime towards the purchase of an augmentative-communication device.
• The MDA locally manages an equipment pool of donated equipment, which is loaned out to MDA clients.
• The MDA hosts 9 local support groups.
• The MDA locally hosts an annual conference, free of charge, to MDA clients and health professionals in the community.
For more information, contact the local MDA office in Edina by phone: 952-841-0533 or email: firstname.lastname@example.org.