Muscular dystrophy consists of several groups of inherited diseases that cause progressive weakening in the muscles that control movement. In addition to muscle weakness, muscular dystrophy causes deterioration of muscle cells and a defect in the muscles ability to produce protein. Serious forms of this disease affect the muscles surrounding the heart and other vital life organs. Muscular dystrophy can affect people at any time during their life. The number of infants and older adults diagnosed with this disease are comparable.

There are eleven types of muscular dystrophy; six will be discussed. Each type produces weakening of muscles. However, physicians categorize the different diseases based on rate of progression and patient’s age at the time of diagnosis. Although these diseases occur in both sexes, some types are more prone to affect males. Moreover, the rate and severity of progression varies. Some patients are able to lead a relatively normal and active life. On the other hand, some experience a rapid decline in health. In some cases, those diagnosed with muscular dystrophy during infancy suffer premature death before the age of 30. Fortunately, due to medical advancement, adults and children diagnosed with muscular dystrophy are living longer.

What causes Muscular Dystrophy?

Muscular dystrophy, which affects approximately 50,000 Americans, is caused by a gene mutation in the muscles. Men have two chromosomes, one X and one Y. Women also have two chromosomes, both being X. Most forms of muscular dystrophy occur when a mother passes a defected X chromosome to her son. Hence, males are more susceptible to muscular dystrophy. In order for a women to be affected with this disease, she must have two defected X chromosomes. However, this rarely occurs.

Six Major Types of Muscular Dystrophy

Myotonic Dystrophy: This is the most common form of muscular dystrophy and affects both males and females. This particular disease can develop at any given point during life, from childhood to late adulthood. In rare instances, a baby may be born with myotonic. More than half of all sufferers show signs of this condition in their early twenties. However, some do not show signs of the illness until after the age of 50. Myotonic dystrophy is a slow progressing disease. Although patients may suffer from premature death, many are able to lead a full life for several years following diagnosis. Muscles affected by this form of muscular dystrophy include the face, neck, arms, and feet. Common symptoms of early myotonic dystrophy include:

• Generalized weakness of muscles
• Difficulty swallowing
• Difficulty breathing

Duchenne Dystrophy: This form of muscular dystrophy is categorized by muscle weakness that begins in the legs and pelvic region. Over time, the weakness begins to affect the entire body. This disease primarily affects boys. Signs of duchenne dystrophy generally show between the ages of 2 and 6. Although the rate of progression varies, most sufferers require the use of walking braces or a wheelchair by their teen years. In most cases, this disease results in serious problems with the heart and breathing. This is primarily due to skeleton deformities. Sadly, children diagnosed with duchenne dystrophy usually die before their mid 20’s. Common symptoms of duchenne dystrophy include:

• Muscle weakness
• Falling frequently
• Difficulty running, jumping, or hopping
• Difficultywalking
• Unable to walk by the age of 12
• Fatigue
• Skeletal deformities
• Scoliosis
• Muscle deformities

Becker Dystrophy: This type of muscular dystrophy is similar to duchenne dystrophy, however, the symptoms are not as severe. This disease is also categorized by slow muscle deterioration. Becker affects males, and symptoms begin to appear between the ages of 2 and 16. Sufferers of becker experience walking difficulty by early adulthood. On average, males with becker dystrophy are confined to a wheelchair by the age of 35. Unlike duchenne dystrophy, males living with becker generally live a long life. Symptoms of becker dystophy include:

• Difficulty walking, running, jumping, etc.
• Falling frequently
• Trouble breathing
• Skeleton deformities
• Fatigue and weakness
• Heart problems

Limb Girdle Dystrophy: Type of muscular dystrophy that affects the hips, shoulders, and legs. This disease develops during the teenage years; however, it may occur at any time between the ages of 10 and 30. Limb girdle dystrophy affects both males and females equally. This illness progresses very slowly, and sufferers may experience little pain or discomfort in the early years. However, it appears that those affected with limb girdle during childhood experience rapid progression of muscle deterioration. On average, those diagnosed with limb girdle dystrophy require walking assistance within 20 years following their diagnosis.

Facioscapulohumeral Dystrophy: This type of muscular dystrophy affects the muscles that move the face. Facioscapulohumeral generally begins during the teenage and early adult years. Both males and females are affected with this disease. Because this type of muscular dystrophy rarely affects the legs, sufferers generally do not lose their walking ability. However, as the muscles in the face continue to weaken, individuals diagnosed with facioscapulohumeral may experience difficulty chewing, swallowing, or speaking.

Oculopharyngeal Dystrophy: This type of muscular dystrophy affects the eyes and throat. This disease appears in women and men between the ages of 40 and 60. As the disease progresses, it results in eye weakness, difficulty swallowing, and difficulty chewing. Some sufferers may have a noticeable eye deformity, as it becomes difficult to keep eyelids open. Because oculopharyngeal affects the throat area, those who suffer from this form of muscular dystrophy are prone to throat infections and pneumonia.

Diagnosing Muscular Dystrophy

Initially, it may be difficult for physicians to diagnose muscular dystrophy. Early symptoms may closely mimic other illnesses that affect muscles, thus a series of test are necessary. After a physical examination and discussion of family medical history, patients will likely undergo a muscle biopsy (removal of muscle sample), DNA testing (exams patient for gene mutations), nerve test (exams nerve function), and blood test. These tests are effective with diagnosing muscular dystrophy because they show whether a patient’s muscles are lacking dystrophin protein or have abnormal protein levels.

Treatment Options

There is no cure for muscular dystrophy. Those newly diagnosed with this condition must rely on prescription medications to reduce pain, and physical therapy to strengthen weakening muscles. However, many scientist and doctors are working diligently to find muscle building medications intended to slow and reverse the progression of muscular dystrophy. In addition, gene therapy projects are in the making. The purpose of these therapies is to replace defected X chromosomes with healthy chromosomes. If successful, this could possible cure many forms of muscular dystrophy.

Prevention

Although there is no way to prevent muscular dystrophy, couples who are planning to start a family may consult a genetic counselor. These counselors are generally visited by couples who have a family history of genetic disorders such as cystic fibrosis and certain types of cancers. Through a series of tests, counselors are able to determine whether future parents are carriers of a defected gene, and the likelihood that this defected gene may cause physical deformities or diseases in their children. In the case of muscular dystrophy, tests are only able to determine whether a parent is a carrier for duchenne and becker dystrophy. Of course, being a carrier of the defected gene does not guarantee that a child will inherit muscular dystrophy. The probability of passing the gene is between 25% - 50%.