Conway McLean, DPM

Illness, of some sort, is generally considered more a facet of our later years. Although not all experience it, many common maladies are a part of the aging process, more so now than ever. Chronic disease has been the number one killer of humanity for years now. And these occur more in the elderly. This is normal. But there’s nothing more heartbreaking than the illness of a young person.

The constellation of conditions termed the muscular dystrophies are particularly disturbing since they occur primarily in the young. It’s a group of inherited diseases that weaken muscles, and often lead to muscle loss. Which and when varies depending on which type of MD it is. Muscular dystrophy can occur at any age, but most diagnoses occur in childhood. Young boys are more likely to have this disease than girls. It is rare, affecting about 1 in 3500 boy births around the world, and is usually diagnosed between 3 and 6 years of age.

In the muscular dystrophies, abnormal, mutated genes lead to an absence of a particular protein. This abnormality results in changes to this protein, a substance required to keep muscle cells intact and functioning. Muscle cells without enough of this protein become damaged as muscles repeatedly contract and relax. Damaged muscles become progressively weaker, often resulting in the necessary use of a wheelchair. Naturally, the manifestations will depend on the type of muscular dystrophy.

Can you imagine being eight years old and wheelchair bound? This is a common development for many with Duchenne’s, the most common form of muscular dystrophy amongst children. Much more common in boys, girls rarely develop Duchenne’s muscular dystrophy (DMD). DMD also leads to a loss of reflexes and difficulty standing, even thinning of bones. More problematic are the heart and lung problems which often prove deadly. Other symptoms may include trouble breathing or swallowing. Life expectancy for those with this disease is late teens or twenties.

Some forms of muscular dystrophy have a less challenging course, one example being Becker muscular dystrophy. Like Duchenne in many ways (such as affecting boys much more than girls), Becker leads to weakness in the arms and legs, which can contribute to falls. But individuals so afflicted typically are ambulatory into their 30’s before needing a wheelchair. Importantly, people with Becker MD usually live into middle age or more.

Congenital muscular dystrophy is another type, characterized by an earlier appearance of weakness. The symptoms of this form will generally appear between birth and 2 years of age. Parents will note a delay in developmental landmarks. Children afflicted will have difficulty sitting without support, as well as problems breathing and swallowing. Due to an imbalance in muscle groups, even foot deformities can result.

An accurate diagnosis is essential. Fortunately, there are different tests available to definitively identify muscular dystrophy as a cause for any constellation of symptoms. For example, certain enzymes released by muscles damaged with MD are found in the bloodstream and can be measured with a simple blood test. Genetic testing can determine if there are markers for MD. A common test is an electromyograph, where muscle activity is measured with a needle placed into a muscle belly. Alternatively, a biopsy of a muscle may be needed to diagnose MD whereby a small piece of muscle is harvested for testing.

Muscular dystrophies typically shorten a person’s life, although some enjoy a normal lifespan. Symptoms may be mild and progress very slowly. In contrast, others experience swift and severe muscle wasting and weakness. Many do not reach their late teens to early 20s. Again, it depends on both the type and severity of the form of muscular dystrophy.

It is an unfortunate truth: we currently have no cure for muscular dystrophy, but important research is on-going. And symptoms can be reduced and controlled. The specific treatments selected will depend on the manifestations of the disease. The muscle changes can be minimized with various physical therapy techniques. These can aid in the management of symptoms and slow the progression of certain aspects of the disease.

Steroid medications are used to strengthen muscle and slow deterioration. Breathing aids, even assisted ventilation, may be needed if respiratory muscles are involved. Surgery of different sorts may help. Correction of an abnormal bend in the spine, surgery for cataracts, lengthening of some tendon to correct for contracted muscles, many surgical procedures provide relief of symptoms. The goals in the treatment of MD need to be reasonable and appropriate: increasing an individual’s self-sufficiency, or improving social skills, providing better access to community services.

Advances in genetics are leading to different approaches to treatment. Gene therapy is a promising approach that uses the fundamental units of heredity to treat problems resulting from mutations in an individual’s genetic code. These therapies consist of quieting, replacing, or removing a mutated gene. Another approach is to introduce a new gene to provide some new function. Many directions are being evaluated.

Muscular dystrophy is thankfully a rare disease. Too often it’s a disabling condition, and it is without a cure. As medicine advances and new discoveries are made, perhaps some therapy will become available allowing this horrible disease to be vanquished, even eradicated from the earth, like polio, or rubella. A vaccine for an inherited condition is hard to imagine with our current level of knowledge. This speaks to the fact there is much we do not know. But if the rate of new discoveries continues, even this seems possible. Medical and scientific research, objective and without corporate bias, must continue to be supported. Let us hope a cure for this disabling malady is someday developed.

Editor’s note: Dr. Conway McLean is a physician practicing foot and ankle medicine in the Upper Peninsula, with a move of his Marquette office to the downtown area. McLean has lectured internationally on wound care and surgery, being double board certified in surgery, and also in wound care. He has a sub-specialty in foot-ankle orthotics. Dr. McLean welcomes questions or comments atdrcmclean@outlook.com.