Muscular Dystrophy

Muscular dystrophy (MD) is a catch all term that describes a dreaded group of neuromuscular degenerative diseases that are estimated to affect approximately 1 out of every 5600 men worldwide. MD can affect both genders, but men are affected by it more often than women.

No matter what the type, muscular dystrophy is a genetic disease. Various types of problems can spring up from different mutations. It runs in families but can also happen from a random mutation.

The effect of these mutations is to weaken the very fabric that makes up the muscles. They grow weak as the disease sets in, and eventually break down.

Duchenne muscular dystrophy (DMD) is by far the most common type of MD. This particular variant is caused by a well known mutation that happens to the X chromosome. Males have only one X chromosome while females have two. If a male gets a mutated gene from his mother, he will definitely have DMD. If a female gets one bad X chromosome and one good X chromosome, she may be a carrier of the disease but will not suffer from it. The disease takes effect when both the X chromosomes are mutated in the female.

The symptoms of MD differ from case to case, and patient to patient. DMD tends to start during childhood.

The symptoms that emerge at an early age are:

• Frequent falls
• Difficulty getting up from a lying down or sitting position
• Trouble running and jumping
• Waddling gait
• Large calf muscles
• Learning disabilities

A diagnosis of MD requires a medical history review and an examination of the nervous system and muscles. Some investigations may also be required to confirm the diagnosis. They include: Enzyme tests: Damaged and dying muscles release enzymes when they break down. One such enzyme is creatine kinase (CK).  In the absence of traumatic injuries, high blood levels of CK suggest a muscle disease like MD.

Electromyography: The test is done by injecting an electrode needle through the skin and into the muscle that is to be tested. Electrical activity is measured while the muscle is at rest and when the muscle is gently tightened. Changes in the pattern of electrical activity can point to a muscle disease.

Muscle biopsy: A piece of muscle tissue is removed through a small incision or with a hollow needle while the patient is under anesthesia.

Genetic testing: Blood samples can be examined for mutations in some of the genes that cause different types of muscular dystrophy.

When it comes to medications, the most common drugs prescribed are corticosteroids. They can help improve muscle strength and delay the progression of the disease. Of course, the use of steroids has its side effects but they work. On the other hand, having DMD causes other issues. Respiratory infections can become a bigger problem, especially in the later stages of muscular dystrophy. Therefore, it is important to be vaccinated for pneumonia and influenza.