In General Knowledge for the Family, Physical & Mental Health

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is one of several genetic illnesses that causes muscle weakness. It gradually becomes worse until the person has little to no muscle strength left. Muscles begin to waste away and no longer can support the body. In total, muscular dystrophy has nine different types. Muscular dystrophy is never an easy disease to deal with, partly because it affects young boys. If parents believe their child may have a problem with muscular dystrophy or another similar condition, they need to seek the help of a qualified physician immediately.

What Is Duchenne Muscular Dystrophy?

Muscular dystrophy causes skeletal muscles in the body to deteriorate. It is a genetic condition that affects the skeletal muscles throughout the body. With Duchenne muscular dystrophy, the protein dystrophin is absent in the muscle tissue. Dystrophin keeps the muscle cells intact. Without it, the muscle cells begin to die, causing loss of strength and mobility. Signs of DMD are first seen between the ages of 3 and 5, in most cases.

Duchenne Muscular Dystrophy Symptoms

The first symptoms of Duchenne muscular dystrophy are often in the shoulders, upper arms, hips, thighs and chest. Children are often diagnosed after parents notice them having difficulty sitting, standing, walking or picking up objects. Weakness becomes more profound in the hips and pelvic area, causing a delay in crawling and walking. Boys diagnosed with the disease may not walk until they are 18 months or older. Duchenne and Becker muscular dystrophy are normally only found in males, but can affect girls in extremely rare cases.

Muscles, like the calves, may become larger than normal. As DMD progresses, the excess muscle tissue is converted to connective tissue and fat. Muscle tone and strength are gradually lost as the progression of the disease begins to escalate. The bones are not affected by DMD. As the condition begins to worsen, the muscles cannot keep up with the constant pressure of the continued bone growth, and deformities begin to appear. In most cases, the deformities occur in the spine and long bones of the body.

Duchenne Muscular Dystrophy Treatment

For now, there is still no known cure for Duchenne muscular dystrophy. Proactive measures can be taken that allow the child to live as comfortably as possible and help them to maintain as much mobility as their condition will allow. Corticosteroids and heart medications (beta blockers) are often used to help reduce inflammation and relieve pain. DMD will eventually begin to affect the heart, but that is often during the final stages of the disease.

Physical therapy and braces are also commonly used in the treatment of DMD. Range of motion exercises are used to keep muscles strong and the joints moving freely for as long as possible. In addition to range of motion, other types of exercise, such as swimming, yoga and stretching are also encouraged.

Braces and other mobility aids are used to help the individual move as freely as possible for as long as possible. Braces are designed to provide support as muscle tone and strength are steadily lost. As the muscles begin to atrophy, there will come a point in time where the braces will no longer work. When it gets to the point where walking in braces becomes extremely painful, a walker may be needed, and after that, a wheelchair.

The muscles in the chest that aid in breathing will slowly begin to deteriorate over time. This can cause sleep apnea and may eventually require the person to sleep with a CPAP apparatus to ensure they are getting enough oxygen. As it gets harder for a person to breathe, oxygen levels will begin to drop, putting added pressure on the heart. As time passes, the heart muscle will begin to atrophy from lack of oxygen and the effects of the illness.

Duchenne Muscular Dystrophy Prognosis

With Duchenne muscular dystrophy, each prognosis will be different, because no two patients will experience the disease in the same way. For some, the deterioration may happen very slowly, allowing them to remain mobile and live a somewhat normal life. In other cases, the disease may advance so rapidly that a child never gains enough strength to ever be fully active.

No matter how slowly the disease progresses, there will be certain complications that begin to appear over time. While it may take longer for them to begin to show in some people, small signs may become apparent. They include:

  • Scoliosis or curvature of the spine – This normally occurs when muscles that support the spine begin to weaken. The muscles hold the spine upright. If they begin to weaken, they may not be able to hold the spine in the right position. This can lead to permanent deformities.
  • Problems swallowing – Individuals who begin to have difficulty swallowing may not be able to eat or drink without choking. When this happens, a G-tube can be used to help ensure the patient gets adequate nutrients.
  • Inability to walk – Over time, the muscles in the legs become so weak that they can no longer support the body. The shortening of connective tissue can begin to cause a person to walk on their toes or have a pronounced limp.
  • Contractures or the shortening of muscles close to the joints – As the muscles begin to deteriorate, they can pull on tendons and other connective tissues, causing them to tighten and shorten in length. The shorter they become, the less mobility a person has with that particular joint.
  • Breathing problems – DMD affects the chest skeletal muscles that allow a person to breathe. Once the muscles begin to weaken, it becomes much harder for the person to breathe. Once the disease progresses to a certain point, a ventilator or other breathing apparatus may need to be used.
  • Heart problems – DMD also has a dramatic impact on the heart. Not only does the heart muscle lose tone because of decreased oxygen levels, it will also weaken due to the progression of the disease.

Duchenne Muscular Dystrophy Life Expectancy

The severity of the disease and how fast it progresses can determine the patient’s life expectancy. Patients can live any where from 5 to 50 years, depending on how the disease progresses and what measures are taken to prolong the person’s life. If the diagnosis is made early enough, proper steps can be taken to provide adequate nutrition and exercises that help the muscles stay toned and healthy. Such measures may increase a person’s life expectancy.

With DMD, there are no guarantees and no promises. Even if a person’s prognosis is extremely good, the weakened state of their muscles can lead to various other problems, such as infectious muscle disease, upper respiratory infection, and weakened heart and lungs. Making sure the patient eats nutritious meals and exercises as much as their condition permits is the very basic step.

For as basic as exercise and nutrition are, they are also the most important. To keep the body strong, the person needs the right amount of nutrition to sufficiently fuel the body. The body must also be kept moving and the muscles active in an attempt to retain as much live muscle tissue as possible. Range of motion helps to keep the joints moving smoothly and freely, while regular form of exercise not only strengthens muscle tissues, but also improves heart and lung function.

Young boys and men who have been diagnosed with Duchenne muscular dystrophy need to remain active for as long as possible. Once muscle tissue has converted to fat or connective tissue, it cannot be regrown as muscle. Any attempt to strengthen the body and help to retain a rigid skeletal structure will allow the person that much more time to be mobile and on the go.

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