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Duchenne Muscular Dystrophy

What is Duchenne Muscular Dystrophy?

This is a progressive genetic disorder of muscle atrophy that normally affects just males. There are over three thousand five hundred males who have this medical disease. It usually hits males between the ages of five and twenty-four years of age and affects one in three thousand six hundred male births. There are nine different forms. One thing that makes this type different from the other types is that is becomes worse more rapidly.


Symptoms

The symptoms of this medical condition will usually appear before the child turns six years old. It could even appear in infancy. The most prominent symptom is tendon debility. Some of the symptoms include:

  • Calves that look bulky but are forceless.
  • In approximately one third of those with Duchenne muscular dystrophy the child will have learning disabilities with an IQ than may be below seventy-five.
  • Fatigue
  • By the age of twenty they may develop heart disease and have difficulties with their breathing.
  • Their shoulder tendons may become weak and when you try to hold them up by their arms they may slip away from you.
  • Having speech problems because of an enlarged tongue.

Muscle Weakness

  • Usually begins in their pelvis and legs but can happen in their neck, arms, shoulders, hips, and various other parts in their body that is not as severe.
  • Having trouble with their motor skills such as jumping, hopping, and running.
  • Falling frequently
  • Having trouble climbing the stairs or lying down and getting up from that position.
  • Worsening weakness.
  • May use his hands to help him get up and down which shows that he needs help to support his legs. This is referred to as Grower’s sign.

Progressive walking difficulty

  • May loose their walking ability by the age of twelve and have to have a wheelchair to get around
  • They may have a waddling gait when they do walk.
  • May walk later than normal

Causes

The cause of this medical condition is usually from a defective gene for dystrophin, which is a protein in your muscles and provides the support to the muscles of your body. The muscular deterioration that happens with this medical condition is the result of not having this protein. It can also happen in people that do not have a known history of this condition. The reason that boys are affected more than girls is the way that Duchenne muscular dystrophy is inherited. Females are usually the carriers of this gene mutation and will transfer the mutation to their son. Females may show a mild form of this medical disease but it is not fatal for them.

The sons of the mother’s who are carriers have a fifty percent chance of developing Duchenne muscular dystrophy and the daughters have a fifty percent of being a carrier themselves. If the male has the gene there is a hundred percent chance of the daughter being a carrier. There is zero percent chance of a father passing it to his son because a father can only pass on the traits that Y linked and X linked. It is a disorder that is sex-linked.

Treatment

Duchenne muscular dystrophy has no known cure so the treatment used is to help try and improve their life. Patients with this medical condition need to be as active as they can because if they are inactive the muscles deterioration only gets worse. Treatment can include:

  • Physical therapy to help keeps their muscles in the best possible condition they can be in.
  • Using braces to help improve the strength of their muscles and flexibility
  • Being prescribed medications such as corticosteroids to help prolong the function of their muscles
  • Using a wheelchair
  • Taking medication to help with heart function
  • Taking medication such as proton pump inhibitors if they have acid reflux.
  • Speech theraphy

Because the weakening of their muscles they could develop other medical conditions such as abnormal heart rate, scoliosis, and pneumonia so these conditions also have to be treated by their physician. In the later stages of Duchenne muscular dystrophy their lung function starts to deteriorate so they may need to use a ventilator to help prolong their life during the night or day time.

When the physician decides to use steroid medication to help slow down the loss of their muscle strength they may start it when the child is first diagnosed with this medical condition or wait until they start showing a decline in their muscle strength. There are also many new treatments that scientist and researchers are studying in trials.

Life Expectancy

How long a person lives with Duchenne muscular dystrophy really depends on the degree of muscle weakness but the average lifespan ranges from the late teens to the mid-thirties. There have been some rare cases of patients living until they are in their forties and fifties but have needed the help of ventilator support, proper positioning of their bed, heart medication, etc to live this long. Most patients who have this medical condition die by the age of twenty-five, usually from lung disorders. In the latest stages of Duchenne muscular dystrophy most of the patients require full time care and are completely disabled. As the condition gets worse there is more need for medical care.

Because this is a disease that causes progressive weakness it will eventually affect the functioning of their voluntary muscles which can lead to cardiac and respiratory complications. These are two of the complication that can cause death at an early age.

Duchenne Muscular Dystrophy Pictures

Pictures of Duchenne Muscular Dystrophy…

duchenne muscular dystrophy

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