Traumatology

What is Duchenne?

What is It?

This is a very serious muscle disease.  It affects boys and not girls.  Today there are over twenty thousand boys who are afflicted with this disease.  There are more than three hundred thousand in the world today.  This disease does not care who you are, where you are from, or how much money you have.

Boys who have Duchenne do not usually live to be in their twenties.  If they do live longer, it is likely that they will live out the remainder of their life in a wheelchair.  Since this is a disease of the muscles, as it progresses, body functions that we take for granted begin to fail.  Breathing becomes difficult.

The heart muscle is not able to work properly.  Duchenne is a form of muscular dystrophy.  It was originally discovered in 1986.  Duchenne is described as any irregular formation of the body structure.  Sometimes a cause can be determined and other times the reason for the problem is not known.  Duchenne muscular dystrophy affects only boys.  This muscle disease gets worse very quickly.  Other forms of dystrophy tend to evolve at a slower rate.  The other forms of muscular dystrophy also affect girls.  One in every thirty six hundred children is found to have Duchenne.  When considering the number of people world-wide, this number is astonishing.

 

What are the causes?

Duchenne muscular dystrophy is caused by a defect in a gene.  The gene specifically responsible for this disease is the one that determines the sex of a baby.  This particular gene is associated with the correct development of proteins in the muscle.  This can be inherited, but sometimes it is not.  Specialists do not know why the cases that are not inherited occur.

For some random reason the gene changes and Duchenne is established.  In the case of women and men who are carriers of this disease have a fifty fifty percent chance of having a child that will have this form of muscular disorder.  It is usually found by the time the child is six, but can be discovered at birth.

Symptoms

A child is normally diagnosed between the age of two and six years of age.  There are only a few symptoms of Duchenne Muscular dystrophy.  Here are a few of the common signs.  The feeling of being tired all the time, Problems learning, Logic complications, and muscle weakness.  Some muscle groups may look larger than they are supposed to be.  This happens because scar tissue material is replacing the muscle itself.  The loss of flexibility in the joints also transpires.

The breakdown of muscles usually starts in the calves.  When the muscles are not quite right, falling episodes are frequent.  The muscle weakness usually starts with the legs and works its way up the body.  Arms may not be affected.  Duchenne also impacts motor control.  Signs of this problem are not being able to perform normal development activities like hopping, jumping and running.  The child will not reach the normal growth rate as other children.  The child will not sit, crawl, or walk by the usual age that this happens at.  The person with this affliction will also have trouble getting up when they have been lying down.  This muscle disease will get worse quickly.  The simple task of walking becomes more difficult and by the age of twelve the person will be confined to a wheelchair.  If the person lives passed the age of twenty, he/she will have difficulty breathing and will develop some form of heart disease.

When it comes to school the teacher needs to be aware of the child’s situation.  Both the parents need to watch for signs of speech difficulty, not able to express their feelings, a limited number of words he can say, problems with recalling words, and any sign of a learning disability like dyslexia.  It is very common for the child to have this type of problem learning.

How is it Diagnosed?

If Duchenne is a concern there are tests that can be done to determine if that is the problem, or if it is some other medical problem.  The tests that are usually performed are an EMG (electromyography), tests involving gene abnormalities, a test for Creatine phosphokinase also known as CPK.  CPK is an enzyme that is found in muscle, spinal fluid, and the brain.  The test for CPK is testing blood.  A small amount of muscle could be taken in order to test it.  As the child grows the need for special equipment will be necessary.  This equipment is a walker and a wheelchair.

 duchene

 

What are the risks?

There are a few medical problems that will arise because of Duchenne.

As the lung muscles are not able to work as well as they need, pneumonia is a serious concern.  Choking is a hazard because swallowing becomes difficult.  Drinking fluids have a tendency to get into the lungs and cause serious problems.  The health problems that do and can occur are respiratory failure, incapable of taking care of themselves, heart problems, malformations, and retardation. This usually happens in the later stages of the disease.  There are different stages as this disease advances.

These phases are the early phase, the transitional phase, and the loss of ambulation which is also called the adult stage.  The early phase begins at birth through six.

The transitional phase happens between the ages of six and nine.  The last phase normally occurs at the age of nine through fourteen.  The early phase of Duchenne is when signs begin to be visible.  The transitional phase is when signs like trouble walking, walk on the toes or the heel in order to balance better while walking,  walk with stomach extended and shoulders are held back, he may put is bottom in the air and use his hands to walk up his legs in order to stand.  He may start developing heart problems that are not necessarily noticed.  Muscle weakness will be subtle changes.  For instance, he may no longer be able to carry text books for school even if they are in a backpack.  At this point he will noticeably get tired easier.  Walking around the classroom becomes a chore.  Using a stroller, walker, wheelchair, or a scooter may need to be supplied to make long walks easier to accomplish.

During the loss of ambulation stage it is common for him to need a power scooter on a full time basis.  Any activity that takes the use of arms, legs, and waist will need to have aid to accomplish if he is not already wheelchair bound.  It is no surprise that at this stage he will tire very easily.  Because he remains sitting most of the time, scoliosis develops.  The muscles are too weak to hold the spine in place.  Muscle cramps become painful.  His arms will make dressing difficult.

At this point the only thing that may be accomplished is some writing or using a computer.  The final stage is when heart problems are more noticeable.  Breathing is more difficult in this stage.  It may be necessary to have a tracheotomy done so it is easier to breath.  At this point pneumonia is a great concern.  We can cough any fluids out of our lungs, but he will not be able to.  As your son grows up, he will notice that he is different from other kids his age.

Between the age of one and seven there are things to look for. The result could be outbursts, depression, and it could impact his ability to learn.  The best thing to do at this point is to seek the help of a trained professional that deals with his type of disease.  You want to do this to help your son learn to cope with what is going on in his life at the time.  Also, this will help deal with emotional upsets in the future.  It is also important to let him do as much as he can on his own.

This will help with his self-esteem.  This can be as simple as brushing his teeth or brushing his hair.  If he is able to dress himself, at all then let him do it until he cannot.  The next stage is between the ages of seven and eleven.  Memory problems can become a major source of concern.  So is losing short term memory and not being able to pay attention in class.  By the age range of seven through twelve learning problems are more pronounced.  He will not be able to keep up with his homework.  Short term memory problems will get worse.

During this age range boys are expected to be more responsible for their cooperation in doing homework or activities in the classroom.  As the work in school gets more difficult signs of learning disabilities become more visible.

Video of Duchenne


 

What is the treatment?

There is no cure for Duchenne. Prevention is a well-known word for most of us.  With that said if there is a family history of Duchenne then genetic testing should be done as soon as possible.  If there is no family history of this disease, then testing needs to be done at the first signs of any kind of developmental delay.

Any treatment plan that is developed is to try to make the person’s life as good and comfortable as possible. If at all possible early diagnosis is the best route.  The earlier the treatment can begin the better the child will be in the long run. There are a number of specialists your child may need to see on a regular basis. Here are the possible doctors that will be able to come up with a treatment plan for your son.  A heart doctor, a lung doctor, physical therapist, speech therapist, a gastroenterologist (stomach doctor), psychiatrist, nutritionist, and an endocrinologist are just a few physicians to consider consulting. Not all children will need to see all of these doctors.  It will depend greatly on each child’s problems.

It is necessary to have regular exams to check for an enlarged heart.  Steroids have been used in order to keep the muscles from getting weak so fast. A side effect of steroids is that the child may become more susceptible to arguing.  It can also affect their emotions.   Other medications are also used to help with the effects of Duchenne.  A few of these drugs are Albuterol, vitamin E, Creatine, fish oil, and amino acids.  A ventilator may need to be used during the night or during the day.

The doctor may prescribe medicine in order to help the heart work better.  Physical therapy is an important part of the treatment plan.  Without it the muscles will lose strength quicker.  There is a specialized group called Parent Project Muscular Dystrophy that has helped develop a guideline for caring for our children with Duchenne.   Any of the doctors that are helping care for your child will be able to give you resources concerning this group and others.

 

Conclusion

It is important that your child feels included in any way possible.  When he is old enough and is capable of making good decisions, include him in the treatment plan options.

Let him voice his concerns and questions.  If he is capable of making good decisions let him help to decide what needs to be done.  The specific guidelines that have been created are ways to make him more comfortable and enjoy life, physical therapy regiments, and emotional concerns that come up, thinking concerns, and School work problems.

There are continuing studies going on in order to find better options for the patient.  Stem cell research is being studied now.  Finding a support groups can help with the stress of taking care of someone with Duchenne.  It is a great source of information. Talking to others with the same problems can help you cope with the situation.  Caring for a loved one with this disease can add a lot of stress in your life.

There may be times when the child appears to be getting better, when in fact the muscles are still worsening.

We will be expanding on this important topic in future articles. While I recommend you to register to download an e-book: “Adult Prevention Guide” for better health, a FREE

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The Team Manager Web Diseases

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