Duchenne Muscular Dystrophy Definition, Reason, Symptoms, Treatment & Prevention

Duchenne Muscular Dystrophy 

Medical specialist	Orthopedic specialist, pediatrician, medical rehabilitation specialist, therapist
Symptoms	Facial muscle weakness, difficulty walking especially in the first 2-3 years, difficulty moving, frequent falls, crooked spine, stiff ankle joints, knees, and hips
Risk Factors	Family history, son
Diagnosis	Medical interview, physical examination, and investigations (serum creatinine kinase, muscle biopsy, electromyography, and echocardiography)
Treatment	Glucocorticoid therapy, cardiomyopathy therapy, pulmonary intervention, nutrition, orthopedic intervention
Drug	Prednisone, angiotensin enzyme inhibitors (ACE inhibitors) or beta-blockers
Complications	Paralysis, respiratory disorders, cardiovascular disorders, swallowing problems
When to See a Doctor?	There are symptoms of Duchenne muscular dystrophy

Understanding 

Duchenne muscular dystrophy or DMD is a genetic disease caused by mutations in the dystrophin gene, a protein important for muscle function.

The disease is inherited as a recessive x-linked trait, but about 30 percent of cases are caused by a new mutation.

The dystrophin gene mutation will cause the limited formation of the dystrophin protein, causing muscle weakness.

At first, DMD sufferers may experience a little difficulty moving or walking. Gradually, the disease can progress to the point where the patient cannot move and uses a wheelchair.

Symptoms of this disease usually appear at the age of 3-6 years and are more common in boys.

Symptoms 

Some of the symptoms of  Duchenne muscular dystrophy  that you need to pay attention to are:

• Weakness of facial muscles
• Difficulty walking especially in the first 2-3 years
• Difficulty running, climbing stairs
• Falls often
• The spine is bent
• Stiffness in the ankle, knee and hip joints

Reason 

Duchenne muscular dystrophy disease is caused by mutations in the gene that codes for dystrophin.

Without dystrophin, muscles cannot function or repair themselves properly. Loss of muscle will then result in loss of muscle strength and function.

DMD can also be passed on genetically from parent to child. However, this condition can also be the result of a random, spontaneous genetic mutation that occurs during pregnancy.

In fact, about one in three DMD cases occur in families with no previous history of the disease.

In other words,  Duchenne muscular dystrophy can affect anyone.

Risk Factors 

Having a family history of Duchenne muscular dystrophy increases your risk of developing this disease.

However, DMD can also occur even if there is no history of the disease in the family. In this case, the family can be the silent carrier of DMD.

Boys are also at higher risk of DMD than girls. Girls who get the DMD gene derivative will be asymptomatic carriers.

Meanwhile, boys who get the DMD gene derivative will become sufferers.

Diagnosis 

The diagnosis of  Duchenne muscular dystrophy is established through anamnesis (medical interview), physical examination, and supporting examinations. For example, laboratory tests (serum creatinine kinase ), muscle biopsies, electromyography and echocardiography.

From the history, the doctor can find out whether there are obstacles or delays in the child’s growth and development.

For example, the child’s stature looks shorter, hypotonia (the body is difficult to move and feels weak, especially at the knees and elbows) is mild, and the control of head movements is lacking.

In addition, weakness in facial muscles and difficulty walking will become more visible as children get older.

On physical examination, it can be seen whether there is lumbar lordosis and scoliosis accompanied by muscle contractures.

Respiratory disorders can also be found in DMD. Enlargement of the calf muscles, known as pseudohypertrophy, can also occur due to the atrophy of the thigh muscles.

In addition, pharyngeal muscle weakness can also be found which causes nasal regurgitation, nasal sound, and frequent aspiration.

In additional tests, such as laboratory checks, serum creatinine kinase  (CK) may increase during an examination, especially when newborns are born. Levels can increase up to 10-20 times when the child reaches the age of 2 years.

On muscle biopsy examination, tissue proliferation, degeneration, necrosis, and fatty infiltrates in the muscles can be found.

Treatment 

Until now there has not been found a cure for congenital dystrophy or  Duchenne muscular dystrophy.

Treatment is focused on administering glucocorticoid therapy, contracture prevention, cardiomyopathy management and also respiratory disorders. Here’s an explanation.

1. Therapy Glucocorticoid

Glucocorticoid therapy can reduce the rate of apoptosis and necrosis (death) in muscle tissue.

As for drugs, prednisone can be used for patients over 4 years of age with decreased muscle function.

The recommended dose is 0.75 mg/kg per day or 110 mg/kg per week and given for 2 days in 1 week.

2. Cardiomyopathy Therapy

Treatment of cardiomyopathy can use angiotensin enzyme inhibitor drugs (ACE inhibitors) or beta-blockers (Beta-blockers).

Several studies have shown that giving ACE inhibitors can slow the progression of heart problems.

In addition, regular checkups with a cardiologist using an EKG or echocardiogram are highly recommended.

3. Pulmonary intervention

Examination of respiratory function must be carried out in patients, especially those who use wheelchairs.

Because the vital capacity of the lungs was found to be below 80% in wheelchair users.

This examination should be repeated at least 2 times a year when the patient reaches the age of 12 years.

4. Providing Nutrition

Obesity prevention, giving calcium, and vitamins must be considered to prevent osteoporosis due to long-term use of steroid-class drugs.

5. Orthopedic Intervention

Physiotherapy to prevent contractures is the main focus in treating DMD.

Most patients require regular stretching exercises, the use of orthoses (special devices to stabilize/hold the limbs) on the legs while sleeping, and the help of a  brace to walk.

Prevention 

There is no way to prevent DMD because this disease is genetic.

One of the actions that can be taken is to routinely monitor the growth and development of children, identify whether there are early symptoms of DMD, and carry out genetic screening.

Complications 

Duchenne muscular dystrophy complications  include:

• Paralysis
• Respiratory disorders
• Cardiovascular disorders
• Swallowing disorders