Duchenne Muscular Dystrophy

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Duchenne Muscular Dystrophy
Body Parts: Whole Body
Medical Subjects: Children's Health Genetic disease
Overview

What Is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is a rare hereditary muscle degeneration disease, mainly manifested as slow, progressive, symmetrical muscle weakness and atrophy. It is a relatively common type in progressive muscular dystrophy, with an incidence rate of about 30/100,000 boys.

The inheritance of Duchenne muscular dystrophy is X-linked recessive inheritance, which only occurs in boys.

Most Duchenne muscular dystrophy starts at the age of 2 to 3 years and dies in the teens or twenties. There is no cure. However, some studies have reported that the average life expectancy of patients is 35 years.

Cause

What Is The Cause Of Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is a disease caused by genetic problems. The disease-causing gene is located on the X chromosome. Parents pass the disease-causing gene to their children.

How is Duchenne muscular dystrophy inherited?

The inheritance of Duchenne muscular dystrophy is X-linked recessive inheritance. Has the following characteristics:

  • Sons of sick male will not get sick.

  • Daughters of sick male will not get sick, but they will carry disease-causing genes.

  • Boys born to women with disease-causing genes are 50% likely to be sick.

Is Duchenne muscular dystrophy contagious?

No.

Symptom

What Are The Symptoms Of Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy usually begins to show symptoms at the age of 2 to 3 years, including:

Muscle pseudohypertrophy

One of the earliest symptoms of Duchenne muscular dystrophy is "muscle pseudohypertrophy", that is, muscle fiber atrophy. Fat and connective tissue replace the atrophied muscles. It looks as if the muscles have increased in volume and are tough to the touch. However, the muscle strength is actually weakened, and the patient will feel no strength. The most obvious part of pseudohypertrophy is the gastrocnemius, which is the muscle on the back of the calf, and muscles in other parts may also occur.

Muscle weakness

Muscle weakness starts in the trunk, and slowly spreads to the limbs, hands and feet. for example:

  • Muscle weakness in the pelvic area of a child can cause slow walking, easy fall, and difficulty going upstairs and squatting.
  • The weakness of muscles in abdomen, waist and thigh heel makes it impossible to sit up directly after lying down. You must first turn over and lie prone on the bed, and then slowly stand up with your hands. This is also the characteristic manifestation of Duchenne muscular dystrophy.
  • Muscle weakness at the shoulder and arm positions is often mild, and the shoulder blades can be seen prominently bulging when raising the arm.

Muscle atrophy

As the symptoms worsen, patients will experience obvious Achilles tendon contractures, drooping feet, and difficulty walking. Most children cannot walk around the age of 12 and need to rely on a wheelchair. Then the muscles of the whole body will atrophy significantly, and finally the respiratory muscles will atrophy, leading to weakness in breathing and coughing, impaired heart function, and eventually death.

Detect

How Is Duchenne Muscular Dystrophy Diagnosed?

The doctor will make comprehensive judgments based on the patient's clinical manifestations, hereditary pattern, age of onset, family disease status, plus electromyography, muscle pathological examination, serum examination, and genetic analysis.

What tests should be done for Duchenne muscular dystrophy to make a definite diagnosis?

Serum enzyme test

It is a blood test to check the content of enzymes related to muscle in the blood, such as creatine kinase, lactate dehydrogenase, and creatine kinase isoenzymes. The serum enzymes of Duchenne muscular dystrophy will be abnormally significantly increased (12-100 times the normal value).

EMG examination

Electrodes may be attached to muscles, or acupuncture may be used to check the reaction of muscles. Needle-pricking electrodes can cause tingling, just like needle-pricking.

Muscle biopsy

A small amount of muscle tissue needs to be removed through simple surgery or invasive operation, and then taken to the laboratory for examination. Observe whether there is necrosis and regeneration of muscle tissue, and detect specific proteins in muscle cells.

Genetic Testing

It is more expensive and time-consuming to directly detect whether there are related mutations in a patient's gene.

Other checks

X-ray, electrocardiogram, echocardiogram, etc. check the patient’s heart involvement. CT or MRI can find the extent of muscle damage. If the patient has a certain degree of cognitive impairment, an intelligence test is also needed.

Prevention

Can Duchenne Muscular Dystrophy Be Prevented?

The best prevention method is to perform prenatal genetic diagnosis. People with a family history of Duchenne muscular dystrophy should undergo prenatal genetic diagnosis. If a sick baby is detected, the pregnancy should be terminated to prevent the child from being born.

Treatment

Treatment Of Duchenne Muscular Dystrophy

At present, glucocorticoids (such as prednisone) are the main drugs for the treatment of Duchenne muscular dystrophy, but they can only increase muscle strength and delay the progression of the disease. There is no cure for this disease.

If you use this method of treatment, you need to monitor the side effects of glucocorticoids, such as peptic ulcers and bleeding, elevated blood sugar, elevated blood pressure, osteoporosis, hypokalemia, etc.

Do I have to go to the hospital for Duchenne muscular dystrophy?

Yes. Need to go to the hospital to make a clear diagnosis, evaluate the condition, and formulate a treatment plan.

Can Duchenne muscular dystrophy be completely cured?

can not. Patients generally die in their teens or twenties, and some studies have reported that the average life expectancy of patients is 35 years.

Life

What Should Patients With Duchenne Muscular Dystrophy Pay Attention To In Life?

Muscles will degenerate if they don't exercise, so you should exercise properly, don't stay in bed for a long time, and engage in daily activities as much as possible.

What should I pay attention to in diet?

There are no special taboos, pay attention to balanced nutrition, and increase protein foods, such as eggs, meat, and dairy products.

Does Duchenne muscular dystrophy affect fertility?

Does not affect. But pay attention to prenatal genetic diagnosis. If a sick fetus is detected, the pregnancy will be terminated to prevent the child from being born.

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