Muscular Dystrophy

Muscular Dystrophy

Muscular dystrophy is a group of diseases that cause the muscles to weaken, as well as lose their density and function quickly . Muscular dystrophy can be experienced by all age groups, but in most cases, this disease attacks children, especially boys.

Muscular dystrophy is a rare disease that is generally passed down in families. The symptoms of this disease can be mild, but get worse over time. In severe conditions, sufferers of muscular dystrophy can lose the ability to walk, talk, or take care of themselves.

Although muscular dystrophy can cause muscle atrophy , the two conditions are different. Muscular dystrophy is caused by genetic abnormalities, while muscle atrophy occurs due to the loss of muscle mass due to disuse for a long time.

Causes of Muscular Dystrophy

The cause of muscular dystrophy is a genetic abnormality or mutation (change) in the gene responsible for regulating the function and forming the muscle structure. The gene mutation causes disruption in the production of proteins that the body needs to form muscles and maintain proper muscle function.

Muscular dystrophy occurs more often in children, especially boys. This disease can be passed down in families with similar diseases. However, muscular dystrophy can also occur randomly and suddenly even if there is no history of the disease or genes passed down in the family.

Symptoms of Muscular Dystrophy

The symptoms of muscular dystrophy can be different for each sufferer. However, the symptoms of muscular dystrophy generally cause muscle weakness that worsens over time.

Symptoms experienced by patients with muscular dystrophy can be differentiated based on the type. The following are the types of muscular dystrophy and the accompanying symptoms:

1. Duchenne muscular dystrophy

Duchenne muscular dystrophy is the most common type. Sufferers are mostly boys, but girls can also be affected by Duchenne muscular dystrophy with mild symptoms.

Symptoms of Duchenne muscular dystrophy generally appear when children are 5 years old. Muscle weakness usually starts in the legs and upper arms. After that, health disorders appeared in other parts of the body, including the heart, lungs, and spine.

Symptoms of Duchenne muscular dystrophy include:

  • Difficulty walking
  • Often falls
  • Difficulty getting up from a sitting or sleeping position
  • Bad posture
  • Bone thinning
  • Muscle pain and stiffness
  • Scoliosis
  • Learning disorders
  • Difficulty breathing
  • Difficulty swallowing
  • Lungs and heart weaken

2. Becker muscular dystrophy

Becker muscular dystrophy is similar to the Duchenne type, but this type is less severe. Symptoms of Becker muscular dystrophy appear in the age range of 11–25 years, which is characterized by weakening of the muscles around the legs and arms.

The following are the symptoms of Becker muscular dystrophy:

  • Walk on tiptoe
  • Fall often
  • Muscle cramps
  • Hard to stand

3. Congenital muscular dystrophy

Symptoms of this type of muscular dystrophy begin to occur from birth until the child is 2 years old. Congenital muscular dystrophy is usually characterized by underdeveloped motor function of the child.

Symptoms of congenital muscular dystrophy include:

  • Muscle weakness
  • Unable to sit or stand without assistance
  • Unable to control the limbs
  • Scoliosis
  • Foot deformities
  • Difficulty swallowing
  • Visual impairment
  • Speech disorder
  • Intellectual disability
  • Respiratory disorders

4. Myotonic muscular dystrophy

Symptoms of myotonic dystrophy usually appear in the age range of 20–30 years. Myotonic dystrophy causes the muscles to be unable to relax or relax after contraction. The symptoms most often appear around the face and neck. In addition, this type can also affect the brain and organs that produce hormones.

Symptoms of myotonic muscular dystrophy can be:

  • The face looks sagging, thin, and has a pointed chin ( hatchet face )
  • The neck looks thin like a goose's neck so it is difficult to move
  • Difficulty swallowing
  • Early baldness in the front of the head
  • Visual impairment
  • Weight loss

5. Facioscapulohumeral muscular dystrophy

Facioscapulohumeral symptoms appear in adolescence. Facioscapulohumeral affects parts of the facial, shoulder, and upper arm muscles.

Symptoms of this type of muscular dystrophy can be:

  • Difficulty chewing or swallowing
  • Shoulders become tilted
  • Abnormal mouth shape
  • The shoulder looks like wings

6. Limb-girdle muscular dystrophy

Symptoms of this type appear in the age range of children to teenagers. Usually, the early symptoms of Lim-girdle muscular dystrophy occur around the shoulders and hips, but it can also appear in the legs and neck.

Some symptoms of Lim-girdle muscular dystrophy are:

  • Hard to stand
  • Difficult to walk
  • Difficulty carrying heavy objects
  • Easy to fall and stumble

7. Oculopharyngeal muscular dystrophy

Symptoms of oculopharyngeal muscular dystrophy generally only appear around the age of 40. This type of muscular dystrophy makes the sufferer feel weak in the muscles of the face, neck, and shoulders. The symptoms experienced can be:

  • Drooping eyelids
  • Difficulty swallowing
  • Voice change
  • Sight problem
  • Heart disorders
  • Difficult to walk

8. Distal muscular dystrophy

Symptoms of this type of muscular dystrophy generally appear in the age range of 40-60 years. Distal muscular dystrophy affects the muscles of the forearm, hand, calf, and foot. Distal muscular dystrophy can also affect the respiratory system and heart muscle.

Symptoms of distal muscular dystrophy include loss of mobility and difficulty walking.

9. Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy usually begins in childhood and occurs more in boys than girls. Emery-Dreifuss muscular dystrophy generally affects the muscles of the upper arms and lower legs.

A number of symptoms that can be experienced when suffering from Emery-Dreifuss muscular dystrophy are:

  • Weakness in the upper arm and lower leg muscles
  • Shortening of the muscles in the spine, neck, ankles, knees, and elbows
  • Respiratory disorders
  • Heart disorders

When should you go to the doctor?

Immediately go to the doctor if you experience the symptoms that have been mentioned before, especially if you start falling often, have difficulty sitting and standing, or your child is experiencing developmental delays.

If you or your partner has a family member suffering from muscular dystrophy, it is recommended to do genetic counseling when planning pregnancy. If you have been diagnosed with muscular dystrophy, follow the therapy given by the doctor and do regular check-ups so that your condition is monitored.

Diagnosis of Muscular Dystrophy

The doctor will ask questions and answers about complaints and the health history of the patient and his family. After that, the doctor will perform a comprehensive examination, including a neurological examination.

The purpose of the neurological examination is to detect disorders of the nervous system, detect muscle weakness, test reflexes and coordination, and check muscle contractions.

To confirm the diagnosis, the doctor will perform several supporting examinations, such as:

  • Blood test , to measure the level of the enzyme creatine kinase, which is an enzyme released by the body into the bloodstream when the muscles are disturbed
  • Muscle biopsy , to check for abnormal cell or tissue growth and to rule out muscle disorders due to other conditions
  • DNA test , to detect abnormalities or gene mutations that can cause muscular dystrophy, one of which is the dystrophin gene
  • Electrocardiogram , to measure and record the electrical activity of the heart
  • Lung function test , to find out and detect disorders in the lungs
  • Electromyography , to measure the electrical activity of muscles, in order to distinguish muscular dystrophy from other neurological disorders
  • MRI or USG, to check muscle mass

Treatment of Muscular Dystrophy

Muscular dystrophy is a condition that cannot be cured. The existing treatment is limited to relieving symptoms, maximizing muscle function, and preventing the occurrence of worse conditions.

The following is an explanation of some treatment methods for muscular dystrophy:


Some of the medicines that doctors can prescribe to deal with muscular dystrophy are:

  • Corticosteroids , such as prednisone, to maintain muscle strength, respiratory function, and slow disease progression
  • Anticonvulsants, such as barbiturates , to control muscle spasms
  • Immunosuppressants , to slow down muscle cell damage
  • ACE inhibitor or beta blocker , to overcome cardiac disorders caused by muscular dystrophy


Some types of therapy that can be done to relieve symptoms or disorders due to muscular dystrophy are:

  • Physical therapy , to train muscle strength and flexibility
  • Occupational therapy , to maintain mobility and train the patient's independence
  • Speech therapy, to make it easier for patients to speak if their facial muscles are weak
  • Respiratory therapy, to help patients breathe

In addition, muscular dystrophy patients can be given aids, such as canes or wheelchairs, to help their mobility or activities.


Surgery for muscular dystrophy aims to repair joints and spinal disorders that cause the patient to have difficulty breathing. Surgery can also be done to alleviate the complications of muscular dystrophy, such as heart problems and difficulty swallowing.

Complications of Muscular Dystrophy

Muscular dystrophy can cause a number of health complications, such as:

  • Difficult to walk
  • Difficulty moving the arm
  • Shortening of the muscles or tendons around the joint
  • Respiratory disorders
  • Scoliosis
  • Heart disorders
  • Difficulty swallowing, which risks causing choking and causing aspiration pneumonia
  • Lung infection, such as pneumonia

Prevention of Muscular Dystrophy

Muscular dystrophy is a condition that cannot be prevented. Therefore, immediately do an examination when complaints of muscular dystrophy appear so that this condition can be checked and dealt with earlier.

For muscular dystrophy sufferers, follow every recommendation given by the doctor and do regular check-ups. That way, his health condition can be monitored.

Not only that, there are several other efforts that can be made to prevent the worsening of muscular dystrophy symptoms, namely:

  • Consume a balanced nutritious diet , including fruits and vegetables
  • Drink enough water to prevent dehydration and constipation .
  • Exercise regularly
  • Quit smoking, to prevent lung and heart problems
  • Maintain an ideal weight
  • Get the flu and pneumonia vaccine

If you or your partner has a family member who suffers from muscular dystrophy, it is best to do genetic screening before planning a pregnancy. The purpose is to prevent the risk of children getting muscular dystrophy.

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