Muscular Dystrophy, Causes, Diagnosis, Treatment, Prevention, Complications
Muscular dystrophies are a group of diseases that cause muscles to become weak, and to rapidly lose density and function. Muscular dystrophy affects all age groups, but in most cases it affects children, especially boys.
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| Muscular Dystrophy, Causes, Diagnosis, Treatment, Prevention, Complications |
Muscular dystrophy is a rare disease that generally runs in families. Symptoms of this disease can be mild, but get worse over time. In severe cases, people with 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 disorders, while muscle atrophy occurs due to loss of muscle mass due to long periods of disuse.
Causes of Muscular Dystrophy
The cause of muscular dystrophy is a genetic disorder or mutation (change) in a gene whose job is to regulate the function and form the structure of the muscles. The gene mutation causes disturbances in the production of proteins that the body needs to build muscles and maintain muscle function properly.
Muscular dystrophy is more common in children, especially boys. This disease can run in families with similar diseases. However, muscular dystrophy can also occur randomly and suddenly even though there is no history of the disease or inherited genes in the family.
Symptoms of Muscular Dystrophy
Symptoms of muscular dystrophy can be different for each patient. However, the symptoms of muscular dystrophy generally cause weakness in the muscles that get worse over time.
Symptoms experienced by sufferers of muscular dystrophy can be distinguished by type. The following are types of muscular dystrophy and accompanying symptoms:
1. Duchenne muscular dystrophy
Duchenne muscular dystrophy is the most common type. Most of them are boys, but girls can also have Duschenne muscular dystrophy with mild symptoms.
Duchenne muscular dystrophy symptoms usually appear when children are 5 years old. Weak muscles usually start from the legs and upper arms. After that, health problems appeared in other parts of the body, including the heart, lungs and spine.
Duchenne muscular dystrophy symptoms include:
- Difficulty walking
- Falls often
- Difficulty getting up from a sitting or sleeping position
- Bad posture
- Thinning of bones
- Muscle pain and stiffness
- Scoliosis
- Learning disorders
- It's hard to breathe
- Difficult to swallow
- 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's muscular dystrophy appear in the age range of 11–25 years, which is marked by weakening of the muscles around the legs and arms.
The following are the symptoms of Becker muscular dystrophy:
- Walk on tiptoe
- Falls often
- Muscle cramp
- Hard to stand
3. Congenital muscular dystrophy (congenital)
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 a child's motor function that is not developed.
Congenital muscular dystrophy symptoms include:
- Weak muscles
- Unable to sit or stand without assistance
- Unable to control limbs
- Scoliosis
- Deformity of the feet
- Difficult to swallow
- Impaired vision
- Speech disorder
- Intellectual disorder
- Respiratory disorders
4. Myotonic muscular dystrophy
Symptoms of myotonic dystrophy usually appear between the ages of 20 and 30. 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 include:
- The face looks sagging, thin, and has a sharp chin (hatchet face)
- Neck looks thin like the neck of a swan so hard to move
- Difficult to swallow
- Early baldness in the front of the head
- Impaired vision
- Weight loss
5. Facioscapulohumeral muscular dystrophy
Facioscapulohumeral symptoms appear in adolescence. Facioscapulohumeral affects the muscular parts of the face, shoulders and upper arms.
Symptoms of this type of muscular dystrophy can include:
- Difficulty chewing or swallowing
- Shoulders become slanted
- Abnormal mouth shape
- The shoulders look like wings
6. Limb-girdle muscular dystrophy
Symptoms of this type appear in the age range from childhood to adolescence. Usually, the initial symptoms of Lim-girdle muscular dystrophy occur around the shoulders and hips, but they can also appear on the legs and neck.
Some of the symptoms of Lim-girdle muscular dystrophy are:
- Hard to stand
- Hard to walk
- Difficulty carrying heavy items
- Easy to fall and trip over
7. Oculopharyngeal muscular dystrophy
Symptoms of oculopharyngeal muscular dystrophy generally appear around the age of 40. This type of muscular dystrophy makes sufferers feel weak in the muscles of the face, neck and shoulders. The symptoms experienced can include:
- Drooping eyelids
- Difficult to swallow
- Voice change
- Vision problems
- Heart problems
- Hard 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 forearms, hands, calves and feet. Distal muscular dystrophy can also affect the respiratory system and heart muscle.
Symptoms of distal muscular dystrophy include loss of movement and difficulty walking.
9. Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy usually begins in childhood and affects boys more than girls. Emery-Dreifuss muscular dystrophy generally affects the muscles in the upper arms and lower legs.
Some of the symptoms that can be experienced when suffering from Emery-Dreifuss muscular dystrophy are:
- Weakness in the muscles of the upper arms and lower legs
- Shortening of the muscles in the spine, neck, ankles, knees and elbows
- Respiratory disorders
- Heart problems
When to see a doctor
Immediately see a doctor if you experience the symptoms mentioned earlier, especially if you start to fall frequently, have difficulty sitting and standing, or your child has developmental delays.
If you or your partner has a family that suffers from muscular dystrophy, it is advisable to do genetic counseling when planning a pregnancy. If you have been diagnosed with muscular dystrophy, follow the therapy given by the doctor and carry out periodic checks so that your condition is monitored.
Diagnosis of Muscular Dystrophy
The doctor will ask questions and answers about complaints and medical history of the patient and his family. After that, the doctor will carry out a thorough examination, including a neurological examination.
Nerve examination aims to determine disorders of the nervous system, detect muscle weakness, test reflexes and coordination, and check muscle contractions.
To confirm the diagnosis, the doctor will carry out several supporting examinations, such as:
- Blood test, to measure levels of the enzyme creatine kinase, which is an enzyme that the body releases into the bloodstream when muscles are impaired
- Muscle biopsy, to check for abnormal cell or tissue growth and rule out muscle disorders caused by other conditions
- DNA test, to detect gene abnormalities or mutations that can cause muscular dystrophy, one of which is the dystrophin gene
- Electrocardiogram, to measure and record the electrical activity of the heart
- Pulmonary function tests, to identify and detect disorders of the lungs
- Electromyography, to measure the electrical activity of the muscles, to differentiate muscular dystrophy from other neurological disorders
- MRI or ultrasound, to check muscle mass
Muscular Dystrophy Treatment
Muscular dystrophy is a condition that cannot be cured. Existing treatments are limited to alleviating symptoms, maximizing muscle function, and preventing worse conditions from occurring.
The following is an explanation of several treatment methods for muscular dystrophy:
Drugs
Some medicines that doctors can prescribe to treat 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 the breakdown of muscle cells
- ACE inhibitors or beta blockers, to treat heart problems caused by muscular dystrophy
Therapy
Several 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 patient independence
- Speech therapy, to make it easier for the patient to speak if his facial muscles are weakened
- Respiratory therapy, to help the patient in breathing
In addition, patients with muscular dystrophy can be given assistive devices, such as canes or wheelchairs, to help with their mobility or activities.
Operation
Surgery for muscular dystrophy aims to repair joints and disorders of the spine that make it difficult for the patient to breathe. Surgery can also be done to relieve complications of muscular dystrophy, such as heart problems and difficulty swallowing.
Muscular Dystrophy Complications
Muscular dystrophy can cause a number of health complications, such as:
- Hard to walk
- Difficulty moving the arm
- Shortening of the muscles or tendons around the joint
- Respiratory disorders
- Scoliosis
- Heart problems
- Difficulty swallowing, which poses a risk of choking and aspiration pneumonia
- Lung infections, 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 examined and treated early.
For sufferers of muscular dystrophy, follow every recommendation given by the doctor and carry out periodic checks. That way, his health condition can be monitored.
Not only that, there are several other efforts that can be made to prevent worsening of the symptoms of muscular dystrophy, namely:
- Eat a balanced nutritious diet, including fruits and vegetables
- Drink enough water, to prevent dehydration and constipation (constipation)
- Exercise regularly
- Stop smoking, to prevent disorders of the lungs and heart
- Maintain ideal body weight
- Undergoing flu and pneumonia vaccines
If you or your partner has family members who suffer from muscular dystrophy, it's best to do a genetic screening before planning a pregnancy. The aim is to prevent the child's risk of developing muscular dystrophy.
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