Muscular dystrophy: symptoms, causes and treatment

Definition

What is muscular dystrophy?

Muscular dystrophy or muscular dystrophy is a term that refers to a group of muscle ailments. Slowly, the muscles will get weaker until they lose their strength and can't function properly.

Muscle damage and weakness is caused by a lack of a protein called dystrophin, a protein essential for normal muscle function. Patients with this disease usually have difficulty walking, sitting, swallowing, and making movements that require muscle coordination.

Muscular dystrophy is a congenital birth defect that is generally hereditary and causes damage to the muscles over time.

There are more than 30 types of muscle diseases that are included in dystrophy. The following are the types that are most often encountered:

• Duchenne muscular dystrophy (DMD).
• Landouzy-dejerine muscular dystrophy.
• Myotonic muscular dystrophy (MMD).

How common is this condition?

Muscular dystrophy is a fairly rare condition. It is estimated that 1 in 3,500 newborns and children develop muscular dystrophy.

Most cases are found in childhood, especially in boys. Symptoms of some types of muscular dystrophy do not appear until the child reaches adulthood.

This disease can be overcome by controlling the existing risk factors. To find out more information about the condition of the child with this condition, please consult further with the doctor.

Signs & symptoms

What are the signs and symptoms of muscular dystrophy?

The signs and symptoms of muscular dystrophy depend on what type of muscle disease your child has. Generally, all parts of the muscles can be affected or only certain parts of the muscles are affected, such as the areas around the hips, shoulders, or face.

The following are signs and symptoms of muscular dystrophy ormuscular dystrophy if divided by type:

1. Duchenne muscular dystrophy (DMD)

DMD is the most common type of muscle disease, the majority of sufferers will lose the ability to walk by the age of 12 and require a breathing apparatus.

The signs and symptoms of this type of muscular dystrophy are more common in boys This is:

• Difficulty walking.
• Reduced body reflexes.
• Difficulty standing on your own.
• Bad posture.
• Thinning bones.
• Curved spine (scoliosis).
• Mild intelligence impairment.
• Difficulty breathing.
• Cannot swallow properly.
• Weak heart and lungs.

2. Landouzy-Dejerine muscular dystrophy

This condition is a weakening of the facial muscles, thighs, arms and legs. This type of muscle disease progresses slowly and can progress from mild symptoms to severe symptoms (paralysis).

Some of the most common signs and symptoms include:

• Difficulty chewing or swallowing food.
• Slanted shoulders.
• The mouth doesn't look proportional.
• The part sticking out of the shoulder, like a wing.

In rare cases, sufferers of the type dystrophyLandouzy-Dejerinealso have hearing and breathing problems.

This condition takes a long time to show the first symptoms. Sometimes, sufferers will experience symptoms in their teens, but it is not uncommon for new symptoms to appear when patients enter their 40s.

3. Myotonic muscular dystrophy (MMD)

MMD, also known as Steinert's disease or myotonic dystrophy, causes the muscles to not relax again after contractions (myotonia).

Several parts of the body can be affected by the type of muscular dystrophy or muscular dystrophy is as follows:

• Facial muscles.
• Central nerve system.
• Adrenal glands.
• Heart.
• Thyroid.
• Eye.
• Digestive tract.

Symptoms usually appear first on your face and neck. Some symptoms of muscular dystrophy or muscular dystrophy these are as follows:

• The muscles on the face appear to fall or relax.
• Difficulty lifting your neck due to weak neck muscles.
• Difficulty swallowing
• The eyelids appear drooping or sleepy (ptosis).
• Thinning of the hair at the front of the head.
• Vision deteriorates.
• The child loses weight.
• Excessive sweating.

This condition is at risk of causing impotence and testicular atrophy in men. Meanwhile, sufferers of female sex may experience irregular menstrual cycles, as well as the risk of infertility.

4. Becker muscular dystrophy

Becker's dystrophy is almost identical to that of Duchenne's, but not so severe. This condition is also more common in boys.

The symptoms of muscular dystrophy usually first appear when the patient is 11-25 years of age, and include:

• Walk on toes (tiptoe).
• Often falls.
• Muscle cramp.
• Difficulty getting up or standing off the floor.

5. Congenital muscular dystrophy

This condition usually occurs in newborns up to two years of age. The signs and symptoms that appear in babies are:

• Weakened muscles.
• Poor motor control of the body.
• Unable to sit or stand without assistance.
• Scoliosis.
• Defects in the legs.
• Difficulty swallowing
• Breathing problems.
• Visual disturbances.
• Trouble speaking.
• Impaired cognitive abilities.

6. Limb-girdle muscular dystrophy

This type of muscular dystrophy causes muscles to weaken and lose mass. Usually, this condition attacks your shoulders and hips first, although sometimes it can occur first in your legs or neck.

You may find it difficult to get up from a sitting position, walk up and down stairs, and lift heavy weights.

7. Oculopharyngeal muscular dystrophy (OPMD)

OPMD usually causes muscle weakness in the face, neck, and shoulders. Signs of this condition include:

• Dropped eyelids.
• Difficulty swallowing
• Change in voice.
• Vision problems.
• Heart problems.
• Difficulty walking normally.

8. Distal muscular dystrophy

This dystrophy is also known as distal myopathy. This condition most commonly affects the muscles in the:

• Forearm.
• Hand.
• Calf.
• Feet.

9. Emery-Dreifuss muscular dystrophy

Type dystrophyEmery-Dreifuss also appeared for the first time when the patient was a child. Common signs and symptoms are:

• The muscles of the upper arms and lower legs are weakened.
• Breathing problems.
• Heart problems.
• Muscle shortens in the spine, neck, ankles, knees and elbows.

There are a variety of signs and symptoms that are not listed above. If you want to know some things related to these symptoms, you can immediately consult your doctor.

When to see a doctor?

Call your doctor or come to the hospital if these symptoms do not subside or they persist.

In addition, you also need to tell the doctor if there are family members who have the same disease in order to get the right method of diagnosis and treatment.

The health condition of each person's body is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

What are the possible complications of muscular dystrophy?

Complications that may arise as a result of muscular dystrophy is as follows:

• Difficulty walking
• Limited body movement
• Breathing problems
• Scoliosis
• Heart problems
• Difficulty swallowing

Cause

What causes muscular dystrophy?

Muscular dystrophy ormuscular dystrophy is a condition that occurs as a result of a mutation or change in a gene. Each type of dystrophy has different types of mutations from one another.

These mutations can occur at conception or during embryo development. The cause of such mutations is still unknown and is still under study.

Mutations in genes that cause muscular dystrophy or muscular dystrophy this is a condition that can be genetically inherited.

In other words, this condition can be passed from parents to children, because it is a genetic disease.

Risk factors

What are the factors that increase the risk of muscular dystrophy?

Muscular dystrophy is a condition that can occur in almost anyone, regardless of age and race group. However, there are several factors that can increase a person's risk for developing this condition.

It is important for you to know that having one or more risk factors does not mean that your child will develop a disease or health condition.

In some cases, it is possible that the child may suffer from certain diseases or health conditions without any risk factors.

The following are risk factors that can trigger muscular dystrophy or muscular dystrophy:

1. Children

The incidence of this disease is more common in children.

2. Male gender

This disease, especially the type duchenne muscular dystrophy, is more common in men. If your child is male, the chances of experiencing this condition are much greater.

3. Family members suffering from muscular dystrophy

According to the Mayo Clinic, if any family member has experienced muscular dystrophy, you also have the possibility of suffering from this disease.

Even if you don't have risk factors, that doesn't mean you can't experience disabling muscle stiffness.

The above factors are for reference only. We recommend that you consult your doctor for more information.

Diagnosis & treatment

The information provided here is not a substitute for medical advice. ALWAYS consult your doctor.

What are the most common types of screening for this condition?

Basically, there are many different types of tests that can be performed to diagnose these different types of muscular dystrophy. The diagnosis made by a doctor will usually go through the following procedures:

• Find out what symptoms the patient is experiencing.
• Find out any family medical history related to muscular dystrophy.
• Perform a physical examination.

After performing these tests, the doctor may suggest further tests for the patient's muscle condition. Medical procedures to choose from include:

1. Enzyme test

Damaged muscles will produce enzymes, such as creatine kinase(CK) and get into the blood. The CK content in the blood sugar levels of patients who have never experienced trauma due to injury, will indicate muscle disorders.

2. Genetic testing

The patient will be asked to provide a blood sample, which is then examined to see if a genetic mutation in the blood is causing the muscular dystrophy.

3. Muscle biopsy

A small portion of your muscle will be removed for analysis. This part of the muscle will be examined to see if the patient has dystrophy or other muscle disease.

4. Electrocardiography or echocardiogram

This examination is used to check liver function, especially in people who are diagnosed with itmyotonic muscular dystrophy.

What are the available treatments for muscular dystrophy?

There is no known cure for various types of muscular dystrophy. However, there are several types of medication that may help relieve the symptoms experienced by the patient.

1. Use of drugs

In contrast to muscle pain that can be treated with muscle pain relievers, dystrophy symptoms can be relieved by the use of the following types of drugs:

• Corticosteroids to help muscles get stronger and slow down the progression of muscular dystrophy.
• Eteplirsen, which is a medication used to treat Duchenne's muscular dystrophy.
• Golodirsen, which is a drug that can be used to treat Duchenne's dystrophy in patients with a genetic mutation.
• Medicines for the heart, such as ACE inhibitors or beta blockers, especially if the muscular dystrophy causes damage to the heart.

2. Therapy

There are several over-the-counter therapies that can help you manage dystrophy, including:

• Stretching exercises.
• Physical exercise, such as walking and swimming.
• Use of mobility aids.
• Use of breathing apparatus.

Apart from overcoming the symptoms of dystrophy, physical exercise such as exercise is also good for maintaining healthy muscles.

3. Operations

Surgery may be needed to correct any curvature of the spine that may change and potentially cause more severe breathing problems.

Home remedies

What are some lifestyle changes or home treatments that can help control muscular dystrophy?

Here are some lifestyle changes and home remedies that can be done to treat muscular dystrophy or dystrophy muscular dystrophy:

• Stay active doing activities as usual. Too much silence such as resting in bed or sitting for long periods of time can make the disease worse.
• Follow a high-fiber, high-protein, low-calorie diet or diet.
• Learn as much as you can about MD and what can be done about it.

If you have any questions, please consult with your doctor so they can better understand the best solution to your problem.