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Detailed Information About Muscular Dystrophy

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Detailed Information About Muscular Dystrophy

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A muscular dystrophy is a group of genetic muscular disorders which causes progressive muscle weakness and degeneration. Read the article below.

Medically reviewed by

Dr. Arun Kaushik. R

Published At September 4, 2019
Reviewed AtOctober 5, 2023

What Is Muscular Dystrophy?

A group of diseases resulting in muscle mass loss, which eventually causes loss of strength, is called muscular dystrophy. This is caused due to the lack of a protein called dystrophin, which is needed for healthy muscle. There are various types of muscular dystrophy, and each type affects different age groups. There is no known cure for this disease; medications, physical therapy, and surgery might help manage symptoms and slow the progression. The prognosis depends on the type and severity of the illness. Most patients are not able to walk eventually and require assistance. Muscular dystrophy commonly affects young boys more than girls.

What Are the Different Types of Muscular Dystrophy?

There are more than 30 types of muscular dystrophies. However, here are some most common types:

Duchenne Muscular Dystrophy (DMD) - Here, the muscle grows smaller and weaker over time, and it most commonly affects boys between the ages of two and six. It involves the arms and spine and results in deformities. Children with Duchenne muscular dystrophy die between 15 to 25 years of age.

Myotonic or Steinert's Disease - It causes prolonged spasms or stiffening of muscles after use, which gets worse in cold climates. It is the most common type of adult muscular dystrophy and can affect both men and women. It rarely affects infants or can appear at any time. This type can affect the CNS (central nervous system), heart, and glands in the body, and it causes decreased life expectancy.

Facioscapulohumeral (FSHD) - This type of muscular dystrophy affects the eyes, mouth, and shoulder muscles. The onset occurs in teenage but can also be seen during childhood or as late as 40 years. It progresses slowly, and it can be mild to disabling. However, in more than 50 % of cases, patients live a normal life span and can walk throughout their lives.

Becker - It is a milder form of Duchenne muscular dystrophy. The symptoms develop between the ages of 2 and 16 and progress slowly. It is exclusively seen in young boys and can affect the heart. These patients live approximately up to 30 to 35 years.

Limb-girdle - It affects people in their teens to early adulthood and can be seen in both males and females. It causes progressive weakness that spreads to the hips, shoulders, and legs. Patients lose the ability to walk within 20 years and live up to 35 to 40 years.

Emery-Dreifuss - It is a rare form of muscular dystrophy that affects mostly boys from childhood to early teenage. It results in weakness in the muscles of the shoulders, upper arms, and lower legs. It can cause heart problems, which can be fatal.

Congenital - This type of muscular dystrophy is seen in newborns. It can affect both boy and girl babies, and it progresses slowly. The two forms are:

  • Fukuyama - It causes problems in the brain and seizures.

  • Congenital Muscular Dystrophy With Myosin Deficiency - This results in the shrinking of muscles, which causes joint problems.

Oculopharyngeal - It results in weakness in the muscles of the eyes and throat, which later causes difficulty swallowing. It affects men or women above 40 years of age.

Distal - It can affect both men and women and results in weakness of hands, arms, and feet. It is often mild and progresses very slowly.

What Are the Signs and Symptoms of Muscular Dystrophy?

Muscular dystrophy has various signs and symptoms depending on the type of muscular dystrophy.

Following are the signs and symptoms in DMD:

  • Weakness in the upper legs and pelvis.

  • Balancing problem.

  • Fall a lot.

  • Trouble getting up from a sitting position.

  • Waddling gait.

  • Difficult to run.

  • Excess fat accumulation in the calf muscles.

Myotonic or Steinert's Disease - It results in an inability to relax muscles after a sudden contraction, so the symptoms are,

  • Thin and elongated face and neck.

  • Problems swallowing.

  • Eye and vision problems like drooping eyelids and cataracts.

  • Baldness.

  • Unintentional weight loss.

  • Profuse sweating.

  • Drowsiness.

  • Heart problems.

  • Menstrual irregularities.

  • Infertility.

Facioscapulohumeral (FSHD) - As this affects the muscles of the eyes and mouth, the symptoms include,

  • Difficulty opening and shutting the eyes.

  • Inability to smile.

  • Shoulders appear slanted, and shoulder blades appear winged due to muscle wasting.

  • Trouble swallowing.

  • Problems with speaking.

  • Hearing problems.

  • Swayback spine curvature.

Becker - It makes the patient,

  • Fall a lot.

  • A problem with getting up.

  • Muscle cramps.

  • Walk on their tiptoes.

Limb-girdle - As it results in progressive weakness of the muscles of the hip, shoulders, and legs, it causes patients to,

  • Fall often.

  • Problems with climbing stairs and getting up.

  • Waddling gait.

  • Develop a rigid spine.

Emery-Dreifuss - It causes weakness in the shoulders, upper arms, and lower legs, so it results in,

  • Shortening of muscles around joints in the spine, ankles, knees, and elbows.

  • Elbows are getting locked in a flexed position.

  • Shoulder deterioration.

  • Rigid spine.

  • Walk on their tiptoes.

  • Mild weakness in facial muscles.

Congenital - This type of muscular dystrophy causes symptoms like,

  • Problems with motor function and muscle control.

  • Chronic shortening of muscles around joints.

  • Scoliosis.

  • Breathing and swallowing difficulties.

  • Foot deformities.

  • Intellectual disabilities.

Oculopharyngeal -

  • Drooping eyelids.

  • Problems swallowing.

  • Heart problems.

Distal -

  • Limited or no hand movements.

  • Problems in extending fingers.

  • Inability to walk or climb stairs.

What Are the Causes of Muscular Dystrophy?

Dystrophin, a protein produced by specific genes, protects the muscles from damage. In muscular dystrophy, mutations on the X chromosome prevent the body from producing dystrophin. Different mutations are seen in different types of muscular dystrophies. Dystrophin helps anchor various components of muscle cells together and links them all to the outer membrane. In its absence, this process is affected, which disrupts the outer membrane. Unfortunately, this also weakens and damages the muscle cells.

The symptoms are severe if dystrophin is almost absent. The largest known gene in humans is the gene coding for dystrophin, and more than 1,000 mutations in this gene have been identified.

What Are the Complications of Muscular Dystrophy?

The complications associated with muscular dystrophy are:

  • Inability to walk.

  • Shortening of muscles around joints.

  • Breathing difficulties, which might need ventilator support.

  • Scoliosis (curved spine).

  • Reduced efficiency of heart muscles.

  • Difficulty swallowing.

How Is Muscular Dystrophy Diagnosed?

Your doctor might suggest you undergo the following tests after conducting thorough medical and physical examinations.

Enzyme Assay - As damaged muscles produce creatine kinase (CK), elevated CK in the absence of muscle injury is used to diagnose this condition.

Electromyography - The changes in the electrical activity of the muscles as the muscles contract and relax can also be used as a diagnostic test.

Genetic Testing - To screen mutations in some of the genes that cause muscular dystrophy.

Muscle Biopsy - A biopsy from the muscle can help differentiate muscular dystrophies from other muscle disorders.

Electrocardiography and Echocardiogram - To monitor the heart.

Lung Monitoring - To check lung function.

What Are the Treatment Modalities for Muscular Dystrophy?

Treatment aims to prevent or reduce symptoms, as there is no cure. The treatment options include:

Medications:

Eteplirsen.

Corticosteroids - Prednisone.

Heart medications - Angiotensin-converting enzyme (ACE) inhibitors and beta blockers.

Therapy:

Stretching Exercises - As this disease can restrict the flexibility and mobility of joints, stretching can help to keep joints flexible.

Low-impact Aerobic Exercise - Exercises like walking, water aerobics, and swimming can help maintain strength and mobility.

Braces - It slows the progression of contractures by keeping the muscles and tendons stretched.

Walking Aids - Wheelchairs and walkers can help.

Ventilators - To help with breathing.

Surgery:

Surgery might be needed to correct spinal curvature.

Conclusion:

A muscular dystrophy is a group of disorders that slowly progresses and weakens the muscular tone of the body. The symptoms and complications caused by muscular dystrophy depend on the type and severity of the disease. Though there is no cure for the disease, certain medications and therapy can improve the quality of life for an affected individual.

Frequently Asked Questions

1.

What Is Duchenne muscular dystrophy?

Duchenne muscular dystrophy is the most common type of muscular dystrophy. It is caused by mutations in the gene that encodes the protein dystrophin. Here, this protein is almost absent, so the symptoms are severe. It affects boys more commonly than girls.

2.

How common is muscular dystrophy?

Muscular dystrophy is a very rare condition, amongst which, Duchenne muscular dystrophy is the most common type. It affects approximately 1 in every 5000 to 7000 males between the ages of 5 and 24 years.

3.

How do you get muscular dystrophy?

Muscular dystrophy results from mutations on the X chromosome, as it prevents the body from producing dystrophin. Dystrophin is a protein produced by specific genes, which protects the muscles from damage.

4.

How long can you live with muscular dystrophy?

The prognosis and life expectancy of a person suffering from muscular dystrophy depend on the type and severity of the disease. People with milder symptoms live a normal life with a few disabilities. In other severe forms that leads to severe muscle wasting, weakness, and heart problems, patients usually die in the early or late 20s.

5.

Is muscular dystrophy painful?

Yes. Muscular dystrophy can result in painful and stiff muscles and joints.

6.

Is muscular dystrophy progressive?

Yes. Muscular dystrophy is a progressive disease. It starts with muscle weakness, which can become worse and result in muscle wasting and loss of mass.

7.

Does muscular dystrophy affect the heart?

Yes, some forms of muscular dystrophy do affect the heart. It causes changes in the heart muscles, which results in arrhythmias (abnormal heart rhythm), congestive heart failure, and cardiomyopathies.

8.

Does muscular dystrophy affect your brain?

The myotonic and Fukuyama types of muscular dystrophy are known to affect the brain and central nervous system. They can result in memory problems, mental retardation, and seizures.

9.

Can females get muscular dystrophy?

Girls are usually carriers of the gene that causes muscular dystrophy, but generally do not produce any symptoms.

10.

Does Muscular dystrophy run in families?

Yes, it does run in families. If one or both parents have this disease or if the mother is a carrier, it is likely that the child also has muscular dystrophy.
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Dr. Arun Kaushik. R
Dr. Arun Kaushik. R

General Practitioner

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