What is muscle disease?

By | 24 May 2021

Muscle disease is the name given to a group of diseases that cause progressive weakness and loss of muscle mass. Muscle diseases are disorders that usually occur at an early age due to mutations (disruptions) in genes, and in some cases, symptoms worsen and progress.

What is muscle disease (Dystrophy)?

In the medical language, muscle diseases are called muscular dystrophy. The word dystrophy was derived from the combination of the ancient Greek words tooth, which means bad, sickly, and trophy, which means nutrition, development. There is no cure for muscular dystrophies. But medications and therapies can help manage symptoms and slow the course of the disease. How muscular dystrophy will affect you or your child depends on the type. Most people’s conditions worsen over time, and some people may lose the ability to walk, speak, or look after themselves. However, this does not happen to everyone. Some people with muscle disease may live with mild symptoms for years.

There are more than 30 types of muscular dystrophy, and each of these dystrophies can differ in the following characteristics:

  • Genes that cause disease,
  • Affected muscles,
  • The age at which symptoms first appear,
  • The rate at which the disease progresses.

The most common muscular dystrophies can be listed as follows:

  • Duchenne muscular dystrophy (DMD): This is the most common form of muscular dystrophy. It mainly affects boys and begins between the ages of 3 and 5.
  • Becker muscular dystrophy: Similar to Duchenne muscular dystrophy, but symptoms are milder, age of onset is later. Symptoms of the disease affecting boys appear between the ages of 11 and 25.
  • Myotonic muscular dystrophy: It is the most common muscle disease in adults. Individuals with myotonic dystrophy have difficulty loosening their muscles after contracting (such as loosening their hands after shaking hands). It can affect both men and women, and symptoms usually begin to appear in their 20s. As it is transferred from parent to child, the age of onset of the disease gradually decreases. It has two different types called Type 1 and Type 2 within itself.
  • Congenital muscular dystrophy: It starts from birth or within the first two years. It can be seen in both sexes. While some forms progress slowly, some forms are milder.
  • Limb-Girdle muscular dystrophy with limb involvement: It is a disease that usually involves the muscles around the shoulder and hip and is observed in late childhood or early 20s.
  • Facioscapulohumeral muscular dystrophy: Affects facial muscles, shoulders, and upper arms. It can affect people of all ages, from teenagers to adults. It usually progresses slowly.
  • Distal muscular dystrophy: Affects the muscles of the arms, legs, hands, and feet. It is usually observed between the ages of 40 and 60.
  • Oculopharyngeal muscular dystrophy: It usually starts in the 40s or 50s. It causes weakness in the face, neck, and shoulder muscles, drooping eyelids (ptosis), followed by difficulty swallowing (difficulty swallowing).
  • Emery-Dreifuss muscular dystrophy: It usually affects men, it often starts around the age of 10. It causes heart problems along with muscle weakness.

Muscular dystrophy inheritance

Muscular dystrophy can be inherited or it can be caused by a mutation in one of the genes. This is a rare condition. Mutations that cause muscular dystrophy are observed in genes encoding proteins that keep muscles healthy and strong. For example, those with Duchenne or Becker muscular dystrophies are under-produced, a protein called dystrophin, which strengthens muscles and protects against injury.

Types of muscular dystrophies observed only in males are carried on the X (sex) chromosome. The types observed in women and men are carried on the chromosomes without sex chromosomes.

What are the symptoms of muscle disease?

In most muscular dystrophies, symptoms begin to appear during childhood or adolescence. In general, the symptoms can be listed as follows:

  • Falling frequently
  • Having weak muscles,
  • Muscle cramps,
  • Difficulty getting up, climbing stairs, running or jumping,
  • Walking on tiptoes,
  • Having a curved spine (scoliosis)
  • Drooping eyelids,
  • Heart problems
  • Trouble breathing or swallowing,
  • Vision problems,
  • Weakness in facial muscles.

How is muscle disease diagnosed?

The specialist physician first performs a physical examination to diagnose muscular dystrophy. He then takes a detailed medical history of the family from the patient. Many tests may be ordered in the diagnosis of muscular dystrophies. Some of these can be listed as follows;

  • Electromyography or EMG: Small needles called electrodes are placed in different parts of the body and the patient is asked to stretch or relax their muscles slowly. Electrodes are connected by wires to a machine that measures electrical activity.
  • Muscle biopsy: A small piece of muscle tissue is removed using a needle. This piece is examined in a lab to determine which proteins are missing or damaged. This test can show the type of muscular dystrophy.
  • Muscle strength, reflexes, and coordination tests: These tests help doctors rule out other diseases related to the nervous system.
  • Electrocardiogram or EKG: It measures the electrical signals from the heart and determines how fast the heart is beating and whether it has a healthy rhythm.
  • Other imaging techniques: Imaging methods such as MRI and ultrasound can be used to diagnose muscle diseases.
  • Blood test: Doctors may also request a blood sample to look for genes that cause muscular dystrophy. Genetic tests are important not only to help diagnose this condition but also to people who are planning to start a family, with a history of the disease. The health of the children needs to be born to discuss what the genetic test results mean with the specialist doctor or genetic counselor.

How is the treatment for muscle disease?

Currently, there is no cure for muscular dystrophies. However, muscular dystrophy treatment has options that can improve symptoms and increase the patient’s quality of life. Some treatment methods that increase the quality of life of the patient in muscular dystrophies are as follows;

  • Physical therapy: Different exercises are used to keep muscles strong and flexible.
  • Speech therapy: Patients with weak tongue and facial muscles can be taught easier ways of speaking with the help of speech therapy.
  • Respiratory therapy: In patients who have difficulty breathing due to muscle weakness, ways of facilitating breathing or use of respiratory support machines are shown.
  • Surgical treatments: Surgical treatments can be used to reduce muscular dystrophy complications such as heart problems or trouble swallowing.

Medication treatments can also help relieve symptoms caused by muscle diseases. Some medications used in the treatment of muscle diseases are;

  • Eteplirsen: Duchenne is one of the drugs approved for the treatment of muscular dystrophy. It is an injection drug that helps treat a specific mutation of the gene that causes DMD in individuals. The drug, which is thought to increase the production of dystrophy that will improve muscle function, is effective in 1% of cases.
  • Anti-seizure drugs (antiepileptic): Reduces muscle spasms.
  • Blood pressure medications: Helps with heart problems.
  • Drugs that suppress the body’s immune system: Drugs in this group can slow the damage of muscle cells.
  • Steroids such as prednisone and deflazacort: Slow muscle damage and can help the patient breathe better. They can cause serious side effects such as weak bones and a high risk of infection.
  • Creatine: Creatine, a chemical normally found in the body, can help provide energy to muscles and increase muscle strength in some patients.


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