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Muscular dystrophy: everything you need to know

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What is muscular dystrophy?

Muscular dystrophy (abbreviated as MD) is a group of hereditary diseases that lead to the breakdown of the body’s own muscles, which are replaced by adipose tissue. This leads to a gradual weakening of the muscles, making movement difficult. While some muscular dystrophies occur in children, others only occur in adults.

Types of muscular dystrophy

The different types of diseases are:

  • Duchenne dystrophy: The most serious type of condition that usually develops in children between the ages of 3 and 6 years. It occurs when the muscles produce abnormally low levels of a specific muscle protein called dystrophin. This in turn weakens the membranes around the muscles, which leads to muscle tears and, as a result, to the death of the muscle fibers. Boys are more likely than girls to develop this condition, although women can pass it on to their children.
  • Becker-type muscular dystrophy: Similar to Duchenne MD, male children are also affected by this type of disease due to decreased dystrophin production. What sets it apart from the previous type of condition is that the symptoms of Becker-type MD are milder and the condition is comparatively rare. Some people can develop a condition that is a combination of these two types of illness.
  • Myotonic dystrophy: This is the most common type of MD and can develop in both men and women. Symptoms often begin in adolescence.
  • Limb-girdle muscular dystrophy: This form of MD develops in the hip and shoulder muscles. This genetic disorder can be inherited by both men and women.
  • Facioscapulohumeral muscular dystrophy: This form of MD originates in the face and shoulder muscles and affects both men and women. It can develop among several members of the same family. However, the intensity of symptoms can vary so widely that people are unaware of the muscular abnormalities.
  • Congenital muscular dystrophy: Some types of this MD can affect mental abilities.
  • Emery tripod dystrophy: This affects the upper arm and lower leg muscles and often leads to cardiac dysfunction. Some forms of congenital muscular dystrophy are associated with decreased mental function.

Muscular dystrophy symptoms

Symptoms vary widely between patients, depending on the type of muscular dystrophy that affects them. Let’s discuss the possible symptoms of the disease.

  • Often trip or fall
  • Difficulty climbing stairs
  • Clumsiness
  • Difficulty jumping and hopping
  • Walk on toes
  • Weakness in the shoulders, hips, face and / or arms
  • Pain in the leg
  • Loss of reflexes
  • Thinning of the bones
  • Bad posture
  • Inability to open or close your eyes
  • Development of large calves through fat accumulation
  • Heart or lung disease
  • Scoliosis, or a condition in which the spine is bent to one side

Causes of Muscular Dystrophy

The most common causes of the disease are:

Genetic disorder: There are certain genes that are responsible for producing proteins like dystrophin that protect muscle fibers. If any of these genes are definite, it is causing MD. Every type of disease is caused by a genetic mutation associated with this form of the disease. Most of these mutations are inherited.

Inherited: People with a family history of the disease are comparatively more prone to developing MD than people who do not have a genetic history.

Diagnosis of muscular dystrophy

Physical examination: The doctor is expected to give the patient a thorough examination to analyze the symptoms. He / she will also likely inquire about the patient’s genetic history. The symptoms of MD are similar to those of various other medical conditions. Hence, medical tests need to be done to confirm the presence of MD.

Diagnostic test: Below are the likely tests the doctor may recommend:

  • Muscle biopsy: This test analyzes the muscles under a microscope to check for abnormalities.
  • Electrocardiogram (EKG): This medical test helps assess heart conditions related to heart muscles and irregular heartbeat.
  • Electromyogram: This test can detect the presence of muscle tissue breakdown.
  • Blood tests: Blood tests to measure muscle enzyme levels may be prescribed.
  • Genetic blood test: Such tests precisely evaluate the inherited anomalies in the genome.

Treatment of muscular dystrophy

Treatment for muscular dystrophy focuses on preventing the disease from getting worse, although there is often no way to prevent the disease from getting worse. It is a lifelong treatment because there is no cure. Treatment for muscular dystrophy differs between patients as it depends on age, the part of the body affected, and various other perimeters.

The likely treatments for muscular dystrophy are:

  • physical therapy: This can be recommended to strengthen the weak muscles and control the rate of muscle breakdown.
  • Medication: Medications such as deflazacort and corticosteroids can be prescribed as a temporary measure to prevent muscle breakdown from worsening. This is especially true for boys diagnosed with Duchenne MD.
  • Psychotherapy and nutritional therapy: Patients with MD can be prescribed age-appropriate nutritional therapies. This helps in preventing obesity, which can worsen the medical condition by putting strain on your already weak muscles. In patients with this condition, obesity often increases due to restricted mobility.
  • rails: Special aids such as splints and orthotics may have to be used to provide the necessary support for the muscles that are dissolving.
  • surgery: Surgery may be recommended for scoliosis and other related diseases.
  • Pacemaker: Patients whose heart muscles are affected by the disease will have their heart and heartbeat checked at regular intervals. In such cases, a pacemaker can be installed to ensure a normal heart rhythm.

Dr. Roopa K G | Advisor – Neurologist | Sahyadri Narayana Multispecialty Hospital Shimoga

Thank You For Reading!


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