Duchenne/Becker Muscular Dystrophy Gene Mutation - Test, Procedure & Cost

Muscular dystrophies are a group of genetic conditions which exhibit progressive muscle weakness and wasting.

The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart muscle. It is most common in males.

Cause of this Dystrophy:

Mutations in the DMD gene cause Duchenne and Becker forms of muscular dystrophy.

The DMD gene provides instructions for making a protein called dystrophin. This protein is present in skeletal and cardiac muscle, where it helps stabilize and protect muscle fibers.

Signs and Symptoms

Different mutations in the same gene cause them.

These conditions differ in their

• Severity, age, and on, t 
• Rate of progression.
• In boys with Duchenne muscular dystrophy, muscle weakness tends to appear in early childhood and worsens rapidly.
• Affected children may have delayed motor skills, such as sitting, standing, and walking.
• Duchenne and Becker's forms of muscular dystrophy are associated with a heart condition called cardiomyopathy.
• This heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently. In both Duchenne and Becker muscular dystrophy, cardiomyopathy typically begins in adolescence

Why is it done?

This is done to determine whether a patient’s weakness results from a problem in the muscles or in the nerves that control them.  The leading cause of liability that looks like a muscle problem occurs due to muscle-controlling nerves.

How is it done?

During the diagnostic process, physicians often advise a particular blood test called a CK level. CK stands for creatine kinase. It is an enzyme that leaks out of the damaged muscle.

• When elevated CK levels are found in a blood sample, it usually indicates that muscle is being destroyed

Duchenne and Becker muscular dystrophies are commonest inherited neuromuscular diseases.

• Its genetic diagnosis is not easily made because of the large size of the dystrophin gene

How is Becker muscular dystrophy diagnosed?

The main challenge is determining whether the weakness is in the muscles or motor neurons, which control these muscles.

The patients should be examined physically, and a history of signs and symptoms should be considered as the first step. This helps your doctor to note the pattern of progression. Diagnostic tests for Becker muscular dystrophy include:

• Blood tests
• Muscle biopsy
• Electromyogram
• Electrocardiogram