Duchenne Muscular Dystrophy (DMD) (21 Exons)

Muscular dystrophy is a group of disorders that gradually weaken and stiffen the muscles. The most frequent kind is Duchenne Muscular Dystrophy (DMD). It is caused by a defective gene which is responsible for producing dystrophin, an important protein in muscle cells. Standing, moving, and stair climbing are difficult for individuals with Duchenne Muscular Dystrophy.   

Duchenne Muscular Dystrophy Test - Overview

The gene that produces the protein dystrophin is disrupted in people with Duchenne Muscular Dystrophy. This protein is responsible for keeping muscles strong and preventing damage.   

Regular testing can help the patients to assess their present health condition and take preventative measures.  

• Duchenne Muscular Dystrophy is more frequent in boys, but in rare cases it can affect girls too.
• Since it's tied to chromosomes that decide whether a baby is a girl or a boy, experts call it a sex-linked disorder. 
• The initial signs of Duchenne Muscular Dystrophy in children can be seen before they reach the age of six. The disorder impairs their leg muscles first; therefore, they might start walking significantly later than other youngsters of their age.  
• Duchenne Muscular Dystrophy can potentially harm the lungs, heart, and other body organs. Patients may develop more signs as they become older, such as a bent spine, stiff muscles in the legs, headaches, cognitive and memory issues, breathlessness, drowsiness, and difficulty focusing.  
• Although some people with Duchenne Muscular Dystrophy experience learning and behavioural issues, the condition does not affect their intellectual capacity.

What are the Risk Factors?   

A Duchenne Muscular Dystrophy diagnosis is imperative to assess an affected person's present state. 
Duchenne Muscular Dystrophy affects the limb muscles closest to the trunk first, then the ones farther away. It can also cause heart problems. The cardiac damage caused by Duchenne Muscular Dystrophy can become life-threatening with time, perhaps as early as the adolescent years.   
Due to Duchenne Muscular Dystrophy, the diaphragm and other muscles may weaken, making breathing difficult.  
Hence, a thorough Duchenne Muscular Dystrophy testing is necessary for accurate evaluation and treatment. 
 

Medically reviewed by Dr. S K Sahoo, Senior Consultant, General Physican/Internal Medicine, Apollo Hospitals Sector 26, Noida.

Frequently asked questions

What does the DMD test look for?

The muscular dystrophy test looks for any discrepancies in the muscle fibres and also analyses the quality of dystrophin protein in the body. The blood sample is used for a minor genetic analysis assessing the gene responsible for producing the dystrophin gene.

What are the symptoms of Duchenne muscular dystrophy?

Below are the symptoms of Duchenne muscular dystrophy that one can observe and take the DMD blood test:  Development of curvature in the spine Short and tight muscles in the lower limbs Frequent headaches due to muscle contractions Difficulty in breathing Short memory and problems in recollecting Sleepiness  Problems in concentrating on any task Frequent cramps in the muscle

What should one consider before taking the test for DMD?

If you are a parent, you must observe the following things before you opt for a Duchenne muscular dystrophy test:  The stage at which your child started walking Prevalence of symptoms related to muscular dystrophy Pattern of a child’s walking and climbing, especially on challenging roads and staircases Time taken by the child to get up from a place Physical examination of the child’s stature  Assessment of muscle weakness in the child  Medical history of the individual, such as other problems in the body

What happens during the DMD blood test?

Duchenne muscular dystrophy test is a simple blood test. The service provider cleans the puncture site and inserts a sterile syringe to draw venous blood. The provider cleans the puncture site again to ensure no infection at the site. After collecting the blood sample, the laboratory technician does a blood protein examination or genetic analysis of the model.

What happens after the muscular dystrophy test?

Below are some ways to manage the condition after confirming muscular dystrophy through a DMD blood test: Take second or third opinion from experts in the field to understand the possibilities Consult with a nutritionist to curate a personalised diet chart for the child Discuss some ways to keep your child active through physical activities or exercises In some cases, you might have to take medications such as Eteplirsen, prednisone, or deflazacort