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.