Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness caused by an absence of the protein dystrophin. It is an X-linked recessive disorder, so it primarily affects males. Symptoms include progressive muscle weakness starting in the hips and thighs and spreading to other areas. This leads to difficulties with activities like running and jumping. Later symptoms involve respiratory and heart muscles as dystrophin is also present in cardiac and respiratory tissue. Management focuses on maintaining comfort and function through braces, wheelchairs, assisted ventilation, steroids, and pacemakers.

1. Duchenne’s Muscular
Dystrophy
Prabhnoor Singh Brar
Roll No. 79

2. INTRODUCTION
• Duchenne muscular dystrophy (DMD) is a genetic disorder
characterized by progressive muscle degeneration and
weakness.
• It is a X-linked recessive genetic disorder.
• Hence, it is much more common in males than in females.But
females act as carriers to the disease (2/3rd).
• It is due to the alterations of a protein called dystrophin that
helps keep cell membrane of muscle cells intact.

3. BACKGROUND
• DMD is caused by a mutation of the dystrophin gene, located
on the short arm of X chromosome.
• Mutation leads to a large reduction or absence of dystrophin,
a protein that provides structural integrity in muscle cells.
• The mutation could be spontaneous or be transmitted.
• Females largely act as carriers whereas males are the ones
mostly affected.Females are rarely affected.

4. SYMPTOMS
• Progressive muscle weakness due to muscle fiber death and
replacement with fat.
• Voluntary muscles are affected first, esp. the hips, pelvic
area, thighs, calves.
• Progresses to shoulders and neck, arms, respiratory muscles,
and other areas.
• Difficulty in jumping, running.
• Waddling gait
• Fatigue
• Positive Gower’s sign

5. SYMPTOMS
CARDIOMYOPATHY
• Lack of dystrophin can weaken the muscle layer in the heart
(myocardium), resulting in a condition called cardiomyopathy,
characterized by extensive scarring of the tissue.
• All patients older than 18 present symptoms of cardiomyopathy.
• DMD also can cause conduction abnormalities in the heart.
RESPIRATORY PROBLEMS
• The diaphragm and other muscles that operate the lungs may
weaken, making the lungs less effective at moving air in and out.
• Weakened respiratory muscles make coughing difficult, leading
to increased risk of serious respiratory infection. A simple cold
can quickly progress to pneumonia.

6. MANAGEMENT(TREATMENT
)
• DMD treatment requires multidisciplinary care to maximize
function and quality of life for patients.
• Treatments can help to maintain comfort and function and
prolong life.
• Braces support the ankle and foot.
• Sooner or later, a wheelchair is needed
in DMD, typically by about age 12.
• Assisted ventilation may be required in those
with weakness of breathing muscles
• Steroids to slow muscle degeneration
• Cardiac problems may require a pacemaker.