Duchene muscular dystrophy This presentation explains dmd disease

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.