A short presentation in Genetics about Duchenne Muscular Dystrophy. The presentation includes its signs, symptoms, the life expectancy of a patient, and its management.

1. Duchenne
Muscular
Dystrophy
Prepared by: Veronica Baje

2. What is Duchenne Muscular
Dystrophy?
Duchenne muscular dystrophy (DMD) is a genetic disorder
characterized by progressive muscle degeneration and
weakness. It is one of nine types of muscular dystrophy, in
which it is the most aggressive type.
DMD is caused by an absence of dystrophin, a protein that
helps keep muscle cells intact. Symptom onset is in early
childhood, usually between ages 3 and 5. The disease
primarily affects boys, but in rare cases it can affect girls.

4. Duchenne Muscular
Dystrophy Pathogenesis
In 1986, researchers identified a gene on the X
chromosome that, when flawed (mutated),
causes both Duchenne and Becker muscular
dystrophies.
DMD occurs because the mutated gene fails to
produce virtually any functional dystrophin.
Lack of dystrophin causes muscle damage and
progressive weakness, beginning in early
childhood.

5. How to Diagnose Duchenne
Muscular Dystrophy?
• Genetic counseling
• DNA test
• Muscle biopsy
• Prenatal test
• Blood enzyme test
• Electromyography

6. Signs and Symptoms
• Muscle weakness that begins in the hips,
pelvis, and legs
• Difficulty standing
• Trouble learning to sit independently and walk
• Unsteady, waddling gait
• Walking on the toes or balls of the feet
• Clumsiness, falling often
• Trouble climbing stairs
• Difficulty rising from a lying or sitting position
• Larger-than-normal calves that are sometimes
painful
• Trouble breathing
• Learning disabilities or behavioral problems
• Curvature of the spine (scoliosis).
• Breathing problems

7. Life Expectancy
Until relatively recently, boys with
DMD usually did not survive much
beyond their teen years. Thanks
to advances in cardiac and
respiratory care, life expectancy is
increasing and many young adults
with DMD attend college, have
careers, get married and have
children. Survival into the early
30s is becoming more common,
and there are cases of men living
into their 40s and 50s.

8. Managing Duchenne
Muscular Dystrophy
• Albuterol, a drug used for
people with asthma
• Amino acids, carnitine, fish oil,
green tea extracts, Vitamin E
Other treatments may include:
• Assisted ventilation (used
during the day or night)
• Drugs to help heart function
• Orthopedic appliances (such
as braces and wheelchairs) to
improve mobility
• Spine surgery to treat
progressive scoliosis for some
people
• Proton pump inhibitors (for
people with gastroesophageal
reflux)
• Speech and physical therapy