Duschenne’s Muscular Dystrophy

1. Duschenne Muscular Dystrophy
recessive X-linked form of muscular dystrophy

2. History:
The
disease was first described by the
Neapolitan physician Giovanni Semmola
in 1834 and Gaetano Conte in 1836.
 DMD is named after the French
neurologist Guillaume Benjamin Amand
Duchenne (1806–1875)

3. Cause:
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Caused by a mutation in
the dystrophin gene.
Dystrophin gene- codes
for
the protein dystrophin, an
important structural
component within muscle
tissue that provides
structural stability to
the dystroglycan
comple (DGC) of the cell
membrane.

4. Effect:
The
lack of dystrophin leads to muscle
fibre damage and a gradual weakening of
the muscles.

5. Inheritance:

6. Sign and symptoms:
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Awkward manner of walking, stepping, or
running
Frequent falls
Fatigue
Difficulty with motor skills (running,
hopping, jumping)
Muscle contractures of achilles tendon
and hamstrings impair functionality
Progressive difficulty walking

7. •
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Muscle fiber deformities
Pseudohypertrophy (enlarging) of tongue and calf
muscles
Higher risk of neurobehavioral disorders (e.g.,
ADHD), learning disorders (dyslexia), and nonprogressive weaknesses in specific cognitive skills
(in particular short-term verbal memory), which
are believed to be the result of absent or
dysfunctional dystrophin in the brain.
Eventual loss of ability to walk (usually by the age
of 12)
Skeletal deformities (including scoliosis in some
cases)

8. Diagnosis:
DNA
test
Muscle biopsy
Prenatal tests

9. Treatment:
No treatment for the disease.
Controlling the onset of symptoms to
maximize the quality of life is possible:
Corticosteroids such
as prednisolone and deflazacort
Mild, non-jarring physical activity
Physical therapy
Orthopedic appliances