Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness due to alterations in the dystrophin protein. Dystrophin links the muscle cell's internal cytoskeleton to the extracellular matrix. Without dystrophin, the dystrophin-associated protein complex is destabilized, which leads to muscle fiber damage and membrane leakage over time. Boys with Duchenne muscular dystrophy are usually wheelchair-bound by age 12 and die in their late teens or early twenties due to respiratory or cardiac failure. The prognosis is generally poor, with patients becoming wheelchair-dependent by age 12 and dying in their teens or 20s.

1. Duchenne muscular dystrophy

2. Index
1. definition
2. anatomy
3. pathology
4. sign and symptoms
5. ot assessment objective
6. ot assessment subjective
7. ot goals
8. treatment
9. prognosis
10. differential diagnosis

3. Definition
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized
by progressive muscle degeneration and weakness due to the alterations
of a protein called dystrophin that helps keep muscle cells
intact(definition by muscular dystrophy association).
Muscular dystrophy (MD) refers to a group of genetic diseases that cause
progressive weakness and degeneration of skeletal muscles.
(National Institute of neurological disorders and stroke)
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4. Ducchene muscular dystrophy is
a common sex linked recessive
trait appearing in 20to30per
100,000 boys results from
absence of a large cytoskeletal
protein called dystrophin
(reference-essential of pediatrics
by Nelson).
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7. Pathology
Dystrophin has a major role in muscle as it links the internal cytoskeleton to the extracellular
matrix. The amino-terminus of dystrophin binds to F-actin and the carboxyl terminus to the
dystrophin-associated protein complex (DAPC) at the sarcolemma (Fig 2; Blake et al, 2002). The
DAPC includes the dystroglycans, sarcoglycans, int0egrins and caveolin, and mutations in any
of these components cause autosomally inherited muscular dystrophies. The DAPC is
destabilized when dystrophin is absent, which results in diminished levels of the member
proteins. This in turn leads to progressive fibre damage and membrane leakage. The DAPC has
a signalling role, the loss of which also contributes to pathogenesis. DMD patients are usually
wheelchair-bound by 12 years of age and die of respiratory failure in their late teens or early
twenties. Many boys have an abnormal electrocardiogram by the age of 18, indicating that any
therapeutic agent must also target the diaphragm and cardiac muscle.
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8. The dystrophin-associated protein complex in muscle linking the internal
cytoskeleton to the extracellular matrix. NOS, nitric oxide synthase
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9. Signs and Symptoms
● Difficulty rising from a lying or sitting
position
● Trouble running and jumping
● Waddling gait
● Walking on the toes
● Large calf muscles
● Muscle pain and stiffness
● Learning disabilities
● Delayed growth
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11. Ot assessment Objective
1. Manual muscle testing (Ashworth Scale)
2. Daily activities (FIM Scale)
3. Range of motion (Goniometer, Measuring tape)
4. Pain (Pain Scale)
5. Sensory testing (Sensory profile scale)
6. Diagnostic tools are used muscle biopsy or genetics testing

18. Treatment

21. PROGNOSIS
The prognosis is often poor for people with Duchenne muscular
dystrophy (DMD). It leads to progressively worsening disability, and
most children with DMD need to use a wheelchair by the age of 12. DMD
ultimately results in death at an early age
Patients are often wheelchair dependent by the age of 12 years. Death
occurs as a result of respiratory or cardiac complications in the teens or
20s. Other causes of death are pneumonia, aspiration, or airway
obstruction.
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22. Type Description Age of Onset Progression
Duchenne Affects boys only because it is
inherited as an X-linked recessive
trait
Result from gene mutation that
protein involved in maintenance
of muscle integrity
Onset Age: 3-5 years–begins in
muscle of pelvic girdle and legs
By years unable to walk; uses
wheelchair Weakness spreads
upwards to shoulder girdle &
trunk By 20 most need respirator
to breathe, with death usually
occuring by age
Becker Similiar to Duchenne, with milder
symptoms X-linked recessive,
affects boys
Onset Age: 2-16 years
Slower progression of weakness
Survival into middle age

23. Differential diagnosis
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24. Differential diagnosis
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