2. Introduction
• characterized by progressive muscle weakness
• deterioration, destruction, and regeneration of
muscle fibers
• muscle fibers are gradually replaced with fibrous
and fatty tissue
• Duchenne (pseudohypertrophic) muscular
dystrophy (DMD) is one of the most commonly
known forms of muscular dystrophy
3. • DMD is a disease of progressive muscle
weakness leading to total paralysis and early
death in the late teens or young adulthood
• abnormal gene for DMD has been detected on
the X chromosome at band Xp21.2
• encodes for dystrophin, a 427-kD cytoskeleton
protein in the membrane
• X-linked recessive pattern: affects males almost
exclusively
4. • 100% of patients with DMD there is a complete
absence of dystrophin from muscle tissue
• loss of dystrophin results in a weakened cell
membrane that is easily damaged in muscle
contraction.
5. Investigations
• serum creatine kinase (CK) elevated
• Muscle biopsy specimens show degeneration with
gradual loss of fiber, variation in fiber size, and a
proliferation of connective and adipose tissue
• Electromyographic studies show patterns of low-
amplitude, short-duration, polyphasic motor unit
action potentials
• Cardiac involvement is present in more than 60% of
boys
• Subnormal IQ levels
6. Clinical features
• Child is Less physically active than expected
• delay of early developmental milestones Eg:
crawling and walking.
• Frequent falling when attempting to run, jump,
climb structures, or negotiate uneven terrain.
• age 5 years, symmetrical muscle weakness can
usually be clearly identified by MMT.
• Deep tendon reflexes may be absent by 8 to 10
years
7. • Typical progression of weakness is symmetrical
from proximal to distal, with marked weakness
of the pelvic and shoulder girdle musculature
preceding weakness of the trunk and more distal
extremity muscles.
• Bowel and bladder function: Spared
• Sensation is normal
• Muscle progression is slow
• Child is wheelchair bound by 10-13 years
8. • Pseudohypertrophy is evident as the muscle
tissue is replaced by fat and fibrous tissue
• Contractures:Hip external rotation, abduction,
knee flexion, and plantar flexion
11. • Gait: wide base of support pattern: pelvic girdle
weakness
• Contributing factors are
• rate of progression of weakness;
• severity of contractures
• influence of body weight;
• degree of respiratory compromise;
• type of treatment interventions such as bracing,
surgery, and exercise;
• extent of family support;
• the child’s personal motivation to ambulate.
12.
13. • Progression of Upper- extremity weakness
• Proximal to distil
• Meryon sign: child slips from the examiner’s
• grip as the child is being lifted from under the
arms
19. • Functional Status: Muscular Dystrophy
Functional Rating Scale
• 33 items covering mobility, basic ADLs, arm function,
and impairment (including contractures, strength of the
trunk and neck, scoliosis, and respiratory issues)
• Respiratory functions: bulbar function, cough
effectiveness, and FVC
• Chest expansions and ausculation.
20. Physiotherapy Management
• basic goals for a therapeutic program are
straightforward:
• (1) to prevent contractures
• (2) to maintain maximal strength and endurance
and prevent disuse atrophy,
• (3) to facilitate maximal functional abilities by using
appropriate adaptive equipment,
• (4) to maintain maximal respiratory muscle strength
and movement of secretions,
• (5) to foster realistic child and family expectations
within the context of the environment
21. • Prevention of Contractures.
• ROM exercises, Stretching, positioning,
splinting, orthoses, and standing devices.
• Respiratory and Dysphagia Care.
• simple breathing exercises stressing
diaphragmatic breathing, full chest expansion,
air shifts, and rib cage stretching
• Handheld incentive spirometer units and
playing blowing games
22. • “air stacking” techniques : increase intrathoracic
pressure
• mechanical insufflator-exsufflator
• Postural drainage.
• Exercise and the Maintenance of Maximal
Functional Level
• Muscle strengthening
• brief periods of low- or high-intensity activity can
improve strength for patients with minimal to moderate
weakness.
• electrical stimulation can have a beneficial effect if used
with children whose muscles are not already markedly
weakened
23. • Active / active assistive assisted exercises.
• Mild manual resistance.
• Circuit training
24. • Aerobic endurance training
• Submaximal exercise is not harmful and it may be
helpful in maintaining maximal function if the
patient does not exercise into marked fatigue
• ball activities, walking-based simple obstacle
courses, parachute games, table tennis, cycling
• Swimming is an excellent exercise
• Maintenance of Ambulation.
• Aggressive ROM, positioning, and activity program,
the child’s walking time may be extended by
months.
27. • Transition to Wheelchair
• the predicted time for cessation of independent
walking (8 to 12 years)
• development of contractures, disuse weakness,
and obesity increases
• To control the collapsing spine, spinal orthoses
and seat inserts to lock the spine in extension (to
prevent lateral bending and rotation) are
frequently recommended
28. • child’s standing program in KAFOs should be
continued at school and at home as long as
possible, with a goal of 3 to 5 hours of standing
per day.
• Psychological issues.
