Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle weakness and deterioration due to the absence of dystrophin protein. It primarily affects males and causes increasing weakness starting in the pelvic and shoulder muscles. As the condition progresses, patients become wheelchair bound in their early teens and can experience respiratory and cardiac complications leading to early death in young adulthood. Physiotherapy focuses on maintaining strength and range of motion, preventing contractures, and supporting respiratory function and mobility for as long as possible.

1. Duchenne’s Muscular dystrophy
Dr. Manjiri Kulkarni

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

9. Postural deviations

10. Gower’s sign

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.

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

14. Hand reach test

15. Meryon’s Sign

16. • Respiratory impairment
• Muscle weakness
• Scoliosis
• Aspiration

17. • Medical management:
• Genetic counseling
• Corticosteroid therapy
• Respiratory impairments: NIV
• Nutrition : obesity,
• Scoliosis

18. Evaluation
• History
• HMF
• Sensory Examination
• Motor examination: Tone, reflexes, MMT, ROM,
contractures
• Balance : sitting, standing
• Functional balance: berg’s balance scale
• Gait analysis

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.

25. • Surgical release of contractures
• Bracing: bilateral KAFO
• Assistive devices: walker,swiwel walker,orlau
parapodium

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.