This document summarizes muscular dystrophy, focusing on Duchenne muscular dystrophy (DMD). It defines DMD as the most common and severe form of muscular dystrophy, caused by an absence of the protein dystrophin. The document outlines the signs and symptoms of DMD including muscle weakness, loss of ambulation by age 12, and early death typically around age 26. Physical therapy for DMD aims to prolong functional ability, prevent deformities like scoliosis, and facilitate family support through the progression of the disease.

1. Muscular Dystrophy
• Hereditary progressive disease
• Non myotonic
• Myotonic
-

2. Non Myotonic
-DMD
-BMD
-Facioscapulohumaral
-limb Gridle
-Congenital muscular dystrophy

3. Myotonic
-Myotonic dystophy
-Myotonia congenita

4. Duchenne Muscular Dystrophy
First described by Duchenne in 1868

5. Duchenne Muscular Dystrophy
• The most common form of muscular
dystrophy
• X linked recessive disorder
• Defect is localized to the short arm of X
chromosome at Xp21
• Incidence: 1 per 3500 live male births
• Mutation rate: 1 per 10000 gametes
• 30% cases have no family history

6. • Rare female cases
• Pseudo hypertrophy of calf, deltoid muscle
• Serum CPK elevated between 20 to 100
times
• Absence of dystropin

7. Duchenne Muscular Dystrophy
First problems:
– Delayed motor development: muscle weakness
from 3-4 yrs
– Inability to run
– Difficulties in climbing stairs
– Gower’s Manoeuvre
– Muscle fibrosis – pseudohypertrophy
– Elevated muscle enzymes in serum (creatine
kinase)

8. Phases of DMD
Early

9. Followed by:
– Progressive weakness; loss of mobility by
age 12
– Scoliosis
– Cardiac failure
– Respiratory failure
– Early death (mean age 26)

10. Intermediate

11. Late

12. Histopathology of DMD Muscle

13. Becker Muscular Dystrophy
• 10 time less frequent than DMD
• Slower progress in nature
• Patient survives till 40-50 years
• Mental retardation and heart failure can
occur
• serum CPK, EMG similar to DMD
• Reduced amount of distrophin

14. Normal
Muscle
BMD
Muscle
DMD
Muscle

15. Physiotherapy assessment
• Manual Muscle Testing
• ROM
• Stages
• pulmonary function
• Functional Evaluation
• Upper limb
• Lower Limb
• ADL

16. Functional Grades (UL)
1-Sdanding with arms at the sides the patient can
abduct the arms in a full circle until they touch
above the head
2-the patient can raise the arms above the head
only by flexing the elbow or by using accessory
muscle.
3-The patient cannot raise hands above the head
,but can raise an 8-oz glass of water to mouth

17. 4-the patient can raise hands to the mouth but
cannot raise 8-oz glass of water to the mouth
5-The patient cannot raise hands to the mouth but
can use the hands to hold a pen or to pick up
pennies from a table .
6-The patient cannot raise hands to the mouth and
has no useful function of the hands.

18. Functional Grades (LL)
1-walk and climbs stairs without assistance
2-walk and climbs stairs with aid of railing
3-walk and climbs stairs slowly (elapsed
time of more than 12 seconds for four
standards stairs) With the aid of a railing

19. 4-Walks unassisted and raise from a chair
but cannot climbs stairs
5-Walks unassisted but cannot raise from a
chair or climb stairs
6-Walks only with assistance or
independently with long leg braces

20. Physical Therapy Intervention
Area of concern
• Weakness
• Decreased activity and passive ROM
• Loss of ambulation
• Decreased functional ability
• Decreased pulmonary function
• Emotional trauma-individual and family
• Progressive scoliosis

21. • Prevent deformity
• Prolong functional capacity
• Facilitate the development and assistance
of family support and support of others
• Control pain if necessary

22. Facilitate the development and
assistance of family support
• Counseling family and patient
• Developing skills for support therapy

23. Preventing Deformity
• Stretching –TA,ITB, Hip Flexor, Foot
evertors
10-30 repetition twice daily
• Night Splints

24. Active Exercise
• Several studies have indicated that
submaximal exercise has limited value in
increasing strength or changing function in
DMD- P.Vignos et.al
• Scott et.al have suggested a possible
beneficial effect of chronic low –
frequency electrical stimulation in DMD

25. Prolongation of Ambulation
• Wait control
• Endurance training
• Use of orthotic appliances
• Energy conservation if fatigue occur

26. Wheel Chair
• Positioning
• Weight shift
• Splints
• Braces
• Wheel chair transfer

27. Wait control
• Diet control
• Aerobic exercise
• Endurance

28. Minimizing spinal deformity
• Spinal stretching
• Braces TLS
• Surgical correction