Muscular Dystrophy

1. Muscular Dystrophy
By:
HEMANT AGGARWAL
BPT INTERN
PDUNIPPD

2. Introduction:
Muscular Dystrophy is a group of muscle
diseases that results in increasing weakening and
breakdown of mainly skeletal muscles over the
time
It is hereditary disease which is of progressive
nature
 Sir Charles Bell,first wrote about MD but French
Neurologist,Guillaume Duchenne gave first
discription about this disease

3. Definition:
Muscular Dystrophy is a collective group
of inherited non-inflammatory but
progessive muscular disorders without a
central or peripheral nerve abnormality
(Source:Medescape.com)

4. Human Cell:

5. Causes:
Advances in molecular biology techniques illuminate
the genetic basis underlying all MD,DEFECTS in the
genetic code for DYSTROPHIN, a 427-kd skeletal
muscle protein
This can occur due to either inheriting:
1) the defect from one's parents
2) the mutation occurring during early development.
3) Disorders may be X-linked recessive, autosomal
recessive, or autosomal dominant

6. Genetics:

7. Pathophysiology :
Multiple proteins are involved in the complex
interactions of the muscle membrane and
extracellular environment. For sarcolemmal
stability, dystrophin and the dystrophin-associated
glycoproteins (DAGs) are important elements
The dystrophin gene is located on the short arm
of chromosome X near the p21 locus and codes
for the large protein Dp427, which contains 3685
amino acids. Dystrophin accounts for only
approximately 0.002% of the proteins in striated
muscle, but it has obvious importance in the
maintenance of the muscle's membrane integrity

8. Dystrophin:

11. Ultimate
Consequences :
• Ultimately
influx of
calcium
leads to
CELL
DEATH

13. Clinical Presentation :
The signs and symptoms consistent with muscular dystrophy are:
 Progressive muscular wasting
 Poor balance
 Scoliosis (Lateral bending of Spine Curvature)
 Progressive inability to walk
 Waddling gait
 Calf deformation(Pseudohypertrophy)
 Limited range of movement
 Respiratory difficulty
 Cardiomyopathy
 Muscle spasms
 Gowers' sign

14. Gower’s Sign:

15. Diagnosis:
Muscle Biopsy
DNA testing
Western Blot
Creatinine Phosphokinase(Normal:22 to 198
IU/L)
Other Examinations:
1) MRI 2) Chest X-ray
3) CT-Scan 4) EMG

16. Management:
Currently there is no cure for Muscular
Dystrophy
HELPING HANDS:
1) PHYSIOTHERAPY
2) Occupational Therapy
3) Speech Therapy
4) Orthotic Interventions
5) Medical Management: Low Intensity

17. Physiotherapy :
Assessment of Patient :-
1) Knowing Patient’s Needs for ADL
2) Muscle Charting(Mannual Muscle Testing)
Conditions of Joint and other Muscloskeletal
Structure
1) Respiratory Status

18. Cont.:
Exercises as per the muscle power
Breathing Exercises
Joint Glides
Stretching of Tighten Muscles
Weight-Bearing
Co-ordination Exercises
Hydrotherapy,etc.