Muscular dystrophy is a group of inherited muscle diseases characterized by progressive weakening and breakdown of skeletal muscles. It results from genetic defects in proteins like dystrophin that help keep muscle cells intact. The dystrophin gene is located on the X chromosome, so the disease is often X-linked and affects males more severely. Over time, muscle cell damage leads to increasing difficulty with movements like walking, and can impact breathing or heart function in later stages. While there is no cure, treatment focuses on physical therapy, bracing, and other approaches to manage symptoms and improve quality of life.

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.