A REVIEW ON MUSCULAR

DYSTROPHY
By:
MR: SHAIKH MOHD ATHAR ABDUL QUDDUS

MAHATMA GANDHI VIDYAMANDIR’S

PHARMACY COLLEGE PANCHAVATI, NASHIK- 422003.
2014-2015

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 CONTENT
1. Introduction
2. Sign And Symptoms
3. Clinical Stages of Muscular Dystrophy
4. Epidemiology
5. Types
6. Etiology
7. Animal Models
8. Diagnosis Of Muscular Dystrophy
9. Pharmaceutical Approach
10. Complication and Their Management
11. Case Study
12. Future Scope
13. Conclusion
14. References
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 INTRODUCTION
The term muscular dystrophy refers to a group of
inherited muscle-destroying diseases that cause
progressive degeneration of skeletal muscle. [1]

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 SIGN AND SYMPTOMS

Signs and symptoms vary with every type but some common are
progressive muscular wasting,
drooping eyelids, atrophy,
Scoliosis,
Inability to walk, frequent falls,
limited range of movement,
respiratory difficulty, joint contractures,
cardiomyopathy, arrhythmias,
muscle spasms,
gowers' sign. [2]
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 CLINICAL STAGES OF
MUSCULAR DYSTROPHY
Stage 1: Early/pre-symptomatic
Stage 2: Early ambulatory (Walking)
Stage 3: Late Ambulatory (going off feet)
Stage 4: Early non-ambulatory
Stage 5: Late non-ambulatory
Stage 6 Palliative Cares / End of Life. [3]

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 EPIDEMIOLOGY
Duchenne muscular dystrophy
is the most common form of
MD.

DMD strikes boys almost

exclusively. (World wide about
1 in every 3500 male babies)

Age of onset differs with every

type. [1]

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 TYPES
A. Duchenne (most common) and
Becker
B. Emery-Dreifuss
C. Limb-girdle,
D. Facioscapulohumeral,
E. Distal
F. Oculopharyngeal.[4]

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 ETIOLOGY

Muscular dystrophies are caused by mutations in genes encoding

proteins that are essential for normal muscle function.
The main gene associated is Dystrophin gene. [2]

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 ANIMAL MODELS

MOUSE MODEL:mdx mouse(X-chromosome-linked muscular

dystrophy)

 CANINE MODEL(Golden retriever (GRMD) German shorthaired

pointers (GSHPMD) [3]

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 DIAGNOSIS OF MUSCULAR
DYSTROPHY
Family history
Blood test
Electromyography
Muscle biopsy
Histopathology
DNA test
Gene sequencing
Magnetic Resonance Imaging[3]

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PHARMACOLOGICAL APPROACH

Drug treatment
Gene therapy
Stem Cell Therapy
Physical and Occupational Therapy
Psychological, Orthopedic, Respiratory and Cardiovascular
Management
Rehabilitation
Ongoing clinical trials of various new therapies for muscular
dystrophy. [3]
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 COMPLICATION AND THEIR
MANAGMENT

Scoliosis and Contractures

Pulmonary Complications
Cardiac Complications
Obesity. [3,5]

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 CASE STUDY
Duchenne Muscular Dystrophy
A case of 11 year old male, who complained of gradually
progressive bilateral lower limb weakness since 5 years.

Clinical Improvements seen After Stem Cell Therapy:

Stamina and endurance improved
Psychologically was more confident alert and responsive
He was able to walk independently with KAFO [Knee
Ankle Foot Orthosis].
Following muscles showed improved strength
Hip, knee, ankle, shoulder, abdominals. [3]

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 FUTURE SCOPE

Experiments on animal models

Gene replacement therapy
Gene repair strategies.[6,7]
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 CONCLUSION
Very rare and harmful disease, only caused by genetic
defect
DNA fingerprints of patient muscle
Gene or stem-cell therapy
However, the cure is not present till now, an effective
management and treatment can give some relief to patient
for some time.

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 REFRENCES
1) Tortora Gerard J. and Derrickson Bryan, “Principles Of Anatomy And
Physiology”, Twelfth Edition, 2008, John Wiley & Sons Publication, pg. no. 331.
2) wikipedia.org/wiki/Muscular dystrophy
3) Sharma Alok, “Stem Cell Therapy & Other Recent Advances in Muscular
Dystrophy”, 2011, Neurogen Brain and Spine Institute publication, pg. no. 1, 48-
51.
4) Emery E H Alan, “The Muscular Dystrophies”, Seminar, 2002, Volume 359,
Lancet publishing group, pg. no. 687-689.
5) Chambers Leigh “A Home Exercise Book Physiotherapy Management for
Duchenne Muscular Dystrophy”, Muscular Dystrophy Campaign publication,
2009, pg. no 2-6.
6) Hermans A., Pinto Y.M. , Merkies I.S.J., Smulders D., Crijns H.J., Faber C.G.
“Hereditary Muscular Dystrophies And The Heart”, Elsevier, 2010, Elsevier
publication , pg. no. 1-14.
7) Allamand Valérie and Campbell Kevin P., “Animal models for muscular
dystrophy: valuable tools for the development of therapies” Human Molecular
Genetics, 2000, Vol. 9, No. 16, pg. no 1-9.
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Thank You……

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