Post on 16-Jul-2015
transcript
By:
MR: SHAIKH MOHD ATHAR ABDUL QUDDUS
MAHATMA GANDHI VIDYAMANDIR’S
PHARMACY COLLEGE PANCHAVATI, NASHIK- 422003.
2014-2015
A REVIEW ON MUSCULAR
DYSTROPHY
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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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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 AndPhysiology”, 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 MuscularDystrophy”, 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 forDuchenne 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, Elsevierpublication , pg. no. 1-14.
7) Allamand Valérie and Campbell Kevin P., “Animal models for musculardystrophy: valuable tools for the development of therapies” Human MolecularGenetics, 2000, Vol. 9, No. 16, pg. no 1-9.
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