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Muscular dystrophy

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This is my first presentation friends, it was my project and I selected this topic and this was my presentation, I hope it will be informative for all of you.
I am in T.Y.B.pharmacy, MGV's College of Pharmacy, Nashik.
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Muscular dystrophy

  1. 1. By: MR: SHAIKH MOHD ATHAR ABDUL QUDDUS MAHATMA GANDHI VIDYAMANDIR’S PHARMACY COLLEGE PANCHAVATI, NASHIK- 422003. 2014-2015 AREVIEW ON MUSCULAR DYSTROPHY 1
  2. 2. 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 2
  3. 3. INTRODUCTION The term muscular dystrophy refers to a group of inherited muscle-destroying diseases that cause progressive degeneration of skeletal muscle. [1] 3
  4. 4. 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] 4
  5. 5. 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] 5
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  7. 7. 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] 7
  8. 8. TYPES A. Duchenne (most common) and Becker B. Emery-Dreifuss C. Limb-girdle, D. Facioscapulohumeral, E. Distal F. Oculopharyngeal.[4] 8
  9. 9. 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] 9
  10. 10. ANIMAL MODELS MOUSE MODEL:mdx mouse(X-chromosome-linked muscular dystrophy)  CANINE MODEL(Golden retriever (GRMD) German shorthaired pointers (GSHPMD) [3] 10
  11. 11. DIAGNOSIS OF MUSCULAR DYSTROPHY Family history Blood test Electromyography Muscle biopsy Histopathology DNA test Gene sequencing Magnetic Resonance Imaging[3] 11
  12. 12. 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] 12
  13. 13. COMPLICATION AND THEIR MANAGMENT Scoliosis and Contractures Pulmonary Complications Cardiac Complications Obesity. [3,5] 13
  14. 14. 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] 14
  15. 15. FUTURE SCOPE Experiments on animal models Gene replacement therapy Gene repair strategies.[6,7] 15
  16. 16. 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. 16
  17. 17. 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. 17
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  19. 19. Thank You…… 19

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