Case report Duchenne Muscular Dystrophy

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Clinical Improvement on Duchenne Muscular Dysthropy

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Case report Duchenne Muscular Dystrophy

  1. 1. ( CASE REPORT )Ratna JuwitaSolo 19 Jan 2013
  2. 2. INTRODUCTION MUSCLE DYSTROPHY  Are groups of inherited neuromuscular disorders  Characterized by progressive weakness and wasting of the muscles  The most common form is Duchenne muscular dystrophy
  3. 3.  DUCHENNE MUSCULAR DYSTROPHY  1 : 3500 boys, X – linked disease  Cause :  Mutation in the dystrophyn gene, located on the x - chromosome  Part of the gene is missing  Body cannot make dystrophin  Progressive degeneration of all the muscles
  4. 4. SYMPTOMS Fatigue Muscle weakness & wasting Frequent falls Difficulty in walking Limitation of movement Difficulty in getting up from a lying or sitting position
  5. 5. DIAGNOSIS Gower‘s sign Serum CK EMG Chromosome analysis Genetic test : dystrophin mutation Muscle biopsy
  6. 6. THERAPY Steroid Physical therapy Orthopaedic appliances Breathing aids Gene therapy Stem cell therapy
  7. 7. Potential uses of stem cells
  8. 8. CASE JAN 2010  Boy, 7,5 yrs, 19 Kgs  Contact Dermatitis  Muscle weakness, losing weight and develop a difficulty in walking ( 2 yrs )  Referred to Dr. Soetomo Hospital Surabaya. MAY 2012  Dr. Soetomo Hospital Surabaya :  Gowers’s sign : positive  Serum CK : 109 ( normal < 171 )  EMG : myopathy  Diagnosed : DMD  NO TREATMENT
  9. 9. CASE OCT 2012  10 yrs, 16 Kgs  2 weeks : Tinea corporis on chest and neck  Progressive muscle weakness  Difficulty in walking, chewing and eating.  Loss of appetite  Falls frequently and joint stiffness OCT 20, 2012  Stem cell therapy started
  10. 10. PROGRESS NOTES
  11. 11. PROGRESS NOTES
  12. 12. 3 yrs 5 yrs 7 yrs
  13. 13. 20/10/12
  14. 14. 24 / 12 / 12
  15. 15. 14/01/13
  16. 16. Arm flexion
  17. 17. Tinea of the chest
  18. 18. CONCLUSION DMD treatment with stem cells shows clinically improved result Treatment courses must be carried out from the early stage, with comprehensive multi dicipline approaches. Longer period of observations is needed to obtain better result  the treatment is still ongoing
  19. 19. MATUR NUWUN

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