ahmad cannot run

ahmad cannot run

1. anatomy of the foot

2. gait

   • describes the style of walking
   • two phases
     • stance
     • swing

3. muscle dystrophies

   • group of genetic, degenerative diseases
     • affecting voluntary muscles
   • patterns of inheritance
     • Sex linked
     • Autosomal recessive
     • Autosomal dominant
   • Duchenne’s Muscular dystrophy
     • progressive muscle degeneration
     • caused by absence of dystrophin
   • Becker Muscular Dystrophy
     • is similar to DMD
     • dystrophin is partially functional

4. Investigations of muscle diseases

   • Enzyme tests
   • Electromyography
   • genetic testing
   • Muscle biopsy
   • Heart-monitoring tests
   • Lung-monitoring tests
   • MRI
   • Western blot to quantify dystrophin amount DMD/BMD

5. quality of life

   • mobility
   • diet
   • sleeping
   • difficulty breathing
   • heart problem

6. learning difficulties

   • dyslexia
   • Dyscalculia

7. Gene Therapy

   • DNA is introduced into a patient to treat a genetic disease.
   • two types
     • Somatic gene therapy
     • Germline gene therapy
   • techniques
     • Gene augmentation therapy
     • Gene inhibition therapy
     • Killing of specific cells

8. genetic counselling

   • Education
   • Genetic testing
   • Emotional counseling

9. Psychology

   • Big medical transitions caused anxiety and worry
   • Leading to other mental problems
     • isolation
     • anxiety
     • self depreciation
     • phobias
     • insecurities

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