Ahmad cannot run

Ahmad cannot run

1. Neurological examination of lower limb

   • Steps:
     • 1. Inspection
       • 2. Romberg's test
         • 3. Tone
           • 4. Power
             • 5. Reflexes
               • 6. Sensation
                 • Light touch
                 • Pin prick
                 • Vibration
                 • Proprioception

2. Gait

   • The style of walking
   • Phases
     • Stance
     • Swing
   • Gait cycle
     • Heel strike
       • Weight bearing
         • Push off
           • Swing through
   • Gait abnormalities
     • Trendelenberg gait
     • Lurch gait
     • Swing out
     • Hip hiking
     • Steppage

3. Muscle dystrophies

   • Progressively weakening genetic diseases that target voluntary muscles
   • Becker's Muscular Dystrophy
     • A milder version of DMD
   • Emery-Dreifuss
     • A genetic defect that leads to incomplete nuclear envelope
   • Limb-girdle
     • A 15 gene defect that leads to abnormal muscle protein
   • Oculopharyngeal
     • Due to genetic defect that causes clumping of faulty protein
   • Duchenne's Muscular Dystrophy
     • Progressive weakening due to lack of dystrophin
     • Pathophysiology
       • A mutation on Xp21
       • Dystrophin
         • Links muscle cells to extracellular matrix
           • Lack of it
             • Destruction of muscle cells
     • Signs & Symptoms
       • Infant
         • Motor development is delayed
         • Transition
           • 3-9
           • Loss of ambulation
             • 10-14
             • Late
               • 15+
     • Investigations
       • Blood enzyme level
       • EMG
       • Genetic testing
       • Biopsy
       • Western Blot
     • Quality of Life
       • Heart problems
       • Breathing difficulties
       • Immobility
       • Insomnia
       • Learning disabilities
         • Dyslexia
         • Dyscalculia
         • Dysgraphia
     • Gene Therapy
       • new DNA containing a functioning gene to correct the effects of a disease-causing mutation
         • Somatic
           • Gene transferred to body cells
         • Germline
           • Transferred to a gamete cell
         • Techniques
           • Gene augmentation
           • Gene inhibition
           • Killing cells