Zusammenfassung der Ressource
Ahmad cannot run
- 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
- 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
- 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