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8637265
Ahmad cannot run
Description
Mind Map on Ahmad cannot run, created by rand firas on 23/04/2017.
Mind Map by
rand firas
, updated more than 1 year ago
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Created by
rand firas
over 7 years ago
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Resource summary
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
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