8602578
Description
Ahmad cannot
run
- Demographics
- Ahmad
- 5 years old
- Ahmad
- Anatomy of the foot &
ankle
- Bones
- Muscles
- Ligaments
- Arteries
- Nerves
- Bones
- Muscular Dystrophy
- Pathophysiology OF DMD
- Absence of Dystrophin
- Mechanically induced damage
through eccentric contractions
- Loss of stability of sarcolemma
and loss of calcium homeostasis
- Regeneration, inflammation, impaired
vascular adaptation, and fibrosis
- Cell Death
- Cell Death
- Regeneration, inflammation, impaired
vascular adaptation, and fibrosis
- Loss of stability of sarcolemma
and loss of calcium homeostasis
- Mechanically induced damage
through eccentric contractions
- Absence of Dystrophin
- Function of dystrophin
- Natural history of DMD
- Early phase
- gross motor skills (sitting,
standing) maybe mildly delayed
- Poor head control is usually the first sign
- gross motor skills (sitting,
standing) maybe mildly delayed
- Transitional phase
- Toddler
- By the 2nd year have hip girdle weakness
- Delayed walking, falling, toe
walking and trouble running
or walking upstairs
- Lordotic posture
- By the 2nd year have hip girdle weakness
- In 3-9 yrs
- Early
Gowers
sign
- Pseudohypertrophy of calf muscles
- Contractures mostly
of ankles, knees
hips and elbows
- Early
Gowers
sign
- Toddler
- Late stage
- 15yrs+
- Cardiomyopathies
- Respiratory problems
- learning disability
- Cardiomyopathies
- 15yrs+
- Loss of
ambulation
- In 10-14yrs
- Children are using wheelchair
- Scoliosis due to sitting and back weakness
- Upper limb weakness and difficult to retain use of fingers
- Children are using wheelchair
- In 10-14yrs
- Early phase
- Learning issues of DMD
- attention focusing
- verbal learning and memory
- emotional interaction
- attention focusing
- Neurological
Examination of
the Lower Limb
- Scale of
muscle
strength
- Gower's sign
- Normal Gait
- Abnormal Gaits
- Lateral trunk bending
(Trendelenburg gait)
- Anterior trunk bending
- Posterior trunk bending
- Insufficient push off
- Functional leg discrepancy
- Swing-out
- Hip hiking
- Steppege gait
- Vaulting
- Swing-out
- Antalgic gait
- Ataxic gait
- Lateral trunk bending
(Trendelenburg gait)
- Investigations for Diagnosis
of Muscle Problems
- Serum Creatine Kinase Test
- Electromyography
- TFT Test
- Muscle biopsy
- Serum Creatine Kinase Test
- Genetic counseling
- patients at risk of an inherited disorder are advised of the
consequences of the disorder, the probability of transmitting
it, and the options open to them in family planning
- patients at risk of an inherited disorder are advised of the
consequences of the disorder, the probability of transmitting
it, and the options open to them in family planning
- Duchenne Muscular
Dystrophy Inheritance
- Treatment of DMD
- physical therapy
- positioning aids
- braces and splints
- nutritional counseling
- Medications
- Eteplirsen (Exondys 51)
- Steroids (such as prednisone)
- oral
corticosteroid
deflazacort
- Eteplirsen (Exondys 51)
- physical therapy
- Basics of gene
therapy
- approaches
- Viral delivery
- Complications
- Short Lived
- Immune Response
- Viral Vectors
- Multigene
Disorders
- Tumor formation
- Short Lived
- approaches
- Psychosocial aspects of
muscular dystrophy
- Difficulty with social
interactions
- social
isolation
- anxiety or
depression
- Difficulty with social
interactions
- History taking for
children with walking
abnormalities
- General and developmental history
- Signs and symptoms history
- General and developmental history
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