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
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
Transitional phase
Toddler
By the 2nd year have hip girdle weakness
Delayed walking, falling, toe
walking and trouble running
or walking upstairs
Lordotic posture
In 3-9 yrs
Early
Gowers
sign
Pseudohypertrophy of calf muscles
Contractures mostly
of ankles, knees
hips and elbows
Late stage
15yrs+
Cardiomyopathies
Respiratory problems
learning disability
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
Learning issues of DMD
attention focusing
verbal learning and memory
emotional interaction
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
Antalgic gait
Ataxic gait
Investigations for Diagnosis
of Muscle Problems
Serum Creatine Kinase Test
Electromyography
TFT Test
Muscle biopsy
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
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
Basics of gene
therapy
approaches
Viral delivery
Complications
Short Lived
Immune Response
Viral Vectors
Multigene
Disorders
Tumor formation
Psychosocial aspects of
muscular dystrophy
Difficulty with social
interactions
social
isolation
anxiety or
depression
History taking for
children with walking
abnormalities