Duschenne Muscular Dystrophy

Question 1

DMD

Answer 1

Genetic disorder
Progressive weakening and degeneration of meuscle

Caused by a mutation of the dystrophine gene, inherited in a X-linked recessive pattern

JUST MALES

Live to 20-30 years old

Question 2

Clinical Manifestations

Answer 2

Clinical signs come age 2-5
Early milestones are achieved at expected ages
Become more apparent with higher level gross motor activities
Progressive muscle wasting and weakness (LLs -> ULs and proximal->distal)

Question 3

S&S

Answer 3

Waddling gait
Gower’s maneover (climbing up legs to stand up)
Pseudohypertrophy of the calves (increased fat deposits and connective tissue development)
Lumbar hyperlordosis
Wide stance with external rotation of LE
Toe walking

Question 4

Associated Problems

Answer 4

Cardio-respiratory function (weak resp muscles and cardiac musculature)
Cognitive Function
Obesity (dietary intake > energy expenditure)
Gastrointestinal system (constipation and impaction due to decreased mobility)
Spine (increased Lordosis and increased Scoliosis)

Question 5

Medical management

Answer 5

Steroid therapy (preserves muscle function)
Mechanical Ventilation (BiPAP)
Surgery (scoliosis and spinal correction/ stabilization)

Question 6

PT management

Answer 6

AVOID aggressive strengthening (especially eccentric contraction)
Stretching and ROM exercises
Gait training
Education on overexertion (stop when tired) and energy conservation
Respiratory exercises (breath stacking, assistive cough, incentive spirometer)
Transfer training
Equipment selection (wheelchair, transfer lifts, power mobility)