Duchenne Muscular Dystrophy

Question 1

Muscular dystrophy

Answer 1

Cause of muscle weakness is attributable to the pathology confined to the muscles

Question 2

Who is more affected by DMD?

Answer 2

Boys because dystrophin gene is on the X chromosome

Question 3

Duchenne Muscular Dystrophy

Answer 3

Deficient dystrophin

Question 4

Diagnosis

Answer 4

Genetic testing
Muscle biopsy
Electromyography (EMG)
Muscle ultrasound
Blood levels of CPK (creatine phosphokinase)

Question 5

Clinical presentation

Answer 5

Progression condition
Muscle weakness becomes evidence between 3-5 y/o
Developmental milestones may be delayed
Proximal muscles affected more than the distal muscle groups

Question 6

Clinical presentation
- progressive condition

Answer 6

Muscle weakness
Contractures
Deformities
Progressive disability

Question 7

Clinical presentation
- Developmental milestone may be delayed

Answer 7

Bayley-III scales can show lower scores for infants and young children with DND

Question 8

Clinical presentation
- Proximal muscles

Answer 8

Shoulder and pelvic girdles

Question 9

Clinical presentation
- Secondary impairments

Answer 9

Postural and gait abnormalities
Development of scoliosis
Reduced pulmonary capacity
Cardiac dysfxn
Easy fatigability
Obesity
Loss of dystrophin in the brain can cause intellectual disabilities

Question 10

Clinical Progression
- Infancy

Answer 10

Delayed motor milestone such as walking, delayed speech

Question 11

Clinical progression
- Early childhood

Answer 11

Unable to keep up with peers or to climb stairs
Raises from floor using Gower’s maneuver

Question 12

Clinical progression
- From age 5 years

Answer 12

Abnormal movements (waddling gait, toe walking)

Question 13

Clinical progression
- From age 7 years

Answer 13

Walking becomes increasingly difficult
May need a scooter or wheelchair after walking long distances

Question 14

Clinical progression
- Up to 13 years

Answer 14

Loss of independent ambulation (increasing use of w/c)

Question 15

Clinical progression
- After loss of ambulation

Answer 15

Loss of self-feeding and respiratory, orthopedic, and cardiac complications

Question 16

Clinical progression
- By around 20 years

Answer 16

Upper body function is lost
Become almost entirely dependent on a carer

Question 17

Clinical progression
- 30 years and beyond

Answer 17

Respiratory and cardiac failure lead to early death

Question 18

Posture

Answer 18

Shoulders and arms held back awkwardly when walking
Sway back
Weak butt muscles
Knees may bend back
Thick lower leg muscles (mostly fat)
Tight heel cord (walk on toes)
Belly sticks out d/t weak belly muscles
Thin, weak thighs
Poor balance; falls often
Weak muscles in front of the leg (foot drop) and tip-toe contractures

Question 19

Glucocorticoid use in DMD

Answer 19

Weekly treatment
Promote muscle membrane repair and muscle recovery
Delays loss of lower extremity milestones by 2-4 years, upper extremity milestone by 2.8-8 years
Reduction in risk of death

Question 20

Glucocorticoid use in DMD
- Side effects

Answer 20

Weight gain
Weak bones
High blood pressure and behavior changes
Muscle weakness and atrophy

Question 21

PT evaluation

Answer 21

Family Interview
Neuromotor development
ROM
Muscle performance and strength
Posture
Gait, locomotion and balane
Aerobic capacity and endurance
Assistive and adaptive devices
Integumentary status
Self-care and home management
Ventilation/respiration
Env’t, home, and job/school/play barriers
Community and work integration

Question 22

PT Evaluation Pt. 2

Answer 22

Pulmonary function
Ambulatory/Functional Assessment
Falls and complaints of fatigue

Question 23

PT evaluation
- pulmonary function

Answer 23

6- minute walk test

Question 24

PT evaluation
- ambulatory/functional assessment

Answer 24

Vignos functional rating scale
North star ambulatory assessment

Question 25

PT evaluation - Falls and complaints of fatigue

Answer 25

8-10 y/o Risk of fractures

Question 26

PT Management

Answer 26

Muscle strengthening Prevent contractures Adpative devices

Question 27

PT Management - Muscle strengthening

Answer 27

Submaximal endurance exercise program Monitor for fatigue Strengthening abdominals, hip extensors and abductors and knee extensors

Question 28

PT Management - Muscle strengthening--> avoid

Answer 28

Avoid resistance training, eccentric strengthening and immobilization

Question 29

PT Management - Muscle strengthening--> exercises

Answer 29

Cycling Swimming

Question 30

PT Management - Prevent contractures

Answer 30

Regular stretching Stretch gastrocnemius-soleus, HS and TFL Stretch hip flexors when tightness is observed Home stretching program Night splints to reduce ankle contractures

Question 31

PT Management - Assistive devices

Answer 31

Walker/Scooter/stroller Motorized/manual wheelchairs Adaptive equipment/alternate strategies for dressing, transfers, bathing, grooming, and feeding

Question 32

PT goals for adolescents with DMD

Answer 32

Submax endurance program for the upper limb Con't gentle stretching of lower limb muscles After ambulation is lost Use custom molded seating inserts, corsets, and modular seating inserts

Question 33

PT goals - Submax endurance program for the upper limb

Answer 33

Strengthen shoulder depressors, triceps, shoulder flexors and abductors and elbow flexors

Question 34

PT goals - Stretching of lower limbs

Answer 34

Add stretching for long finger flexors, shoulder flexors and abductors, elbow extensors, forearm supinator, and wrist extensors

Question 35

PT goals - After ambulation is lost

Answer 35

Use a standing program with splinting to maintain bone, muscle and joint properties