Duchenne Muscular Dystrophy Flashcards
Muscular dystrophy
Cause of muscle weakness is attributable to the pathology confined to the muscles
Who is more affected by DMD?
Boys because dystrophin gene is on the X chromosome
Duchenne Muscular Dystrophy
Deficient dystrophin
Diagnosis
Genetic testing
Muscle biopsy
Electromyography (EMG)
Muscle ultrasound
Blood levels of CPK (creatine phosphokinase)
Clinical presentation
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
Clinical presentation
- progressive condition
Muscle weakness
Contractures
Deformities
Progressive disability
Clinical presentation
- Developmental milestone may be delayed
Bayley-III scales can show lower scores for infants and young children with DND
Clinical presentation
- Proximal muscles
Shoulder and pelvic girdles
Clinical presentation
- Secondary impairments
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
Clinical Progression
- Infancy
Delayed motor milestone such as walking, delayed speech
Clinical progression
- Early childhood
Unable to keep up with peers or to climb stairs
Raises from floor using Gower’s maneuver
Clinical progression
- From age 5 years
Abnormal movements (waddling gait, toe walking)
Clinical progression
- From age 7 years
Walking becomes increasingly difficult
May need a scooter or wheelchair after walking long distances
Clinical progression
- Up to 13 years
Loss of independent ambulation (increasing use of w/c)
Clinical progression
- After loss of ambulation
Loss of self-feeding and respiratory, orthopedic, and cardiac complications
Clinical progression
- By around 20 years
Upper body function is lost
Become almost entirely dependent on a carer
Clinical progression
- 30 years and beyond
Respiratory and cardiac failure lead to early death
Posture
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
Glucocorticoid use in DMD
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
Glucocorticoid use in DMD
- Side effects
Weight gain
Weak bones
High blood pressure and behavior changes
Muscle weakness and atrophy
PT evaluation
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
PT Evaluation Pt. 2
Pulmonary function
Ambulatory/Functional Assessment
Falls and complaints of fatigue
PT evaluation
- pulmonary function
6- minute walk test
PT evaluation
- ambulatory/functional assessment
Vignos functional rating scale
North star ambulatory assessment
PT evaluation
- Falls and complaints of fatigue
8-10 y/o
Risk of fractures
PT Management
Muscle strengthening
Prevent contractures
Adpative devices
PT Management
- Muscle strengthening
Submaximal endurance exercise program
Monitor for fatigue
Strengthening abdominals, hip extensors and abductors and knee extensors
PT Management
- Muscle strengthening–> avoid
Avoid resistance training, eccentric strengthening and immobilization
PT Management
- Muscle strengthening–> exercises
Cycling
Swimming
PT Management
- Prevent contractures
Regular stretching
Stretch gastrocnemius-soleus, HS and TFL
Stretch hip flexors when tightness is observed
Home stretching program
Night splints to reduce ankle contractures
PT Management
- Assistive devices
Walker/Scooter/stroller
Motorized/manual wheelchairs
Adaptive equipment/alternate strategies for dressing, transfers, bathing, grooming, and feeding
PT goals for adolescents with DMD
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
PT goals
- Submax endurance program for the upper limb
Strengthen shoulder depressors, triceps, shoulder flexors and abductors and elbow flexors
PT goals
- Stretching of lower limbs
Add stretching for long finger flexors, shoulder flexors and abductors, elbow extensors, forearm supinator, and wrist extensors
PT goals
- After ambulation is lost
Use a standing program with splinting to maintain bone, muscle and joint properties
