Bone and connective tissue disorders

Question 1

What is osteogenesis imperfecta?

Answer 1

• Collagen disorder that causes defects in bone mineralization and osteoblast differentiation
• Causes bones to be fragile/prone to fracture
• Lower capacity for energy absorption
• Decreased cortical thickness and weaker trabecular structure

Question 2

What are the types of osteogenesis imperfecta?

Answer 2

• Type I is mildest and most common
• Type II is most severe; results in death at or shortly after birth
• Type III is most seere that is compatible with life

Question 3

Typical orthopedic deformities of osteogenesis imperfecta

Answer 3

• Vertebral compression/collapse
• Coxa vara
• Bowing or shortening of long bones
• Atypical bone appearance
• Short stature
• Barrel-shaped chest
• Triangular shaped face

Question 4

Other symptoms of osteogenesis imperfecta

Answer 4

• Joint laxity
• muscle weakness
• Blue, purple, or grey tint of the sclera
• Cardiopulmonary involvement
• Possible hearing loss
• Basilar invagination - top of spine presses into the base of the skull/brain

Question 5

Pharmacological therapy for osteogenesis imperfecta

Answer 5

• Antiresorptive biphosphonates
• Vitamin D
• Anabolic antisclerostin antibody

Question 6

How are fx managed for osteogenesis imperfecta?

Answer 6

• Family and child educated and trained to immobilize at time of fx
• Flexible immobilization may be better
• Average time of consolidation is faster in children with OI due to rapid bone turnover
• Surgery for rod fixation/stabilization may be necessary

Question 7

What are PT goals for patients with osteogenesis imperfecta?

Answer 7

• Promote motor development
• Improve aerobic capacity, muscle strength, and coordination
• Reduce fatigue
• Relieve muscle pain
• Rehab after fx
• Regain postural control

Question 8

What would PT rehab program look like for a patient with osteogenesis imperfecta?

Answer 8

• Weight bearing activities
• Isometrics
• Muscular strengthening
• Functional activities
• Create safe, stimulating environmnets to stimulate development, increase physical function and maximize independence

Question 9

What is Marfan syndrome?

Answer 9

• Autosomal dominant genetic disorder that affects the body’s ability to make fibrillin (part of connective tissue)
• Affects heart, vessels, bones, joints, eyes, lungs, and nervous system

Question 10

Characteristics of Marfan syndrome

Answer 10

• Long arms, legs, and fingers
• Tall, thin body type
• Curved spine
• Flexible joints
• Pectus excavatum
• Flat feet
• Crowded teeth
• Stretch marks unrelated to weight gain or loss

Question 11

Associated medical issues with Marfan syndrome

Answer 11

• Aortic dilation and dissection - increased risk with high BP and HR
• Mitral valve prolapse
• Pneumothorax
• Lung problems (asthma, pneumonia, bronchitis, etc.)
• Eye problems (myopia, dislocated lens, detached retina)

Question 12

What should PT screen for Marfan syndrome?

Answer 12

• Aorta - palpate for AAA
• Arm span to body height - Marfan syndrome patients have arm span:body ratio of > 1.05
• Wrist sign - positive when tip of thumb covers fingernail of pinky when wrapped around contralateral wrist
• Thumb sign - positive when entire distal phalanx of adducted thumb extends beyond ulnar border

Question 13

Aerobic exercise guideline for Marfan syndrome

Answer 13

• Regular mild-moderate aerobic exercise
• Not greater than 50% of aerobic capacity; not more than 110 BPM (or not greater than 100 BPM if taking beta-blockers)
• Increased stress on weakened vessels increase potential for rupture of aneurysm

Question 14

What is Ehlers-Danlos Syndrome?

Answer 14

• Connective tissue disorder with defects in coding for fibrillar collagen & modifying enzymes
• Non-collagen glycoprotein, matrix glycoprotein and proteoglycan synthesis

Question 15

Characteristics of Ehlers-Danlos Syndrome

Answer 15

• Joint hypermobility - subluxation and pain
• Skin hypermobility - easy bruising and poor wound healing
• Tissue fragility - depends on type
• Orocranialfacial, neurmuscular, and opthalmological complications

Question 16

PT plan for Ehlers-Danlos Syndrome

Answer 16

• Stabilization with external methods (taping, splinting) or internal methods (strengthening and pt education)
• Reduce pain and fatigue
• Increase strength, bodily awareness, balance training, core strengthening
• Orthoses if needed

Question 17

What is the Beighton scale for?

Answer 17

• Hypermobility scale for Ehlers-Danlos Syndrome
  1. Apposition of thumb to forearm
  1. Dorsiflexion of MCP joint to 90 degrees
  1. Hyperext of elbow greater than 10 degrees
  1. Hyperext of the knee greater than 10 degrees
  1. Forward flex with hands flat on floor and knees extended