Arthrogyposis Multiplex Congenita

Question 1

What is Athrogryposis Multiplex Congenita

Answer 1

• A group of non-progressive
  neuromuscular syndromes characterized by:
• Severe joint contractures
• Muscle weakness
• Fibrosis
• Present at birth

Question 2

AMC characteristics

Answer 2

• At least 300 individual diseases
• Most common: Amyoplasia – symmetrical involvement affecting both the upper and lower extremities.
• Neurogenic and myopathic weakness immobilizes the fetal joints (akinesia) leading to joint contractures –> Anterior horn cells and Decreased amniotic fluid throughout the
  first trimester

Question 3

AMC Etiology

Answer 3

• questionable
• Maybe…
• Fetal hyperthermia resulting from maternal infections
• Fetal crowding
• Neurologic deficits
• Muscle defects
• Vascular and nutritional disorders

Question 4

AMC Diagnosis

Answer 4

• Clinically based – No definitive lab tests
• If decreased fetal movement is identified via standard clinical ultrasound, a level II ultrasound is indicated to identify individual anomalies

Question 5

3 subgroups of AMC

Answer 5

• Contractures mainly involving the limbs (Amyoplasia)
• Limb contractures with coexisting abnormalities of other systems (Nail-patella
  syndrome, Larsen’s dysplasia)
• Limb contractures with CNS abnormalities (Lethal multiple pterygium syndrome)

Question 6

Affected body parts

Answer 6

• Foot (78-95%)
• Hip (60-82%)
• Wrist (43-81%)
• Knee (41-79%)
• Elbow (35-92%)
• Shoulder (20-92)

Question 7

COMMON CLINICAL PRESENTATIONS: JACKKNIFE

Answer 7

• Hip flexion and dislocation
• Knee extension
• Clubfeet (talipes equinovarus)
• Should internal rotation and adduction
• Elbow flexion
• Wrist flexion and ulnar deviation
• Spinal deformity may be present

Question 8

Common clinical presentations: Frog-Like

Answer 8

• Hip abduction and external rotation
• Knee flexion
• Clubfeet (talipes equinovarus)
• Should internal rotation and adduction
• Elbow extension
• Wrist flexion and ulnar deviation
• Spinal deformity may be present

Question 9

Orthopedic ongoing concerns

Answer 9

• pain
• gaining joints

Question 10

social ongoing concerns

Answer 10

• employment
• housing
• caregivers
• accessible social activities
• friends and partners

Question 11

self care ongoing concerns

Answer 11

• dressing/toileting
• daily household chores
• carry large/heavy objects

Question 12

ongoing mobility concerns

Answer 12

• Building access
• Door knobs
• Stairs/curbs/uneven terrain
• In/out of cars
• Tight spaces
• Reaching above shoulders/below waist
• Public restrooms

Question 13

Examination - ROM

Answer 13

• Goniometry
• Performed as soon as possible after birth with serial measurements (monthly during infancy)
• Active
• Passive
• Resting joint position
• During functional activities

Question 14

Examination - Strength/ muscle performance

Answer 14

• Infancy: palpation, ability of extremities to move against gravity, and during functional
  activities
• MMT
• Dynamometry
• Lower extremity extensor strength is especially important for determining: Standing/Ambulatory abilities; Recommendation for appropriate orthoses

Question 15

Examination - Pain

Answer 15

• pain with mobility
• aching, throbbing, tiring, cramping, tender
• feet, ant knees, spine

Question 16

Examination - Developmental/ Gross Motor Testing

Answer 16

• No formal developmental or activity-based gross motor assessment tools
• Infants-children typically present with significant gross motor delay because ROM
  limitations and weakness impede attainment of gross motor milestones

Question 17

Examination - Compensatory Gross Motor Skills - Floor Mobility

Answer 17

• Rolling
• Scooting in sitting

Question 18

Interventions - Clubfoot

Answer 18

• serial manipulation and casting
• Percutaneous tendo-achilles lengthening
• Denis- Browne shoes and bar
• Surgical: posterior-medial release

Question 19

Stretching for hip and knee management

Answer 19

• 3-5 times/day (will decrease once the child begins school)
• 3-5 repetitions
• Hold for 20-30 seconds
• Perform during one-on-one time with caregiver

Question 20

Hip and knee management - positioning

Answer 20

• prone
• modified long sitting
• supported standing

Question 21

Hip and knee mangement - splinting/ casting

Answer 21

• Thermoplastic splinting
• Adjusted every 4-6 weeks
• Dynamic splinting
• Serial casting

Question 22

Hip and knee mangement - strengthening

Answer 22

• developmental fascination and play
• Floor mobility: Promote rolling or scooting while sitting * Sitting: Can maintain prior to assuming
• Delayed (15 mo) but can achieve through trunk flexion and rotation
• Standing: Can maintain prior to assuming
• Delayed depending on clubfoot and knee/hip flexion contracture correction
• Adjunct: Aquatic therapy

Question 23

Hip and knee management - Bracing/ Orthosis

Answer 23

• AFO
• KAFO
• HKAFO (with or without a pelvic band)
• Choice will be dependent upon: contracture severity, extensor strength, and mobility goals

Question 24

Hip and knee management - Assistive technology

Answer 24

• Assistive devices (Walker and crutches)
• Wheelchairs (Manual and Power)
• Mobile arm supports
• Assisted feeding devices

Question 25

Hip and knee surgical intervention - Epiphysiodesis

Answer 25

• guided growth modulation
• knee flexion contracture

Question 26

Hip and knee surgical intervention - Soft tissue release

Answer 26

• Hip flexors
• Hip Abductors
• Hamstrings
• Quadiceps
• Posterior knee capsulotomy
• Plantar Flexors

Question 27

Hip and knee surgical intervention - osteotomy

Answer 27

• distal demoral extension osteotomy
• joint spanning external fixators
• WBAT

Question 28

Post operative therapeutic management considerations

Answer 28

• Physician-specific post-operative protocols
• Weight bearing restrictions
• Gait and mobility training/assistive device usage
• Wound/incision/pin-site management