Arthrogryposis Multiplex Congenita (AMC)

Question 1

AMC is NON-Progressive

Answer 1

NON-progressive****

Question 2

What is AMC?

Answer 2

NON-progressive NMSK syndrome present @ birth

Characterized by severe jt contractures, mm weakness, fibrosis

Artwork 1700’s, addressed 1950’s

Question 3

AMC Defined

Answer 3

Defined by presence of contractures in 2 or more body areas***

Question 4

AMC Incidence/Etiology

Answer 4

• Etiology unclear
• Insult occurs First Trimester
• MMs form normally→ replaced by fibrous fatty tissue during fetal dev.
• Basic mechanism→ DECd fetal mvmt in-utero
  
  • 6 Primary reasons for lack of mvmt***

Question 5

6 Causes of Decd Fetal Mvmt:

Answer 5

1. Maternal illness
2. Fetal Crowding→ twins, etc.
3. Neuro defs
4. Vascular compromise
5. Connective tissue/skeletal defects
6. MM defects

Question 6

Dx of AMC

Answer 6

• No definitive prenatal test or preventative measures*
• Blood work, CVS, amniocentesis typ inconclusive
• High-lvl US is MD suspects
• Post-natally→ mm biopsy, blood work, clinical findings can R/O other dx

Question 7

Dx of AMC

Dr. Polumbo said this about In-Utero

KNOW IT!!!

Answer 7

Lt-mod exercise

Deep Breathing

NO Caffeine

Question 8

AMC Clinical Manifestations

Answer 8

• Great variation, BUT gen. include:
  
  • Severe jt contractures, lack of mm dev. (Amyoplasia***)
• Typ impacted body parts: in order MOST→LEAST
  
  • Foot (78-95%)
  • Hip (60-82%)
  • Wrist (43-81%)
  • Knee
  • Elbow
  • Shoulder
• 2 Common Variations***

Question 9

Two Main Types AMC:

Answer 9

Jackknifed vs. FrogLike

Question 10

2 Main Types of AMC:

JACKKNIFED

*bold= also found in Froglike

Answer 10

• Flexed/dislocated hips
• Extd knees
• Clubfeet* (equinovarus)
• IR shoulders*
• Flexed elbows
• Flexed and ulnarly deviated wrists*

Question 11

2 Main Types AMC:

FROGLIKE

bold*= also found in JACKKNIFED

Answer 11

• ABD and ER hips
• Flexed knees
• Clubfeet* (equinovarus)
• IR shoulders*
• Extd Elbows
• Flexed and Ulnarly deviated wrists*

Question 12

JACKKNIFED vs. FROGLIKE

Only Differences

Answer 12

• Jackknifed:
  
  • Flexed/disloc’d hips
  • Extd knees
  • Flexed elbows
• FrogLike:
  
  • ABD/ER hips
  • Flexed knees
  • Extd elbows

Question 13

JACKKNIFE VS FROGLIKE

Similarities:

Answer 13

Clubfeet* (equinovarus)

IR Shoulders*

Flexed and Ulnarly deviated wrists*

Question 14

Medical Mgmt AMC:

Well-timed Sx mgmt

Answer 14

• Well-timed Sx mgmt→ Limbs and Spine*
  
  • Foot sx gen. prolonged until child pulling sit→stand OR interested in standing
  • *Hip Dislocations:
    
    • U/L→ typ CORRECT
    • B/L→ typ DELAYED

Question 15

Hip Dislocations and AMC and fix or leave alone

Answer 15

• U/L→ typ CORRECT: bc prevent pelvic obliquity
• B/L→ typ DELAY: bc if no pain or asymm→ better to keep moving and avoid sx

Question 16

PT Exam in Infancy AMC:

Answer 16

• Exam immediately following birth!
• PROM: re-assess monthly
• Strength→ observe mvmts and palpate mm contracts
• Motor milestones→ delayed or skipped
  
  • Scooting is OK bc look @ jackknife or froglike→ very diff to get into crawling pos.

Question 17

PT Exam in Infancy AMC

Formal assessments used but reflect poorly bc strength and ROM limits preclude achievement of many motor milestones*

Some used:

Answer 17

AIMS, Bayley, PDMS-2, PEDI, WeeFIM

Question 18

PT Goals Infancy AMC

Answer 18

• Max. strength and ROM
• Enhance gen. sensorimotor dev.
• Fam/parent edu.
• Pos’ing for optimal functioning***
  
  • splints, casting, bracing

Question 19

Interventions Strategies Infancy

JackKnife positioning (see pics)

Answer 19

• Stretch hip flexors and pos’ing in prone
  
  • able to sit IND by 15mos (normal is 6mos)
• Scoot/rolling = primary means of mobility→ should be encouraged
• Typ stand when placed
• Usually attempt amb.
  
  • AFTER club foot sx w/ orthotics

Question 20

Intervention Strategies Infancy

FrogLegged Type

Answer 20

• More pos’ing options, BUT do not tolerate prone well due to extended elbows
• Towel roll/boppy pillow under chest→ assists w/ comfort
• Pos’ing for hips in neutral align.
  
  • Towel roll on Lat aspects of LEs or velcro strap to maint. pos.
• Tend to be slower to achieve rolling, but faster in attaining sitting/scooting
  
  • pos’s more eff/functional vs quadruped

Question 21

Intervention Strategies for Infancy AMC

Therapy focus on…

Answer 21

• Therapy focus: Functional Skills
  
  • Rolling, sitting, hitching on butt, standing, ambulation
  • Goal→ maximize part. w/ peers

Question 22

Intervention Strategies Infancy

Strengthening:

Answer 22

Transitional mvmts and play

S/L can be functional

*Aquatic tx often recommended

Question 23

Intervention Strategies Infancy

Standing

Answer 23

• Encouraged thru standing frames and orthotics
  
  • 6mos*** → should tolerate 2hrs

*Floor→stand and sit→stand emerge when amb begins

Question 24

Stretching and Splinting

“Young children respond most readily to conserative tx using serial splinting, freq stretching, proper pos’ing”→ Donohue

Answer 24

• Parents/caregivers edu’d stretching Day 1
• Stretching→ incorp into daily routine
• Prolonged stretch→ serial splints or orthoses to hold in lengthened yet comfy pos.

Question 25

PT Exam Preschool-Adolescence

Answer 25

• ROM closely monitored
• Functional mm strength→ det’s bracing needed
  
  • test in total Arc of motion
• Functional mobility/gait, balance, endurance

Question 26

PT Goals/Interventions Preschool-Adolescence

Answer 26

• Reduce disability, stretching/night pos’ing contd
• Enhance IND amb/mobility w/ minimal bracing/devices
  
  • Orthotics: least amt best but likely to start w/ more and gradual dec
  • AD choice
    
    • least restrictive best, environ changes to accommodate

Question 27

Intervention Strategies Preschool-Adolescence

Social/ADLs

Answer 27

• Encourage social skill attainment
  
  • encourage part. w/ non-disabled peers→ confidence/social skills/cog
• Team approach to IND w/ ADLs
  
  • adapted equip, toileting, dressing

Question 28

PT Considerations in Adolescence

What happens and what negative results they can have during this time

Answer 28

• Time when child gains IND and parental monitor of contractures DECs==> Poor outcomes
• Sx interventions for mgmt often postponed due to social schedule and HEP compliance plummets==> Further deformity
• May need to introduce alt. mobility methods==> Decd confidence/self-worth

Question 29

Transition to Adulthood

Answer 29

• Maint. ROM needed
  
  • orthoses contd for night pos’ing
  • stretching not as imperative 2* mature skeleton
• Functional limits→ prev defs not addressed
• Pain→ yrs of jt stress/damage
• Job type/living situation bc these indivs are bright and cog. intact

Question 30

Take-Home Message AMC:

Answer 30

• AMC is NON-progressive MSK disorder that impacts ROM, alignment, strength and functional mobility
• Thru correct medical/therapeutic intervention deficits can be mediated and 2* impairments limited