Arthrogryposis Multiplex Congenita (AMC) Flashcards
AMC is NON-Progressive
NON-progressive****
What is AMC?
NON-progressive NMSK syndrome present @ birth
Characterized by severe jt contractures, mm weakness, fibrosis
Artwork 1700’s, addressed 1950’s
AMC Defined
Defined by presence of contractures in 2 or more body areas***
AMC Incidence/Etiology
- 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***
6 Causes of Decd Fetal Mvmt:
- Maternal illness
- Fetal Crowding→ twins, etc.
- Neuro defs
- Vascular compromise
- Connective tissue/skeletal defects
- MM defects
Dx of AMC
- 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
Dx of AMC
Dr. Polumbo said this about In-Utero
KNOW IT!!!
Lt-mod exercise
Deep Breathing
NO Caffeine
AMC Clinical Manifestations
- 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***
Two Main Types AMC:
Jackknifed vs. FrogLike
2 Main Types of AMC:
JACKKNIFED
*bold= also found in Froglike
- Flexed/dislocated hips
- Extd knees
- Clubfeet* (equinovarus)
- IR shoulders*
- Flexed elbows
- Flexed and ulnarly deviated wrists*
2 Main Types AMC:
FROGLIKE
bold*= also found in JACKKNIFED
- ABD and ER hips
- Flexed knees
- Clubfeet* (equinovarus)
- IR shoulders*
- Extd Elbows
- Flexed and Ulnarly deviated wrists*
JACKKNIFED vs. FROGLIKE
Only Differences
-
Jackknifed:
- Flexed/disloc’d hips
- Extd knees
- Flexed elbows
-
FrogLike:
- ABD/ER hips
- Flexed knees
- Extd elbows
JACKKNIFE VS FROGLIKE
Similarities:
Clubfeet* (equinovarus)
IR Shoulders*
Flexed and Ulnarly deviated wrists*
Medical Mgmt AMC:
Well-timed Sx mgmt
-
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
Hip Dislocations and AMC and fix or leave alone
- 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
PT Exam in Infancy AMC:
- 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.
PT Exam in Infancy AMC
Formal assessments used but reflect poorly bc strength and ROM limits preclude achievement of many motor milestones*
Some used:
AIMS, Bayley, PDMS-2, PEDI, WeeFIM
PT Goals Infancy AMC
- Max. strength and ROM
- Enhance gen. sensorimotor dev.
- Fam/parent edu.
-
Pos’ing for optimal functioning***
- splints, casting, bracing
Interventions Strategies Infancy
JackKnife positioning (see pics)
- 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
Intervention Strategies Infancy
FrogLegged Type
- 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
Intervention Strategies for Infancy AMC
Therapy focus on…
-
Therapy focus: Functional Skills
- Rolling, sitting, hitching on butt, standing, ambulation
- Goal→ maximize part. w/ peers
Intervention Strategies Infancy
Strengthening:
Transitional mvmts and play
S/L can be functional
*Aquatic tx often recommended
Intervention Strategies Infancy
Standing
- Encouraged thru standing frames and orthotics
- 6mos*** → should tolerate 2hrs
*Floor→stand and sit→stand emerge when amb begins
Stretching and Splinting
“Young children respond most readily to conserative tx using serial splinting, freq stretching, proper pos’ing”→ Donohue
- 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.
PT Exam Preschool-Adolescence
- ROM closely monitored
- Functional mm strength→ det’s bracing needed
- test in total Arc of motion
- Functional mobility/gait, balance, endurance
PT Goals/Interventions Preschool-Adolescence
- 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
Intervention Strategies Preschool-Adolescence
Social/ADLs
- Encourage social skill attainment
- encourage part. w/ non-disabled peers→ confidence/social skills/cog
-
Team approach to IND w/ ADLs
- adapted equip, toileting, dressing
PT Considerations in Adolescence
What happens and what negative results they can have during this time
- 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
Transition to Adulthood
- 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
Take-Home Message AMC:
- 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
