This document discusses arthrogyposis multiplex congenita (AMC), which affects joint development in fetuses, resulting in limited mobility and physical deformities at birth. AMC is caused by lack of fetal movement in the womb, which allows extra connective tissue and joint fixation to form. It has a genetic basis or can be caused by neurological or muscular disorders that impact motor function in utero. Children with AMC exhibit characteristic symmetric and rigid joint contractures at multiple sites. Management involves stretching, splinting, surgery and adaptive equipment to improve range of motion and functional skills at each stage of development.

1. ARTHROGRYPOSIS MULTIPLEX
CONGENITA
-By Dr. Rima Jani
(PT)
(M.P.T. Pediatric
Science)

2. ARTHROGRYPOSIS MULTIPLEX
CONGENITA
 The term arthrogryposis is
derived from Greek and it
means “bent”.
 Other terms are
Amyoplasia Congenita &
Congenital
Arthromyodysplasia.

3. Arthro = joint
Gryposis = twisted
Multiplex = more than one
Congenita = seen at birth
The name doesn’t even refer to muscle, but muscle is
involved.
ARTHROGRYPOSIS MULTIPLEX
CONGENITA

4. ARTHROGRYPOSIS MULTIPLEX
CONGENITA
It affects the early development of
body joints in a fetus, most
commonly the large joints in the arms
and legs. An infant who is born with
the condition typically has limited
mobility and obvious physical
deformities in one or more joints.

5. ARTHROGRYPOSIS MULTIPLEX
CONGENITA
Also known as multiple congenital
contracture, is a non-progressive
disorder or rather syndrome
characterized by multiple joint
contracture and muscular weakness
or imbalance.
Incidence is 1 in 3000 to 1 in 4000
live birth.

6. PATHOPHYSIOLOGY
Lack of fetus movement in the womb
Extra connective tissue forms around joint
Joint fixation
Limited movement
Joint Contracture

7. ETIOLOGY
Disorder is related to a paucity early in fetal
development, leading to multiple contracture at
birth
Genetic mutation may be etiological factor.
Fetal immobility results in multiple joint
contracture, fibrosis of muscle, and fibrosis of the
periarticular structures

8. ETIOLOGY
It is associated with multiple neurogenic or myopathy disorder
that exhibit a defect in motor unit, including :
 The anterior horn cells,
 Roots,
 Peripheral nerve,
 Motor end plates, or
 Muscle
resulting in weakness and decreased fetal movement early in
development.

9. CLINICAL FEATURES
Featureless extremities that are often cylindrical in
shape with absent skin creases
Rigid joints with significant contractures
Dislocation of joints, especially the hips
Atrophy and even absence of muscle groups
Intact sensation but deep tendon reflexes are
diminished or absent

10. The infant’s contractures
are usually symmetric and
typically include shoulder
internal rotation, elbow
flexion or extension, wrist
flexion with UD, hip
flexion with either internal
rotation or frog-leg
posture, knee flexion or
extension and equinovarus
deformities of feet

11. DIAGNOSIS
Made based upon identification of characteristic symptoms
(e.g., Multiple congenital contractures), a detailed patient
history, and a thorough clinical evaluation.
Certain tests may be necessary to determine the underlying
cause of AMC including
 nerve conduction,
 electromyography and
 muscle biopsy, which can help diagnose neuropathic or
myopathic disorders.

12. DIAGNOSIS
3D-4D sonography during pregnancy may
help.
Radiography before planning surgery.
DNA tests to confirm genetic cause.

13. MANAGEMENT
Passive stretching through positioning, casting and
splinting.
Strengthening activities.
Developmental skills.
Surgical procedures.
Use of adaptive or rehabilitation equipment.

14. MANAGEMENT : INFANT
Begin shortly after birth : Positioning and passive
stretching exercise.
First few months after birth : Serial casting begins for—
• foot deformities,
• knee flexion contracture and
• wrist flexion contracture

15. • Caution must be used to stretch only to end range and
maintain the stretch with a cast or a splint
• Forceful aggressive stretching of a rigid joint can result in
damage to the joint capsule and surrounding soft tissue
• Any gains in ROM must be maintained with a splint or
positioning device otherwise contracture will recur
MANAGEMENT : INFANT

16. • Usually between 6 to 12 months of age, residual
contracture at the feet and knee are surgically corrected
• It involves release of tight joint capsule and soft tissues
• Surgical correction is maintained by splinting,
strengthening exercise and active functional movement.
MANAGEMENT : INFANT

17. For example….
• Lower limb : A child who had a bilateral release of
posterior structures of ankle to correct equinovarus
deformity should have a splint fabricated to maintain the
ROM as well as begin a standing program with the use of
a standing device or ambulation aid.
• Upper limb : For optimum function and independence
with self-care skills, the child should have the ability to
flex and extend the elbow
MANAGEMENT : INFANT

18. During this age range, the
child should develop some
mobility skills
Rolling is often difficult
secondary to lower extremity
contracture
Some children may scoot on
floor on their belly or their
back initially

19. Most children can learn to sit but
have difficulty achieving the sitting
position independently
From sitting, floor mobility should
be encouraged
Creeping on hands and knees is
often difficult and children learn to
scoot on their bottom
Pulling to stand may be limited by
contracture of lower extremity

20. MANAGEMENT : 1 YEAR TO PRE-
SCHOOL
• The goal at this age is to develop
the maximum level of
independence with mobility and
self-care skills.
• Ambulation is possible for many
children with Assistive Mobility
Device.
• Upper extremity skill focus on
feeding and dressing activities.

21. • Maintenance of acquired ROM is
crucial
• Strengthening exercise through
age-appropriate activities, as
well as specific mobility training
are incorporated in training
MANAGEMENT : 1 YEAR TO PRE-
SCHOOL

22. MANAGEMENT : SCHOOL AGE
• The goal is to highlight the
functional impairments that
may exist for a child with
AMC
• Child’s ambulation speed
may be slow compared with
his or her peers, and fine
motor difficulty may
interfere with his or her peer
interaction.

24. THANK YOU…