What is the treatment for arthrogryposis?

Treatment of Arthrogryposis

The treatment of arthrogryposis requires early intervention with intensive passive stretching and serial splinting as the primary approach, followed by surgical procedures only when persistent deformities require correction. 1

Understanding Arthrogryposis

Arthrogryposis multiplex congenita (AMC) is a condition characterized by multiple joint contractures present at birth. The most common form is amyoplasia, accounting for approximately 40% of cases, which involves replacement of skeletal muscle by dense fibrous tissue and fat 2. The clinical presentation varies widely, with involvement of:

• Hands, wrists, elbows, and shoulders
• Hips, knees, and feet
• Spine and jaw in some cases

Treatment Approach

Early Non-Surgical Management

1. Passive Stretching and Physical Therapy

   • Begin immediately after diagnosis
   • Daily intensive passive stretching of contracted joints 1
   • Should be performed consistently and frequently

2. Serial Splinting and Casting

   • Follow stretching with functional splinting or plaster casts 3
   • Custom-made orthoses to maintain improved positions
   • Regular adjustments as range of motion improves

3. Rehabilitation

   • Focus on maximizing function and independence
   • Adaptive equipment as needed for activities of daily living

Surgical Interventions

Surgical procedures should be considered only when non-surgical methods fail to achieve adequate correction 1. The timing and type of surgery depend on the specific joint involvement:

1. Upper Extremity Surgery

   • Goal: Provide one extremity that can reach the mouth for feeding/hygiene and one that can support body weight 3
   • Procedures:
     • Soft tissue releases for contracted major joints
     • Tendon transfers to provide dynamic force and useful motion
     • Note: Small joint surgery in the hand often decreases mobility further and should be approached cautiously 3

2. Lower Extremity Surgery

   • Foot Deformities: Surgical release may be necessary for clubfoot that fails Ponseti method 4
   • Knee Deformities: Surgical intervention for severe flexion contractures or extension limitations
   • Hip Deformities: Surgical treatment for hip dislocations with variable outcomes 4

Joint-Specific Management

Foot Deformities

• Talipes equinovarus (clubfoot) is common
• Initial treatment with Ponseti method
• High recurrence rate (67%) requiring surgical release 4

Knee Deformities

• Treatment primarily through rehabilitation
• Surgery reserved for severe cases

Hip Deformities

• Dislocation treated orthopaedically when possible
• Surgical intervention may be required with persistent stiffness 4

Upper Extremity

• Physical therapy and orthotics show better improvement in wrist and fingers compared to proximal joints 4
• Shoulder and elbow contractures are more difficult to treat

Long-Term Considerations

• Deformity recurrence is common, particularly in skeletally immature patients 2
• Multidisciplinary care should be early and continued to maximize autonomy
• Focus on facilitating social integration and independence 4

Pitfalls and Caveats

• Small joint surgery in the hand often decreases mobility further rather than improving it 3
• Surgical correction should focus on functional goals rather than cosmetic appearance
• Recurrence of deformities is common and may require repeated interventions
• Treatment success varies widely depending on severity and specific type of arthrogryposis

The ultimate goal of treatment is to maximize functional independence and quality of life, with interventions tailored to the specific pattern of joint involvement and severity of contractures.