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Arthrogryposis

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Topic updated on 07/29/16 12:20pm
Introduction
  • Nonprogressive congenital disorder involving multiple rigid joints (usually symmetric) leading to severe limitation in motion 
  • Epidemiology
    • incidence 1:3000 live births
  • Mechanism
    • symmetry of contractures due to immobilization in utero 
      • neurogenic (90%)
      • myopathic (10%)
  • Pathophysiology
    • exact mechanism unknown
      • some mothers have serum antibodies inhibiting the fetal acetylcholine receptors leading to a decreased number of anterior horn cells
  • Associated conditions
    • orthopaedic manifestations
      • upper extremity deformity (see below)
      • hip subluxation and dislocation
      • knee contractures
      • foot conditions
        • clubfoot
        • vertical talus
      • neuromuscular C-shaped scoliosis (33%)
      • fractures (25%)
  • Prognosis
    • nonambulatory (25%)
Classification
 
Type
Characteristics
Type I Single localized deformity (e.g., forearm pronation)
Type II Full expression (absence of shoulder muscles, thin limbs, elbows extended, wrists flexed and ulnarly deviated, intrinsic plus deformity of hands, adducted thumbs, no flexion creases)
Type III Full expression (type II) with polydactyly and involvement of non-neuromuscular systems
 
Presentation
  • Physical exam
    • inspection & palpation 
      • shoulders adducted and internally rotated (absense of shoulder muscles)
      • elbows extended (no flexion creases)
      • wrists flexed and ulnarly deviated
      • hands with intrinsic plus deformity topic
      • thumb adducted
      • hips flexed, abducted, and externally rotated
        • subluxation or teratologic dislocation common
      • knees extended (classical), most of the time flexed
      • clubfeet
      • normal intelligence, facies, sensation, and viscera
    • range of motion
      • severely limited usually involving all four extremities
Studies
  • Perform at 3-4 months of age
    • neurologic studies
    • enzyme tests
    • muscle biopsies
Upper Extremity Deformity
  • Treatment
    • goals
      • allow optimal function to increase ability to drive an electric chair and use computer assisted devices
      • one elbow in extension for positioning and perianal care and one elbow in flexion for feeding
    • nonoperative
      • passive manipulation and serial casting
        • indications
          • first line of treatment
    • operative
      • soft tissue releases, tendon transfers, osteotomies
        • indications
          • consider after age 4 to allow independent eating
    Deformity
    Procedure
    Elbow extension Triceps V-Y lengthening and posterior capsulectomy at 1.5 to 3 years (4 yrs and older?)
    Wrist palmar flexion and ulnar deviation Flexor carpi ulnaris release, lengthening and/or transfer to wrist extensors; dorsal carpal closing wedge osteotomy
    Thumb in palm contracture and syndactyly Z-plasty syndactly release
    Finger defomity PIP arthrodesis
Hip Subluxation & Dislocation
  • Introduction
    • present in 68-80% of patients with arthrogryposis
  • Treatment
    • nonoperative
      • observation alone 
        • indications
          • bilateral dislocations (controversial)
          • unilateral dislocation in older child (controversial)
      • Pavlik harness is contraindicated
    • operative
      • closed reduction
        • indications
          • rarely successful
      • medial open reduction with possible femoral shortening
        • indications
          • unilateral dislocation  
        • may lead to worse function if it leads to a hip flexion contracture because flexion deformities worsen the patient's gait
Knee Contractures
  • Treatment
    • operative
      • soft tissue releases (especially hamstrings)
        • indications
          • flexion contracture >30 degrees
          • best performed early (6-9 months of age) 
          • perform before hip reduction to assist in maintenance of reduction
      • femoral shortening through guided growth (epiphysiodesis)
        • indications
          • useful in conjunction with osteotomies
        • outcomes
          • may not effectively correct chronic poor quadriceps function
      • supracondylar femoral osteotomy
        • indications
          • may be needed to correct residual deformity at skeletal maturity
Foot Conditions
  • Clubfoot 
    • treatment
      • nonoperative
        • Ponseti casting 
          • indications
            • useful in many patients
      • operative
        • soft tissue release
          • indications
            • first line of treatment in rigid clubfoot
            • failed Ponseti casting in more flexible types
        • talectomy vs. triple arthorodesis
          • indications
            • failed soft tissue releases
            • triple arthrodesis in adolescence
  • Vertical Talus topic
    • treatment
      • operative
        • soft tissue releases
          • indications
            • first line of treatment
        • talectomy
          • indications
            • if deformities recur despite soft tissue releases

 

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(OBQ06.30) All of the following are characteristic findings in a patient with arthrogryposis EXCEPT: Topic Review Topic

1. Normal cognition
2. Internal rotation contractures of the shoulder
3. Symmetrical extremity deformity
4. Progressive joint contractures which peak at skeletal maturity
5. Bilateral hip dislocation

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