Updated: 6/16/2021

Arthrogryposis

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  • summary
    • Arthrogryposis is a non-progressive congenital disorder of unknown etiology that presents with multiple rigid joints leading to stiffness and severe limitation in motion in all 4 limbs.
    • Diagnosis is made clinically with presence of concomitant elbow and knee hyperextension contractures, shoulder internal rotation contractures, hands with intrinsic plus deformity and severe limitation in range of motion of all 4 limbs. Genetic and enzyme testing can be helpful in supplementing diagnosis.
    • Treatment is a multidisciplinary approach to address joint stiffness in all 4 limbs with a trial of bracing and casting followed by surgical soft tissue release or osteotomies as necessary. 
  • Epidemiology
    • Incidence
      • 1:3000 live births
  • Etiology
    • 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 
        • teratologic hip subluxation and dislocation
        • knee contractures
        • foot conditions
          • clubfoot
          • vertical talus
        • neuromuscular C-shaped scoliosis (33%)
        • fractures (25%)
  • Prognosis
    • Nonambulatory (25%)
  • Classification
    • Arthrogryposis classification 
      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
        • 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
          • Upper extremity treatment table
            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
  • Teratologic Hip Subluxation & Dislocation
    • Introduction
      • present in 68-80% of patients with arthrogryposis
    • Treatment
      • nonoperative
        • observation alone
          • observe alone while addressing other hand/foot deformities
          • indications
            • bilateral dislocations (controversial)
            • unilateral dislocation in older child (controversial)
        • Pavlik harness and rigid abduction brace are unlikely to succeed
      • operative
        • closed reduction
          • indications
            • rarely successful
        • medial open reduction with possible femoral shortening
          • done at ‚Č• 6 months of age
          • indications
            • unilateral teratologic 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 angulation 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
      • treatment
        • operative
          • soft tissue releases
            • indications
              • first line of treatment
          • talectomy
            • indications
              • if deformities recur despite soft tissue releases

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Questions (5)
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(OBQ06.30) All of the following are characteristic findings in a patient with arthrogryposis EXCEPT:

QID: 141
1

Normal cognition

11%

(211/2004)

2

Internal rotation contractures of the shoulder

5%

(110/2004)

3

Symmetrical extremity deformity

19%

(383/2004)

4

Progressive joint contractures which peak at skeletal maturity

50%

(992/2004)

5

Bilateral hip dislocation

15%

(303/2004)

L 4 C

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Evidence (6)
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EXPERT COMMENTS (15)
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