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ARTHROGRYPOSIS

Introduction

Arthrogryposis Multiplex Congenita is a symptom complex of congenital joint contractures associated with 300 different neurogenic and myopathic disorders.4 Although the contractures are present at birth, they do not worsen with age. However, they will recur after surgical correction if not properly managed postoperatively.  Symmetrical involvement of the upper and lower extremity joints occurs in the majority of patients with arthrogryposis.4    Arthrogryposis may be caused by amyoplasia, a distal arthrogryposis, connective tissue disorder, or fetal crowding.    These forms of arthrogryposis involve abnormal muscle function and/or muscle development.  In this group of arthrogrypotic patients there will be a normal neurological examination.   Multiple central nervous system disorders or neuromuscular disorders can also cause the arthrogryposis symptom complex.3

Incidence and Associated Conditions

  • Arthrogryposis is a rare condition with an estimated prevalence of 1 in 3000
  • Congenital clubfoot is the most common single type of contracture, with a prevalence of 1 in 500
  •  Upper extremity reconstructive surgery is required in approximately 48% of these shoulder with arthrogryposis.4

Associated Findings

  • Shoulders are adducted and rotated internally with a limited range of motion in 19% of patients with arthrogryposis.4,5
  • Elbows  and extension contractures with poor elbow flexors and 25% of the patients with  arthrogryposis.
  • Wrists are palmar flexed and deviated ulnarly.
  • Hands with intrinsic plus deformity.
  • Fingers gathered together with ulnar deviation, limited flexion, absent flexor creases and a windblown appearance of the hand.
  • Contractures are usually multiple and symmetrical.
  • Thumb-in-palm deformities are common.
  • Upper- and lower-limb muscle atrophy is diffuse.
  • Range of motion is severely limited, usually in all extremities.
ICD-10 Codes

  • ARTHROGRYPOSIS

    Diagnostic Guide Name

    ARTHROGRYPOSIS

    ICD 10 Diagnosis, Single Code, Left Code, Right Code and Bilateral Code

    DIAGNOSISSINGLE CODE ONLYLEFTRIGHTBILATERAL (If Available)
    ARTHROGRYPOSIS - CONGENITALQ68.8   
    - MULTIPLEX CONGENITAQ74.3   

    ICD-10 Reference

    Reproduced from the International statistical classification of diseases and related health problems, 10th revision, Fifth edition, 2016. Geneva, World Health Organization, 2016 https://apps.who.int/iris/handle/10665/246208

Clinical Presentation Photos and Related Diagrams
Arthrogryposis - Upper Extremity
  • Arthrogryposis wrist and Hand: 1. Wrist in classic palmar flexion and ulnar devotion position; 2. Hand with thumb-in-palm deformity and mild wind blown fingers.
    Arthrogryposis wrist and Hand: 1. Wrist in classic palmar flexion and ulnar devotion position; 2. Hand with thumb-in-palm deformity and mild wind blown fingers.
  • Arthrogryposis Shoulder and Elbow: 1.Shoulder internally rotated; 2. Elbow with an extension contracture
    Arthrogryposis Shoulder and Elbow: 1.Shoulder internally rotated; 2. Elbow with an extension contracture
Symptoms
Patients complaint of poor grasp and upper extremity deformities which necessitate crossover grasping.
Patients frequently cannot get their hand to their mouth for self-feeding.
Many patients cannot walk.
Typical History

The typical child with arthrogryposis presents with severe symmetrical deformities of both the upper and lower extremities.  In the lower extremity these patients typically have dislocation of the hips, extension contractures of the knees, and clubfoot deformities laterally. In the upper extremities the patient will have internal rotation of an abduction contractures of the shoulders, elbow extension contractures, wrist flexion contractures with windblown fingers and thumb and palm deformities in the hand.  These children usually have normal intelligence.  Typically these children will need reconstructive surgery and supportive physical therapy and occupational therapy throughout their growing years.  Some forms of arthrogryposis have a clear genetic component but many are sporadic.

Positive Tests, Exams or Signs
Work-up Options
Treatment Options
Treatment Goals
  1. Obtain and maintain joint mobility and muscle strength.
  2. Allow the child to perform activities of daily living independently.
  3. Allow the child to walk.
Conservative
  • Patients with arthrogryposis will need physical therapy and occupational therapy from the infant toddler years to the teenage years in order to maintain range of motion and strength.4
  • Serial cast stretching, static splinting, functional bracing.
Operative
  • Shoulder/arm - distal humeral external rotational osteotomy.
  • Elbow - posterior elbow capsulotomy;  triceps lengthening;  tendon transfers for elbow flexion;  ulnar nerve anterior transposition.
  • Wrist - dorsal carpal closing wedge osteotomy;  extensor carpi ulnaris to extensor carpi radialis brevis tendon transfer;  flexor carpi ulnaris and/or flexure carpi radialis tendon lengthenings.
  • Hand -  thumb-in-palm correction with first web deepening, adductor pollicis release,  thumb MP joint arthrodesis and extensor pollicis longus rerouting.
  • Fingers -  Z-plasties; flexor digitorum superficialis tenotomy.
Hand Therapy

See conservative treatment options.

Complications
  • Complications from anesthesia Including malignant hyperthermia in some types of arthrogryposis
  • Osseous hypoplasia
  • Infection
  • Humeral refracture after osteotomy
  • Incomplete correction after osteotomies
  • Incomplete release of joint contractures after joint capsulotomies
Outcomes
  • Better prognosis if corrective surgery is performed at an earlier age
  • Overall function will relate to level of family support, patient personality, education and early efforts to foster independence
  • With treatment 85% of the patient's with arthrogryposis are able to do activities of daily living and ambulate with or without assistance.4
Key Educational Points
  • Arthrogryposis is not a single diagnosis but rather a symptom complex with multiple underlying etiologies.
  • Initial therapy is always physical therapy and occupational therapy  with range of motion exercises, stretching and splinting.  Ultimately reconstructive surgery is indicated in a majority of these patients.
  • Arthrogryposis is not a spastic condition.
  • Functionally patients with arthrogryposis are improved after humeral external rotational osteotomy and dorsal carpal closing wedge osteotomy.
References

New Articles

  1. Stevanovic M, Sharpe F. Functional free muscle transfer for upper extremity reconstruction. Plast Reconstr Surg 2014;134(2):257-274 PMID: 24732655
  2. Fletcher ND, Rathjen KE, Bush P, Ezaki M. Asymmetrical arthrogryposis of the upper extremity associated with congenital spine anomalies. J Pediatr Orthop 2010;30(8):936-41 PMID: 21102225
  3. Wall LB, Calhoun V, Roberts S, Goldfarb CA.  Distal humerus external rotation osteotomy for hand position in arthrogryposis. J Hand Surg Am 2017; 42(6):473. e1-e7. PMID: 28389082
  4. Ramirez RN, Richards CJ, Kozin SH, Zlotolow DA.  Combined elbow release and humeral rotational osteotomy in arthrogryposis. J Hand Surg Am 2017; 42(11):926. e1-e9. PMID: 28716382
  5. Van Heest AE, Rodriguez R.  Dorsal carpal wedge osteotomy in the arthrogrypotic wrist. J Hand Surg Am 2013; 38A:265-270. PMID: 23267756

Reviews

  1. Ty JM, James MA. Failure of differentiation: Part II (arthrogryposis, camptodactyly, clinodactyly, madelung deformity, trigger finger, and trigger thumb). Hand Clin 2009;25(2):195-213. PMID: 19380060
  2. Azouz EM, Oudjhane K. Disorders of the upper extremity in children. Magn Reson Imaging Clin N Am 1998;6(3):677-95. PMID: 9654591
  3. Ezaki,M. Treatment of the upper limb in the child with arthrogryposis. Hand Clin 2000; 16:703-711. PMID: 11117058
  4. Bamshad M, Van Heest AE, Pleasure D.  Arthrogryposis: A review and update.  J Bone Joint Surg Am 2009; 91 suppl 4:40-6. PMID: 19571066

Classics

  1. Gibson DA, Urs ND. Arthrogryposis multiplex congenita. J Bone Joint Surg Br 1970;52(3):483-93. PMID: 5455080
  2. Bennett JB, et al. Surgical management of arthrogryposis in the upper extremity. J Pediatr Orthop 1985;5(3):281-6. PMID: 3998127
  3. Hall JG.  Arthrogryposis multiplex congenital: etiology, genetics, classification, diagnostic approach and general aspects.  J Pediatr Orthop B 1997; 6:159-166. PMID: 9260643
  4. Van Heest A, Waters PM, Simmons BP.  Surgical treatment of arthrogryposis of the elbow.  J Hand Surg Am 1998; 23(6):1063-1070. PMID: 9848560
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