eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Arthrogryposis: Treatment & Medication

Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Contributor Information and Disclosures

Updated: Jul 28, 2009

Treatment

Medical Care

  • No completely successful approach to treat arthrogryposis has been found. Goals include lower-limb alignment and establishment of stability for ambulation and upper-limb function for self-care. Early gentle manipulation soon after birth improves passive and active range of motion. This is especially true in the case of the inherited distal arthrogryposes, in which prolonged immobilization associated with casting may be undesirable. Late manipulation is of little value.
  • Early vigorous physical therapy to stretch contractures is very important in improving joint motion and avoiding muscle atrophy. Patients with amyoplasia or distal arthrogryposis respond well to physical therapy with excellent functional outcome. However, physical therapy may actually be harmful in patients with diastrophic dysplasia, because it may lead to joint ankylosis. Recurrence of deformities following stretching is common, and surgery is often indicated.
  • Splinting combined with physical therapy appears preferable to continuous casting. Night splinting after surgical procedures is indicated to maintain increased range of motion.
  • Feeding assistance and intubation is needed in patients with severe trismus.
  • See Deterrence/Prevention for information on recurrence risk.

Surgical Care

The perioperative management of the arthrogrypotic patient can be difficult and is managed by an experienced anesthesia and medical team.24,25,6 The following issues are noted:

  • Difficult in venous access
  • Prone to develop intraoperative hyperthermia
  • Certain drugs influenced by decreased muscle mass
  • Postoperatively, increased difficulty with atelectasis and stridor with an increased risk of aspiration
  • Vertebral instability secondary to decreased muscle mass and high cervical hypoplasia

If surgery is contemplated, early (age 3-12 mo) one-stage (bone and tendon transfer) surgery should be performed. Fine-tuning procedures, such as opponensplasty, may improve function at a later stage.

Specific joint problems should be addressed with regard to treatment of other joints and the goals for the patient. Soft-tissue surgery should be performed early, with osteotomies performed when growth is completed. In soft-tissue release procedures, tenotomies should be accompanied by capsulotomies. Long-term bracing and assistive devices are usually needed.

  •  Feet
    • The most common deformity is a rigid talipes equinovarus deformity. The goal of treatment is a plantigrade, braceable foot.
    • Casting in the first 3 months and attempting to stretch the skin often fail to correct the deformity. The patient eventually needs an extensive medial and lateral release, followed by prolonged casting and bracing.
    • Recurrence is common as the child grows, and the patient may need eventual treatment with bony procedures, such as lateral column shortenings (Lichtblau procedures) or talectomy.
    • In a skeletally mature deformed foot, triple arthrodesis often gives a satisfactory plantigrade foot. In an older child with no previous treatment, a combination of soft-tissue releases and bony procedures may be indicated.
  • Knees
    • The goal of treatment is an extended knee for ambulation. This is more easily accomplished in an extension or hyperextension deformity than in a flexion deformity.
    • Flexion knee deformities are more common than fixed knee deformities and are more resistant to treatment.
    • A mild contracture (<20°) does not interfere with functional ambulation and can be treated with passive stretching and splinting.
    • Moderate contractures (20-60°) need soft-tissue releases, including posterior capsulotomy of the knee joint, followed by long-term bracing.
    • Severe contractures (>60°) may need femoral shortening, in addition to soft-tissue releases, to decrease tension on neurovascular structures behind the knee. In an older child with severe flexion deformity, a knee disarticulation may be indicated.
    • Extension deformities often present as recurvatum or even anterior dislocation, but they respond better to physical therapy than flexion deformities. Initial treatment for recurvatum is passive stretching and splinting. If unsuccessful, quadricepsplasty should be performed when the patient is younger than 6 months. The deformity should be corrected before treating a dislocated hip to facilitate hip reduction.
  • Hips
    • Hip surgery should follow foot and knee surgery, especially in the presence of knee extension deformities. Hip surgery should be performed when the patient is younger than 1 year to facilitate ambulation. In some patients with bilateral hip dislocations and extremely mobile hips, open reduction may be attempted.
    • Hip flexion contractures are more difficult to treat than dislocations. Mild hip flexion contracture is acceptable for ambulation. A flexion contracture greater than 35° requires soft-tissue releases.
    • A bilateral hip dislocation greater than 35° with flexion contracture should be treated with stretching and soft-tissue releases but not with reduction.
    • Unilateral hip dislocation requires reduction to avoid pelvic obliquity and scoliosis.
  • Upper extremities
    • Treatment involves development of self-help skills (eg, feeding and toileting) and mobility skills (eg, pushing out of chair and using crutches). In evaluating the upper extremities, overall function of the entire extremity should be considered rather than function of the individual joints.
    • Upper-extremity surgery should not be considered until the patient is older than 5-6 years. Shoulder function is usually satisfactory without a rotational osteotomy unless the shoulder is severely internally rotated.
  • Elbows
    • The goal of treatment is an elbow with passive or active flexion capability (feeding arm) and extension capability (toilet arm). Extension is corrected with either capsulotomy (ie, to allow passive flexion) or capsulotomy plus provision of a motor power, provided by a Steindler flexorplasty, a triceps transfer, or a pectoralis major transfer.
    • Because the elbow is crucial to hand function, the elbow must be mobile before a wrist deformity is corrected.
  • Wrists
    • The major wrist deformity is flexion with ulnar deviation. Treatment should begin with stretching and splinting.
    • A severe deformity requires proximal row carpectomy with or without fusion.
    • A trapezoid wedge excision improves dorsiflexion.
  • Fingers
    • Minimal to moderate flexion deformities require passive stretching and splinting.
    • More severe deformities require soft-tissue releases and often require proximal interphalangeal joint fusions.
    • Thumb-in-palm deformities need to be corrected to provide opposition-improved grasp.
  • Spine
    • The spine is affected in about one third of patients. Scoliosis begins early and progresses to become a long, severe, rigid, C-shaped curve. This curve responds poorly to orthoses because it is progressive.
    • Curves greater than 35° should be treated with spinal fusion and instrumentation.

Consultations

  • Clinical geneticist
  • Orthopedic surgeon
  • Plastic surgeon
  • Radiologist
  • Neurologist
  • Developmental pediatrician
  • Pathologist
  • Psychologist
  • Physical and occupational therapists
  • Social worker
  • Educator
  • Orthotist
  • Rehabilitation engineer

Diet

  • No special diet is required.

Activity

  • Physical activity may be limited because of existing orthopedic problems. As a group, patients appear to cope well socially, participating in social activities that correspond to their needs.
  • Walking is more restricted in patients with flexion contractures of the lower extremities than in those with extension contractures. Flexion contractures of the hips severely impair walking ability.
  • Contracture of the elbow can cause a significant degree of disability in hand function.
  • The use of crutches can be impossible for patients with upper extremity involvement associated with severe spinal deformity.
  • Patients with more severe joint involvement depend on more help from other people than those with less severe joint involvement.

Medication

  • Drug therapy is not currently a component in the standard of care for this condition.
  • See Treatment.

More on Arthrogryposis

Overview: Arthrogryposis
Differential Diagnoses & Workup: Arthrogryposis
Treatment & Medication: Arthrogryposis
Follow-up: Arthrogryposis
Multimedia: Arthrogryposis
References
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Further Reading

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Keywords

arthrogryposis multiplex congenita, AMC, multiple congenital contractures, multiple congenital joint contractures, fetal akinesia, decreased fetal movements, development of extra connective tissue, fixation of the joint, joint fixation, scoliosis, limb dysfunction, joint deformity, limb malformations, amyoplasia, distal arthrogryposes, Gordon syndrome, Pierre-Robin syndrome, Möbius syndrome, trisomy 18, Zellweger syndrome, Meckel-Gruber syndrome, anencephaly, Werdnig-Hoffmann disease, central core disease, nemaline myopathy, myoneural junction abnormality, congenital myasthenia gravis, diastrophic dysplasia, X-linked arthrogryposis, hyperextensibility, dislocated joints, myotonic dystrophy, myasthenia gravis, multiple sclerosis, rubella, rubeola, coxsackievirus, enterovirus, Akabane, maternal hyperthermia, oligohydramnios, chronic amniotic fluid leakage, lethal multiple pterygium syndrome, treatment, diagnosis

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Contributor Information and Disclosures

Author

Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Human Genetics, and Teratology Society
Disclosure: Nothing to disclose.

Medical Editor

James Bowman, MD, Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago
James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists
Disclosure: Nothing to disclose.

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Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Hagop Youssoufian, MD, MSc, Vice President of Clinical Research, ImClone Systems Incorporated
Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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