Arthrogryposis Multiplex Congenita

 

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Original Editors - Casey Sisk and Shelby White from Bellarmine University's Pathophysiology of Complex Patient Problems project.

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Definition/Description[edit | edit source]

Arthrogryposis Multiplex Congenita (AMC) is a condition that causes a newborn to have stiff, crooked, and contracted joints at birth that causes

AMC baby.jpg

a loss of range of motion in more than one joint (hands, feet, hips, knees, elbows, shoulders, wrists, fingers, toes, the jaw and the spine). This lack of joint mobility is often accompanied by fibrous ankylosis, which is an overgrowth or proliferation of tissue in the joint.[1] AMC is a non-progressive condition that is diagnosed at birth. The primary impairments of children diagnosed with AMC are decreased joint movement and decreased muscle strength and bulk.[2]

Prevalence[edit | edit source]

AMC affects roughly 1 in every 3,000 individuals and is a congenital condition present at birth. The condition affects males and females equally throughout its population. The ethnic tendencies are common in the Asian, African and European populations. [3]

Out of those who have the disease, the incidence of specific deformities are as follows: [4]

  • Club foot - 1/500
  • Congenital dislocated hips - 1/200 - 1/500
  • All congenital contractures - 1/100 - 1/250
  • Multiple contractures - 1/3000

Characteristics/Clinical Presentation[edit | edit source]

Clinical signs and symptoms of AMC include:[3]

  • Decreased or absent movement around small and large joints due to contractures
  • Muscles of affected limbs are underdeveloped with decreased strength and bulk
  • Long bones of the arms and legs are fragile
  • Abnormally slender build
  • Cleft palate
  • Cognition may or may not be affected
  • ⅓ of babies affected have structural or functional abnormalities of the CNS
  • Usually painless to the child [5]


Most typical presentations of AMC: 

  • Upper Extremity: Shoulder internal rotation, elbow extension, pronation, wrist ulnar deviation, hand fisted [6]
  • Lower Extremity: Hip flexed, abducted, externally rotated, knee flexed, club foot [6]
  • 2 common variations of AMC include: (1) Flexed and dislocated hips, extended knees, clubfeet, internally rotated shoulders, flexed elbows, and flexed and ulnarly deviated wrists, and (2) abducted and externally rotated hips, flexed knees, clubfeet, internally rotated shoulder, extended elbows, and flexed and ulnarly deviated wrists [2]


There are four basic groups that babies born with AMC can be divided into: [1]

  1. Those with only limbs affected
  2. Those with limbs and trunk involvement
  3. Those with limb, head/face and organ involvement
  4. Those with limb involvement and severe central nervous dysfunction.


Other classification systems divide patients into three main groups:[7]

  1. primarily musculoskeletal involvement;
  2. musculoskeletal involvement plus other system anomalies
  3. musculoskeletal involvement plus CNS dysfunction and/or mental retardation 

Associated Co-morbidities[edit | edit source]

The vast majority of individuals affected by AMC enjoy a normal life, living just as long as other adults. However, due to some of the secondary complications such as neurological involvement, or contractures involving the spine or chest wall, there can be more life threatening consequences. In the most serious cases, about 50% of infants that have central nervous system dysfunction in addition to the contractures do not live through their first year. (1) In order to ensure the highest care for these infants, continual monitoring of their respiratory functioning is highly suggested. If they are to contract an upper respiratory infection, this could potentially have life-threatening effects because of the underdeveloped muscles and spinal deformities already present. (1)


Individuals with AMC may also be more susceptible to the respiratory depressant effects of anesthesia because of their muscle weakness, underdevelopment of the lungs or spinal deformities. It is important to inform the Anesthesiologist of your child's diagnosis, even if the surgery has nothing to do with AMC(1)


 
Other possible effects of AMC include:(1)

  • Undescended testes
  • Eating difficulties due to difficulty swallowing and jaw opening weakness.

Medications[edit | edit source]

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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]

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Etiology/Causes[edit | edit source]

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Systemic Involvement[edit | edit source]

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Medical Management (current best evidence)[edit | edit source]

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Physical Therapy Management (current best evidence)[edit | edit source]

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Differential Diagnosis[edit | edit source]

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Case Reports/ Case Studies[edit | edit source]

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Resources
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Recent Related Research (from Pubmed)[edit | edit source]

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References[edit | edit source]

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  1. ↑ 1.0 1.1 AMCSUPPORT.ORG | Arthrogryposis Multiplex Congenita Support, Inc. [Internet]. AMCSUPPORT.ORG | Arthrogryposis Multiplex Congenita Support, Inc. Arthrogryposis Multiplex Congenita Support; 2016 [cited 2016Apr2]. Retrieved from: https://www.amcsupport.org/faqsaboutamc.html
  2. ↑ 2.0 2.1 Campbell SK, Palisano RJ, Orlin MN. Arthrogryposis Multiplex Congentia. Physical therapy for children. 4th ed. St. Louis, MO: Elsevier/Saunders; 2012. p. 313–32.
  3. ↑ 3.0 3.1 Hall JG. Arthrogryposis Multiplex Congenita - NORD (National Organization for Rare Disorders) [Internet]. NORD (National Organization for Rare Disorders). National Organization for Rare Disorders; 2016 [cited 2016Apr10]. Retrieved from: http://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/
  4. ↑ Staheli LT. Arthrogryposis: a text atlas [Internet]. New York: Cambridge University Press; 1998 [cited 2016Apr10]. Retrieved from: http://www.global-help.org/publications/books/help_arthrogryposis.pdf
  5. ↑ Perajit E, Kamolporn K, Ekasame V. Walking ability in patients with arthrogryposis multiplex congenita. Indian Journal Of Orthopaedics [serial on the Internet]. (2014, July), [cited April 10, 2016]; 48(4): 421-425. Available from: Academic Search Complete.
  6. ↑ 6.0 6.1 Kalampokas E, Kalampokas T, Sofoudis C, Deligeoroglou E, Botsis D. Diagnosing Arthrogryposis Multiplex Congenita: A Review. ISRN Obstetrics & Gynecology [serial on the Internet]. (2012, Jan), [cited April 10, 2016]; 1-6. Available from: Academic Search Complete.
  7. ↑ Kimber E. AMC: amyoplasia and distal arthrogryposis [Internet]. Springer Link. Journal of Children's Orthopaedics; 2015 [cited 2016Apr10]. Retrieved from: http://link.springer.com/article/10.1007/s11832-015-0689-1

  

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