Arthrogryposis Multiplex Congenita: Difference between revisions

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Arthrogryposis Multiplex Congenita (AMC) "describes joint contractures in two or more areas of the body."<ref name=":0">Society for Maternal-Fetal Medicine; Rac MWF, McKinney J, Gandhi M. [https://www.ajog.org/article/S0002-9378(19)31128-7/fulltext Arthrogryposis]. Am J Obstet Gynecol. 2019 Dec;221(6):B7-B9. </ref>  AMC is not a specific diagnosis. Contractures can be caused by a range of medical conditions; there are over 400 conditions associated with AMC.<ref name=":0" /> If a congenital contracture forms in just one area, it is not AMC. Instead it is referred to as an isolated congenital contracture (e.g. clubfoot).<ref name="Hall" />   
Arthrogryposis Multiplex Congenita (AMC) "describes joint contractures in two or more areas of the body."<ref name=":0">Society for Maternal-Fetal Medicine; Rac MWF, McKinney J, Gandhi M. [https://www.ajog.org/article/S0002-9378(19)31128-7/fulltext Arthrogryposis]. Am J Obstet Gynecol. 2019 Dec;221(6):B7-B9. </ref>  AMC is not a specific diagnosis. Contractures can be caused by a range of medical conditions; there are over 400 conditions associated with AMC.<ref name=":0" /> If a congenital contracture forms in just one area, it is not AMC. Instead it is referred to as an isolated congenital contracture (e.g. clubfoot).<ref name="Hall" />   


AMC is a non-progressive condition of unknown cause, but it is associated with a lack of foetal movement - i.e the joint is initially forming as expected, but a lack of movement in utero causes extra connective tissue to form around the joint (fibrous ankylosis).<ref name="Staheli" /><ref name="AMC Support">AMCSUPPORT.ORG | Arthrogryposis Multiplex Congenita Support, Inc. Available from: https://www.amcsupport.org/about-us<nowiki/>:accessed 2 April 2016)</ref>  AMC is diagnosed at birth, and the primary impairments of children diagnosed with AMC are:<ref name="Campbell">Campbell SK, Palisano RJ, Orlin MN. Physical therapy for children. 4th ed. St. Louis, MO: Elsevier/Saunders; 2012. p313–32.</ref>  
AMC is a non-progressive condition of unknown cause, but it is associated with a lack of foetal movement - i.e the joint is initially forming as expected, but a lack of movement in utero causes extra connective tissue to form around the joint (fibrous ankylosis).<ref name="Staheli">Staheli LT. Arthrogryposis: a text atlas. New York: Cambridge University Press; 1998 Available from: http://www.global-help.org/publications/books/help_arthrogryposis.pdf (accessed 10 April 2016)</ref><ref name="AMC Support">AMCSUPPORT.ORG | Arthrogryposis Multiplex Congenita Support, Inc. Available from: https://www.amcsupport.org/about-us<nowiki/>:accessed 2 April 2016)</ref>  AMC is diagnosed at birth, and the primary impairments of children diagnosed with AMC are:<ref name="Campbell">Campbell SK, Palisano RJ, Orlin MN. Physical therapy for children. 4th ed. St. Louis, MO: Elsevier/Saunders; 2012. p313–32.</ref>  
* decreased joint movement in more than one joint
* decreased joint movement in more than one joint
* decreased muscle strength and bulk
* decreased muscle strength and bulk
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== Prevalence  ==
== Prevalence  ==
AMC occurs in around 1 in 3,000 live births.<ref name=":0" /> It affects males and females almost equally and it occurs in Asian, African and European populations.<ref name="Hall">Hall JG. Arthrogryposis Multiplex Congenita - NORD (National Organization for Rare Disorders)Available from: http://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/ ( accessed 10 April 2016)</ref>
AMC occurs in around 1 in 3,000 live births.<ref name=":0" /> It affects males and females almost equally and it occurs in Asian, African and European populations.<ref name="Hall">Hall JG. Arthrogryposis Multiplex Congenita - NORD (National Organization for Rare Disorders)Available from: http://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/ ( accessed 10 April 2016)</ref>
There are a number of conditions associated with specific congenital contractures, such as clubfoot. The incidence of these conditions are higher as at least 1 in every 200 babies are born with a congenital contracture or stiff joint.<ref name="Staheli" />
The incidence of congenital contractures in infants at birth are:<ref name="Staheli">Staheli LT. Arthrogryposis: a text atlas. New York: Cambridge University Press; 1998 Available from: http://www.global-help.org/publications/books/help_arthrogryposis.pdf (accessed 10 April 2016)</ref>
*[[Clubfoot Content Development Project|Clubfoot]]: 1/500
*Congenital dislocated hips: 1/200 - 1/500
*All congenital contractures: 1/100 - 1/250
*Multiple contractures: 1/3000


== Characteristics/Clinical Presentation  ==
== Characteristics/Clinical Presentation  ==
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* Other types of arthrogryposis
* Other types of arthrogryposis


The prognosis of AMC depends on the cause of this condition, as well as the extent of contractures and other changes associated with the condition.<ref name=":0" />


It is estimated that around one-third of infants born with AMC will be still born or die before their first birthday.<ref name=":1" /> In order to ensure the highest level of care for these infants, continual monitoring of their respiratory functioning is necessary.<ref name="AMC Support" />
The prognosis of AMC depends on the cause of this condition, as well as the extent of contractures and other changes associated with the condition.<ref name=":0" /> It is estimated that around one-third of infants born with AMC will be still born or die before their first birthday.<ref name=":1" />
=== Clinical signs and symptoms of AMC include:<ref name="Hall" />===
=== Clinical signs and symptoms of AMC include:<ref name="Hall" />===
*Decreased or absent movement around small and large joints due to contractures  
*Decreased or absent movement around small and large joints due to contractures  
*Muscles of affected limbs are underdeveloped with decreased strength and bulk  
*Muscles of affected limbs are underdeveloped with decreased strength and bulk  
*Long bones of the arms and legs are fragile  
*Long bones of the arms and legs are fragile  
*Abnormally slender build  
*Slender build
*Cleft palate  
*Cleft palate  
*Cognition may or may not be affected  
*Cognition may or may not be affected  
*Around one-third of babies affected have structural or functional abnormalities of the central nervous system (CNS)
*Around one-third of babies affected have structural or functional abnormalities of the central nervous system (CNS)
*Usually painless to the child<ref name="Perajit" />
*Usually painless to the child<ref name="Perajit">Perajit E, Kamolporn K, Ekasame V. Walking ability in patients with arthrogryposis multiplex congenita. Indian Journal Of Orthopaedics. 2014; 48(4): 421-425. </ref>
=== Most Typical Presentations of AMC ===
=== Most Typical Presentations of AMC ===
# Flexed and dislocated hips, extended knees, clubfeet, internally rotated shoulders, flexed elbows, and flexed and ulnarly deviated wrists
# Flexed and dislocated hips, extended knees, clubfeet, internally rotated shoulders, flexed elbows, and flexed and ulnarly deviated wrists
# Abducted and externally rotated hips, flexed knees, clubfeet, internally rotated shoulder, extended elbows, and flexed and ulnarly deviated wrists<ref name="Campbell" />
# Abducted and externally rotated hips, flexed knees, clubfeet, internally rotated shoulder, extended elbows, and flexed and ulnarly deviated wrists<ref name="Campbell" />
=== Systemic Involvement ===
AMC may be associated with the following:
*neurologic conditions including epilepsy, defects in neural migration, cerebral hypoplasia, holoprosencephaly, pyramidal tract degeneration, and olivopontocerebellar degeneration<ref name="Kalampokas">Kalampokas E, Kalampokas T, Sofoudis C, Deligeoroglou E, Botsis D. Diagnosing Arthrogryposis Multiplex Congenita: A Review. ISRN Obstetrics &amp; Gynecology. 2012;264918.</ref>
*congenital heart defect<ref name="Kalampokas" />
*respiratory problems<ref name="Kalampokas" />
=== Other possible effects of AMC include:<ref name="AMC Support" />===
=== Other possible effects of AMC include:<ref name="AMC Support" />===


*Undescended testes  
*Undescended testes  
*Eating difficulties due to difficulty swallowing and jaw opening weakness
*Eating difficulties due to difficulty swallowing and jaw opening weakness
=== Systemic Involvement ===
 
AMC may be associated with the following:
*neurologic conditions including epilepsy, defects in neural migration, cerebral hypoplasia, holoprosencephaly, pyramidal tract degeneration, and olivopontocerebellar degeneration<ref name="Kalampokas">Kalampokas E, Kalampokas T, Sofoudis C, Deligeoroglou E, Botsis D. Diagnosing Arthrogryposis Multiplex Congenita: A Review. ISRN Obstetrics &amp; Gynecology. 2012;264918.</ref>
*congenital heart defect<ref name="Kalampokas" />
*respiratory problems<ref name="Kalampokas" /><br>
== Aetiology ==
== Aetiology ==
[[Image:AMC Cartoon 2.png|right|2x2px]]The aetiology of AMC is unknown, but it is believed that this condition begins in the first trimester of pregnancy.<ref name="Campbell" /> There are several theories on the cause of AMC, including:  
[[Image:AMC Cartoon 2.png|right|2x2px]]The aetiology of AMC is unknown, but it is believed that this condition begins in the first trimester of pregnancy.<ref name="Campbell" /> There are several theories on the cause of AMC, including:  


*Decreased movement in utero allowing excessive connective tissue to form around the joints. This excessive connective tissue can result in the joint becoming fixed and/or limiting the movement of the joint. Decreased foetal movement can be caused by foetal crowding, secondary to maternal disorders (viral infections, drug use, trauma, or other maternal illness), and low levels of amniotic fluid around the foetus.<ref name="Hall" />
*Decreased movement in utero allowing excessive connective tissue to form around the joints. This can lead to the joint becoming fixed and/or limit joint movement. Decreased foetal movement can have various causes, including foetal crowding (e.g. in multiple births), maternal disorders (viral infections, drug use, trauma, or other maternal illness), and low levels of amniotic fluid around the foetus.<ref name="Hall" />
*Genetic and environmental factors<ref name="Kalampokas" />
*Genetic and environmental factors<ref name="Kalampokas" />
[[Image:AMC Cartoon 2.png|frame]]
[[Image:AMC Cartoon 2.png|frame]]
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* Connective tissue disorders<ref name="Hall" />
* Connective tissue disorders<ref name="Hall" />


*Less commonly, can be associated with specific muscle conditions, including muscular dystrophy, some mitochondrial disorders, and congenital myopathies<ref name="Hall" /><ref name="Kalampokas" />
*Less commonly, can be associated with specific muscle conditions, including muscular dystrophy, some mitochondrial disorders, and congenital myopathies<ref name="Hall" />
== Differential Diagnosis ==
== Differential Diagnosis ==


Because AMC is an umbrella term with more than 400 conditions associated with contractures, the differential diagnosis is extensive. he differential diagnosis of arthrogryposis is extensive. Conditions that could be considered, include:<ref name="Gucev">Gucev ZS, Pop-Jordanova N, Dumalovska G, Stomnaroska O, Zafirovski G, Tasic VB.  Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report. Cases journal. 2009; 2:9403. doi: 10.1186/1757-1626-2-9403.http://casesjournal.biomedcentral.com/articles/10.1186/1757-1626-2-9403</ref>
Because AMC is an umbrella term with more than 400 conditions associated with contractures, the differential diagnosis covers many conditions and symdromes. Conditions that might be considered, include:<ref name="Gucev">Gucev ZS, Pop-Jordanova N, Dumalovska G, Stomnaroska O, Zafirovski G, Tasic VB.  Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report. Cases journal. 2009; 2:9403. doi: 10.1186/1757-1626-2-9403.http://casesjournal.biomedcentral.com/articles/10.1186/1757-1626-2-9403</ref>
*Bony fusion (symphalangism, coalition, synostosis)
*Bony fusion (symphalangism, coalition, synostosis)
*[https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-20 Contractural arachnodactyly (Beals syndrome)]  
*[https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-20 Contractural arachnodactyly (Beals syndrome)]  
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== Diagnostic Tests ==
== Diagnostic Tests ==
The diagnosis of AMC relies significantly on the clinical examination and evaluation of characteristic symptoms and a detailed patient history. However, there are other tests that can be done for a more definitive diagnosis including:   
The diagnosis of AMC relies heavily on the clinical examination and evaluation of characteristic symptoms and a detailed patient history. However, other tests that may be done include:   


*[[Ultrasound Scans|Ultrasound]]- used to diagnose lack of foetal mobility and abnormal position in the womb<ref name="Kalampokas" />
*[[Ultrasound Scans|Ultrasound]]- used to diagnose lack of foetal mobility and abnormal position in the womb<ref name="Kalampokas" />
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*Exome studies<ref name="Hall" />
*Exome studies<ref name="Hall" />


== Medical Management (current best evidence)  ==
== Rehabilitation Management ==
Surgical management of AMC is not the primary source for treatment. After therapeutic resources (physical therapy, orthotist, OT, SLP, geneticist, etc,) have been utilized, some joint contractures may still persist beyond the level of management these services can offer. This is usually when a surgical option is discussed in order to provide that individual with a better quality of life.  
There is no specific cure for AMC, but it can be managed with surgical and conservative treatment approaches.<ref>Johns Hopkins Medicine. Arthrogryposis. Available from https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis (last accessed 24 April 2023).</ref>


Orthopedic surgery can be done for the joint contractures that are resistant to therapy, stretching and casting. Surgical intervention may include osteotomies (bone cuts) and tendon/ muscle lengthening.<ref name="AMC Support" /> Interestingly, a unique trait to this disease, which can add complexity to treatment is that none of the musculoskeletal tissues that are surrounding the contracted joint are normal structurally.<ref name="Graydon">Graydon AJ, Eastwood DM. Orthopaedic Management of Arthrogryposis Multiplex Congenita. Springer Link. European Surgical Orthopaedics and Traumatology; 2014 Available from: http://link.springer.com/referenceworkentry/10.1007/978-3-642-34746-7_172 (accessed 10 April 2016)</ref> If the child does have muscular limitation, tendon transfers have also been performed to improve the length tension relationship and the mechanics of the specific muscle.<ref name="Hall" /> If a tendon is causing a joint to be held in an abnormal position, a tenotomy can be performed to release the joint from the pull of the tendon. These procedures are usually assisted by capsulotomies as well.<ref name="Chen">Chen H.  Arthrogryposis Treatment &amp; Management: Medical Care, Surgical Care, Consultations. Medscape; 2015. Available from: http://emedicine.medscape.com/article/941917-treatment#d6 (accessed 10 April 2016)</ref> One example of soft tissue reconstruction in a child with AMC would be using the pectoralis major muscle as an elbow flexor instead of the contracted biceps muscle to improve function of the UE.<ref name="Chen" />  
Rehabilitation (occupational therapy, physiotherapy etc) are first-line treatments for AMC. The goal of rehabilitation is to maintain and maximise function, improve joint range of motion and prevent additional muscle atrophy. Physiotherapy treatments can include:
*Gentle joint manipulation<ref name="Hall" />
*Use of removable splints for the knees and feet that enable movement<ref name="Hall" />
*Application of appropriate orthotics to assist mobility and enhance indendence<ref name="Bartonek">Bartonek Å. The use of orthoses and gait analysis in children with AMC. Journal Of Children's Orthopaedics. 2015; 9(6): 437-447. </ref>
*Serial casting of contracted joints<ref name="Perajit" />
*Muscle strengthening, specifically the hip extensors, quadriceps, and shoulder depressors<ref name="Perajit" />
*Stretching of joint and muscle contractures to promote active movement and avoid immobilisation<ref name="Kimber">Kimber E. AMC: amyoplasia and distal arthrogryposis Springer Link. Journal of Children's Orthopaedics; 2015. Available from: http://link.springer.com/article/10.1007/s11832-015-0689-1 (accessed 10 April 2016)</ref>
*Encourage parents to initiate a stretching programme at home (3-5 times a day, 3-5 repetitions per set, holding each stretch 20-30 seconds)<ref name="Campbell" />
*[[Hydrotherapy|Aquatic therapy]] <ref name="AMC Support" />
*[[Hippotherapy]]<ref name="AMC Support" />
*Prescribing assistive devices (e.g. gait trainer, a walker, crutches, etc)<ref name="AMC Support" />
*Dynamic trunk strengthening
*Ambulation either independently or with an [[Assistive Devices|assistive device]]
*Specifically for infants, physiotherapy might include: gross motor skills (rolling, sitting, crawling, standing, walking, etc)<ref name="AMC Support" />, foot abduction braces, thermoplastic serial splinting, position activities such as stretching the hip flexors and prone positioning, and standing in a standing frame/stander.<ref name="Campbell" />


Due to the variability of where the contractures present in each child, other procedures can be carried out according to that body location such as talectomy for equinovarus in the foot.<ref name="Chotigavanichaya">Chotigavanichaya C, Ariyawatkul T, Eamsobhana P, Kaewpornsawan K. Results of Primary Talectomy for Clubfoot in Infants and Toddlers with Arthrogryposis Multiplex Congenita. Journal Of The Medical Association Of Thailand = Chotmaihet Thangphaet. 2015; 98 Suppl 8S38-S41. </ref> Other research has been conducted on using a femoral-sciatic nerve block through either neurostimulation or ultrasound for distal arthrogryposis cases.<ref name="Ponde">Ponde V, Desai A, Shah D, Bosenberg A. Comparison of success rate of ultrasound-guided sciatic and femoral nerve block and neurostimulation in children with arthrogryposis multiplex congenita: a randomized clinical trial. Pediatric Anesthesia. 2013; 23(1): 74-78. </ref>
== Surgical and Medical Management ==
Surgical options might be discussed if joint contractures persist after other rehabilitation approaches (therapy, stretching, casting) have been tried. Surgical options vary depending on the location of the contractions.  


If surgery is being discussed as an option for the child, it is important to consider factors that may affect the outcomes of that procedure. Soft tissue surgery, such as bone and tendon transfers, should be done early in life (ages 3-12 months). Other procedures such as opponensplasty or osteotomies should be performed later in life when the growth of that joint is near completed. With all surgeries, casting and bracing are suggested following these procedures for the best outcomes for the patients. <ref name="Chen" /><br>  
Surgical interventions may include osteotomies and tendon/ muscle lengthening.<ref name="AMC Support" /> In AMC, the tissues surrounding the contracted joint are also affected, which can add complexity to treatment.<ref name="Graydon">Graydon AJ, Eastwood DM. Orthopaedic Management of Arthrogryposis Multiplex Congenita. Springer Link. European Surgical Orthopaedics and Traumatology; 2014 Available from: http://link.springer.com/referenceworkentry/10.1007/978-3-642-34746-7_172 (accessed 10 April 2016)</ref> If an individual with AMC does have muscular limitations, tendon transfers may be performed to improve the length tension relationship and the mechanics of the specific muscle.<ref name="Hall" /> If a tendon is causing a joint to be held in an abnormal position, a tenotomy can be performed to release the joint from the pull of the tendon. These procedures are usually assisted by capsulotomies as well.<ref name="Chen">Chen H.  Arthrogryposis Treatment &amp; Management: Medical Care, Surgical Care, Consultations. Medscape; 2015. Available from: http://emedicine.medscape.com/article/941917-treatment#d6 (accessed 10 April 2016)</ref>


{{#ev:youtube|bHjvMZWDvZY}}
If surgery is being discussed as an option for the child, the following factors are important consideration:


== Physical Therapy Management (current best evidence) ==
* Soft tissue surgery, such as bone and tendon transfers, should be done early in life (ages 3-12 months)
Physical therapy will be an important component of managing the effects of AMC in patients for the rest of their lives. One of the most important aspects of physical therapy is education, especially for the parents when the child is diagnosed with AMC. The main goal of physical therapy is to maintain maximum function and independence for the patient with AMC, while other goals can include improving joint motion and avoiding further muscle atrophy.
* Other procedures, such as opponensplasty or osteotomies, should be performed later in life when the joint is almost finished growing
* Casting and bracing are beneficial post-operatively<ref name="Chen" /><br>


Physical therapy management for patients with AMC can include:  
{{#ev:youtube|bHjvMZWDvZY}}
 
*Gentle joint manipulation<ref name="Hall" />
*Management of removable splints for the knees and feet to assist in permitting regular muscle movement <ref name="Hall" />
*Management of orthotics that can assist in gait and independence for children with AMC.<ref name="Bartonek">Bartonek Å. The use of orthoses and gait analysis in children with AMC. Journal Of Children's Orthopaedics. 2015; 9(6): 437-447. </ref>
*Serial casting of contracted joints<ref name="Perajit">Perajit E, Kamolporn K, Ekasame V. Walking ability in patients with arthrogryposis multiplex congenita. Indian Journal Of Orthopaedics. 2014; 48(4): 421-425. </ref>
*Strengthening the patient’s muscles, specifically the hip extensors, quadriceps, and shoulder depressors.<ref name="Perajit" />
*Stretching of joint and muscle contractures assists in promoting active muscle use to avoid immobilization.<ref name="Kimber">Kimber E. AMC: amyoplasia and distal arthrogryposis Springer Link. Journal of Children's Orthopaedics; 2015. Available from: http://link.springer.com/article/10.1007/s11832-015-0689-1 (accessed 10 April 2016)</ref>
*Assist parents in initiating a stretching program for the family to do at home. It is recommended that stretching be done 3-5 times a day with 3-5 repetitions per set, with each stretch being held 20-30 seconds <ref name="Campbell" />
*[[Hydrotherapy|Aquatic therapy]] <ref name="AMC Support" />
*[[Hippotherapy]]<ref name="AMC Support" />
*Teaching a patient how to use an assistive device such as a gait trainer, a walker, crutches, orthotics, etc.<ref name="AMC Support" />
*Dynamic strengthening of the trunk
*Ambulation either independently or with an [[Assistive Devices|assistive device]]
*Specifically in infants physical therapy can include: gross motor skills (rolling, sitting, crawling, standing, walking, etc)<ref name="AMC Support" />, foot abduction braces, thermoplastic serial splinting, position activities such as stretching the hip flexors and prone positioning, and standing in a standing frame/stander.<ref name="Campbell" />
 
== Resources  ==
*https://www.amcsupport.org/faqsaboutamc.html
== References  ==
== References  ==


Revision as of 01:37, 24 April 2023

Original Editors - Casey Sisk and Shelby White

Top Contributors - Casey Sisk, Jess Bell, Kim Jackson, Robin Tacchetti, Uchechukwu Chukwuemeka, Evan Thomas, Shelby White, Mande Jooste, 127.0.0.1, WikiSysop, Rucha Gadgil, Nupur Smit Shah, Elaine Lonnemann, Naomi O'Reilly, George Prudden, Priyanka Chugh and Meaghan Rieke

Introduction[edit | edit source]

Arthrogryposis Multiplex Congenita (AMC) "describes joint contractures in two or more areas of the body."[1] AMC is not a specific diagnosis. Contractures can be caused by a range of medical conditions; there are over 400 conditions associated with AMC.[1] If a congenital contracture forms in just one area, it is not AMC. Instead it is referred to as an isolated congenital contracture (e.g. clubfoot).[2]

AMC is a non-progressive condition of unknown cause, but it is associated with a lack of foetal movement - i.e the joint is initially forming as expected, but a lack of movement in utero causes extra connective tissue to form around the joint (fibrous ankylosis).[3][4] AMC is diagnosed at birth, and the primary impairments of children diagnosed with AMC are:[5]

  • decreased joint movement in more than one joint
  • decreased muscle strength and bulk
AMC baby.jpg

Prevalence[edit | edit source]

AMC occurs in around 1 in 3,000 live births.[1] It affects males and females almost equally and it occurs in Asian, African and European populations.[2]

Characteristics/Clinical Presentation[edit | edit source]

The signs and symptoms of AMC vary considerably from person to person.[2]As there are many conditions and syndromes that come under the umbrella of AMC, it can be helpful to use the following categories:[6]

  • Amyoplasia
  • Distal
  • Other types of arthrogryposis


The prognosis of AMC depends on the cause of this condition, as well as the extent of contractures and other changes associated with the condition.[1] It is estimated that around one-third of infants born with AMC will be still born or die before their first birthday.[6]

Clinical signs and symptoms of AMC include:[2][edit | edit source]

  • 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
  • Slender build
  • Cleft palate
  • Cognition may or may not be affected
  • Around one-third of babies affected have structural or functional abnormalities of the central nervous system (CNS)
  • Usually painless to the child[7]

Most Typical Presentations of AMC[edit | edit source]

  1. Flexed and dislocated hips, extended knees, clubfeet, internally rotated shoulders, flexed elbows, and flexed and ulnarly deviated wrists
  2. Abducted and externally rotated hips, flexed knees, clubfeet, internally rotated shoulder, extended elbows, and flexed and ulnarly deviated wrists[5]

Systemic Involvement[edit | edit source]

AMC may be associated with the following:

  • neurologic conditions including epilepsy, defects in neural migration, cerebral hypoplasia, holoprosencephaly, pyramidal tract degeneration, and olivopontocerebellar degeneration[8]
  • congenital heart defect[8]
  • respiratory problems[8]

Other possible effects of AMC include:[4][edit | edit source]

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

Aetiology[edit | edit source]

AMC Cartoon 2.png

The aetiology of AMC is unknown, but it is believed that this condition begins in the first trimester of pregnancy.[5] There are several theories on the cause of AMC, including:

  • Decreased movement in utero allowing excessive connective tissue to form around the joints. This can lead to the joint becoming fixed and/or limit joint movement. Decreased foetal movement can have various causes, including foetal crowding (e.g. in multiple births), maternal disorders (viral infections, drug use, trauma, or other maternal illness), and low levels of amniotic fluid around the foetus.[2]
  • Genetic and environmental factors[8]
AMC Cartoon 2.png
  • Chromosomal disorders[2]
  • Connective tissue disorders[2]
  • Less commonly, can be associated with specific muscle conditions, including muscular dystrophy, some mitochondrial disorders, and congenital myopathies[2]

Differential Diagnosis[edit | edit source]

Because AMC is an umbrella term with more than 400 conditions associated with contractures, the differential diagnosis covers many conditions and symdromes. Conditions that might be considered, include:[9]

Diagnostic Tests[edit | edit source]

The diagnosis of AMC relies heavily on the clinical examination and evaluation of characteristic symptoms and a detailed patient history. However, other tests that may be done include:

  • Ultrasound- used to diagnose lack of foetal mobility and abnormal position in the womb[8]
  • Nerve conduction, electromyography and muscle biopsy - to diagnose myopathic or neuropathic disorder[2]
  • Imaging studies of the central nervous system (CNS)[2]
  • Comparative genomic hybridization (CGH) array[2] - used to identify segmental DNA copy number changes[10]
  • Microarray[2]
  • Exome studies[2]

Rehabilitation Management[edit | edit source]

There is no specific cure for AMC, but it can be managed with surgical and conservative treatment approaches.[11]

Rehabilitation (occupational therapy, physiotherapy etc) are first-line treatments for AMC. The goal of rehabilitation is to maintain and maximise function, improve joint range of motion and prevent additional muscle atrophy. Physiotherapy treatments can include:

  • Gentle joint manipulation[2]
  • Use of removable splints for the knees and feet that enable movement[2]
  • Application of appropriate orthotics to assist mobility and enhance indendence[12]
  • Serial casting of contracted joints[7]
  • Muscle strengthening, specifically the hip extensors, quadriceps, and shoulder depressors[7]
  • Stretching of joint and muscle contractures to promote active movement and avoid immobilisation[13]
  • Encourage parents to initiate a stretching programme at home (3-5 times a day, 3-5 repetitions per set, holding each stretch 20-30 seconds)[5]
  • Aquatic therapy [4]
  • Hippotherapy[4]
  • Prescribing assistive devices (e.g. gait trainer, a walker, crutches, etc)[4]
  • Dynamic trunk strengthening
  • Ambulation either independently or with an assistive device
  • Specifically for infants, physiotherapy might include: gross motor skills (rolling, sitting, crawling, standing, walking, etc)[4], foot abduction braces, thermoplastic serial splinting, position activities such as stretching the hip flexors and prone positioning, and standing in a standing frame/stander.[5]

Surgical and Medical Management[edit | edit source]

Surgical options might be discussed if joint contractures persist after other rehabilitation approaches (therapy, stretching, casting) have been tried. Surgical options vary depending on the location of the contractions.

Surgical interventions may include osteotomies and tendon/ muscle lengthening.[4] In AMC, the tissues surrounding the contracted joint are also affected, which can add complexity to treatment.[14] If an individual with AMC does have muscular limitations, tendon transfers may be performed to improve the length tension relationship and the mechanics of the specific muscle.[2] If a tendon is causing a joint to be held in an abnormal position, a tenotomy can be performed to release the joint from the pull of the tendon. These procedures are usually assisted by capsulotomies as well.[15]

If surgery is being discussed as an option for the child, the following factors are important consideration:

  • Soft tissue surgery, such as bone and tendon transfers, should be done early in life (ages 3-12 months)
  • Other procedures, such as opponensplasty or osteotomies, should be performed later in life when the joint is almost finished growing
  • Casting and bracing are beneficial post-operatively[15]

References[edit | edit source]

  1. ↑ 1.0 1.1 1.2 1.3 Society for Maternal-Fetal Medicine; Rac MWF, McKinney J, Gandhi M. Arthrogryposis. Am J Obstet Gynecol. 2019 Dec;221(6):B7-B9.
  2. ↑ 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 2.13 2.14 2.15 Hall JG. Arthrogryposis Multiplex Congenita - NORD (National Organization for Rare Disorders)Available from: http://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/ ( accessed 10 April 2016)
  3. ↑ Staheli LT. Arthrogryposis: a text atlas. New York: Cambridge University Press; 1998 Available from: http://www.global-help.org/publications/books/help_arthrogryposis.pdf (accessed 10 April 2016)
  4. ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 AMCSUPPORT.ORG | Arthrogryposis Multiplex Congenita Support, Inc. Available from: https://www.amcsupport.org/about-us:accessed 2 April 2016)
  5. ↑ 5.0 5.1 5.2 5.3 5.4 Campbell SK, Palisano RJ, Orlin MN. Physical therapy for children. 4th ed. St. Louis, MO: Elsevier/Saunders; 2012. p313–32.
  6. ↑ 6.0 6.1 AMSCI. What is Arthrogryposis Multiplex Congenita (AMC)?. Available from: https://www.amcsupport.org/about-arthrogryposis (last accessed 24 April 2023).
  7. ↑ 7.0 7.1 7.2 Perajit E, Kamolporn K, Ekasame V. Walking ability in patients with arthrogryposis multiplex congenita. Indian Journal Of Orthopaedics. 2014; 48(4): 421-425.
  8. ↑ 8.0 8.1 8.2 8.3 8.4 Kalampokas E, Kalampokas T, Sofoudis C, Deligeoroglou E, Botsis D. Diagnosing Arthrogryposis Multiplex Congenita: A Review. ISRN Obstetrics & Gynecology. 2012;264918.
  9. ↑ Gucev ZS, Pop-Jordanova N, Dumalovska G, Stomnaroska O, Zafirovski G, Tasic VB. Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report. Cases journal. 2009; 2:9403. doi: 10.1186/1757-1626-2-9403.http://casesjournal.biomedcentral.com/articles/10.1186/1757-1626-2-9403
  10. ↑ Lockwood WW, Chari R, Chi B, Lam WL. Recent advances in array comparative genomic hybridization technologies and their applications in human genetics. Eur J Hum Genet. 2006 Feb;14(2):139-48.
  11. ↑ Johns Hopkins Medicine. Arthrogryposis. Available from https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis (last accessed 24 April 2023).
  12. ↑ Bartonek Å. The use of orthoses and gait analysis in children with AMC. Journal Of Children's Orthopaedics. 2015; 9(6): 437-447.
  13. ↑ Kimber E. AMC: amyoplasia and distal arthrogryposis Springer Link. Journal of Children's Orthopaedics; 2015. Available from: http://link.springer.com/article/10.1007/s11832-015-0689-1 (accessed 10 April 2016)
  14. ↑ Graydon AJ, Eastwood DM. Orthopaedic Management of Arthrogryposis Multiplex Congenita. Springer Link. European Surgical Orthopaedics and Traumatology; 2014 Available from: http://link.springer.com/referenceworkentry/10.1007/978-3-642-34746-7_172 (accessed 10 April 2016)
  15. ↑ 15.0 15.1 Chen H. Arthrogryposis Treatment & Management: Medical Care, Surgical Care, Consultations. Medscape; 2015. Available from: http://emedicine.medscape.com/article/941917-treatment#d6 (accessed 10 April 2016)


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