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'''Original Editors '''-  [[Casey Sisk|Shelby White]]  
'''Original Editors '''-  [[User: Casey Sisk| Casey Sisk]] and [[User:Shelby White|Shelby White]]


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== Definition/Description  ==
== Introduction ==
Arthrogryposis Multiplex Congenita (AMC) is a condition that causes a newborn to have stiff, crooked, and contracted joints at birth that causes 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. <ref name="AMC Support">AMCSUPPORT.ORG | Arthrogryposis Multiplex Congenita Support, Inc. Available from: https://www.amcsupport.org/faqsaboutamc.html ( accessed 2 April 2016)</ref>  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. <ref name="Campbell">Campbell SK, Palisano RJ, Orlin MN. Physical therapy for children. 4th ed. St. Louis, MO: Elsevier/Saunders; 2012. p313–32.</ref> [[Image:AMC baby.jpg|frame|right]]  
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.<ref name=":0" /> If a congenital contracture forms in just one area, it is not considered 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 that is diagnosed at birth.[[Image:AMC baby.jpg|frame|right]]  


== Prevalence  ==
== Prevalence  ==
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. <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>


Out of those who have the disease, the incidence of specific deformities are as follows: <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>  
== Characteristics/Clinical Presentation  ==
The signs and symptoms of AMC vary considerably from person to person.<ref name="Hall" /> There are over 400 conditions and syndromes that come under the umbrella of AMC, so the following categories have been proposed:<ref name=":1">AMSCI. What is Arthrogryposis Multiplex Congenita (AMC)?. Available from: https://www.amcsupport.org/about-arthrogryposis (last accessed 24 April 2023).</ref>
 
* Amyoplasia
* Distal
* Other types of arthrogryposis


*[[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  ==
The prognosis of AMC depends on the underlying cause of the condition in each individual, 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 are stillborn or die before their first birthday.<ref name=":1" />
Clinical signs and symptoms of AMC include:<ref name="Hall" />  


For more information on AMC, please see the [https://www.amcsupport.org/about-arthrogryposis AMSCI website].
=== 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  
*⅓ of babies affected have structural or functional abnormalities of the 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>
The most '''typical presentations of AMC''' are:<ref name=":2">Eskay K. Paediatric Conditions – Down Syndrome, Duchenne Muscular Dystrophy, Osteogenesis Imperfecta and Arthrogryposis Multiplex Congenita Course. Plus, 2023.</ref>
# 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
Depending on the type of AMC, individuals may also present with:
*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" />
== 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">Campbell SK, Palisano RJ, Orlin MN. Physical therapy for children. 4th ed. St. Louis, MO: Elsevier/Saunders; 2012. p313–32.</ref> There are several theories on the cause of AMC, including:


== Most Typical Presentations of AMC ==
*Decreased movement in utero allowing excessive connective tissue to form around the joints (i.e. fibrous ankylosis).<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><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> This can cause the joint to become fixed / 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" />
<div align="justify">
*Genetic and environmental factors<ref name="Kalampokas" />
*Upper Extremity: Shoulder internal rotation, elbow extension, pronation, wrist ulnar deviation, hand fisted <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. doi: 10.5402/2012/264918</ref>  
[[Image:AMC Cartoon 2.png|frame]]
*Lower Extremity: Hip flexed, abducted, externally rotated, knee flexed, club foot <ref name="Kalampokas" />  


==== 2 common variations of AMC include: ====
* Chromosomal disorders<ref name="Hall" />
<div align="justify">
* Connective tissue disorders<ref name="Hall" />
(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 <ref name="Campbell" />
*Less commonly, AMC can be associated with specific muscle conditions, including muscular dystrophy, some mitochondrial disorders, and congenital myopathies<ref name="Hall" />
==== There are four basic groups that babies born with AMC can be divided into: <ref name="AMC Support" /> ====
== Differential Diagnosis ==
<div align="justify">
#Those with only limbs affected
#Those with limbs and trunk involvement
#Those with limb, head/face and organ involvement
#Those with limb involvement and severe central nervous dysfunction.
 
==== Other classification systems divide patients into three main groups:<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> ====
<div align="justify">
#Primarily musculoskeletal involvement;
#Musculoskeletal involvement plus other system anomalies
#Musculoskeletal involvement plus CNS dysfunction and/or mental retardation
 
== Associated Co-morbidities  ==
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.<ref name="AMC Support" /> 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.<ref name="AMC Support" />  
 
<br>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. <ref name="AMC Support" />
==== Other possible effects of AMC include:<ref name="AMC Support" /> ====
<div align="justify">
*Undescended testes
*Eating difficulties due to difficulty swallowing and jaw opening weakness.
==== Medications  ====
<div align="justify">
Some patients have difficulty dealing with the effects of anesthesia during surgery. <ref name="AMC Support" /><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>
==== Systemic Involvement ====
<div align="justify">
*Neurologic abnormalities including epilepsy, defects in neural migration, cerebral hypoplasia, holoprosencephaly, pyramidal tract degeneration, and olivopontocerebellar degeneration. <ref name="Kalampokas" />
*Congenital heart defect <ref name="Kalampokas" />
*Respiratory problems<ref name="Kalampokas" /><br>
[[Image:AMC Cartoon 2.png|frame|left]]


== Etiology/Causes  ==
Because AMC is an umbrella term, the differential diagnosis covers many conditions and symdromes. Conditions that might be considered in a differential diagnosis, 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>
[[Image:AMC Cartoon 2.png|left|2x2px]]Although the definite cause and etiology of AMC is unknown, it is believed that the disease begins in the first trimester of pregnancy. <ref name="Campbell" />There are several theories as to the cause of AMC including:  
*bony fusion (symphalangism, coalition, synostosis)
*[https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-20 contractural arachnodactyly (Beals syndrome)]
*multiple pterygium syndrome
*lethal multiple pterygium syndrome
*osteochondrodysplasias
*distal arthrogryposis
*[https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome Freeman-Sheldon syndrome]


*It is thought to be related to decreased movement in utero which allows for 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 fetal movement can be caused by fetal crowding, secondary to maternal disorders (viral infections, drug use, trauma, or other maternal illness), and low levels of amniotic fluid around the fetus.<ref name="Hall" />
== Diagnostic Tests ==
*It can be related to multiple factors including genetic and environmental ones <ref name="Kalampokas" />
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:  
*Some cases occur as part of a rare, inherited genetic disorders (autosomal recessive, autosomal dominant or x-linked traits) <ref name="Kalampokas" />
*It can be a chromosomal disorder<ref name="Hall" />
*It can be a part of connective tissue disorders<ref name="Hall" />
*A common cause can be disorders arriving from the muscles including muscular dystrophy, mitochondrial disorders, myositis, and myopathies. <ref name="Kalampokas" />
== Differential Diagnosis ==
<div align="justify">
AMC requires differentiation from other arthrogryposis types, and approximately 150 other syndromes where stiff joints are a part of the phenotype.<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> Some examples of possible differential diagnoses are as follows: <ref name="Gucev" />
*Bony Fusion (symphalangism, coalition, synostosis)
*[https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-20 Contractural arachnodactyly (Beals syndrome)]
*Multiple pterygium syndrome
*Lethal multiple pterygium syndrome
*Osteochondrodysplasias
*Distal arthrogryposis
*[https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome Freeman-Sheldon Syndrome]


== Diagnostic Tests/Lab Tests/Lab Values  ==
*[[Ultrasound Scans|Ultrasound]]- used to diagnose lack of foetal mobility and abnormal position in the womb<ref name="Kalampokas" />
The diagnosis of AMC is most heavily founded based on the clinical examination and evaluation using characteristic symptoms and a detailed patient history. However, there are other tests that can be done to gather a more definite diagnosis including: 
*Nerve conduction, electromyography and muscle biopsy - to diagnose myopathic or neuropathic disorder<ref name="Hall" />
 
*An ultrasound- When there is a lack of fetal mobility and abnormal position in the womb, an ultrasound can help diagnose decreased fetal movement, a common cause of AMC <ref name="Kalampokas" />
*Nerve conduction, electromyography and muscle biopsy can help to determine the underlying cause by diagnosing myopathic or neuropathic disorders. <ref name="Hall" />  
*Imaging studies of the central nervous system (CNS)<ref name="Hall" />  
*Imaging studies of the central nervous system (CNS)<ref name="Hall" />  
*Comparative genomic hybridization (CGH) array<ref name="Hall" />  
*Comparative genomic hybridization (CGH) array<ref name="Hall" /> - used to identify segmental DNA copy number changes<ref>Lockwood WW, Chari R, Chi B, Lam WL. [https://www.nature.com/articles/5201531 Recent advances in array comparative genomic hybridization technologies and their applications in human genetics]. Eur J Hum Genet. 2006 Feb;14(2):139-48.</ref>
*DNA Microarray<ref name="Hall" />  
*Microarray<ref name="Hall" />
*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" /> 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 further muscle atrophy. Based on current evidence, physiotherapy treatments for AMC might include:
*Gentle joint manipulation<ref name="Hall" />
*Use of removable splints for the knees and feet that enable movement<ref name="Hall" />
*Night splints are often used from around 1.5 years until age 10, and braces for as long as needed<ref name=":2" />
*Application of appropriate orthotics to assist mobility and enhance independence<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" />
*Standing programmes
*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>
*Establishing a home stretching programme with family / caregivers (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]]
*Physiotherapy specifically for infants 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 Management ==
Surgical options might be considered if joint contractures persist after other rehabilitation approaches 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 relevant to consider:


== Physical Therapy Management (current best evidence) ==
* Soft tissue surgery, such as 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. Physical therapy management for patients with AMC can include:
* Other procedures, such as opponensplasty or osteotomies, should be performed later in life when the joint is almost finished growing
* Casting and bracing are often applied post-operatively<ref name="Chen" /><br>


*Gentle joint manipulation<ref name="Hall" />
{{#ev:youtube|bHjvMZWDvZY}}
*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" />
*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" />
 
== Case Reports/ Case Studies  ==
#Kakkad A. Arthrogryposis Multiplex Congenita (AMC): A case report. Indian Journal of Physical Therapy. Indian Journal of Physical Therapy; 2013 [cited 2016Apr11]. Retrieved from: http://indianjournalofphysicaltherapy.in/ojs/index.php/ijpt/article/viewfile/1/2
#Shahrokhi A, Gharib M, Kooshesh MR. A Case Report of Bilateral Upper Extremities Arthrogryposis. Iranian Rehabilitation Journal; 2011 [cited 2016Apr11]. Retrieved from: http://irj.uswr.ac.ir/browse.php?a_code=a-10-100-5
#Sucuoglu H, Ornek N, Caglar C. Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures. Case Reports In Medicine; 2015:379730. doi: 10.1155/2015/379730
#http://eds.b.ebscohost.com/ehost/detail/detail?vid=6&amp;sid=36c97c40-cd60-4ba7-84d5-ba9f7e5a3eec%40sessionmgr103&amp;hid=121&amp;bdata=JmxvZ2luLmFzcCZzaXRlPWVob3N0LWxpdmUmc2NvcGU9c2l0ZQ%3d%3d#AN=113625093&amp;db=a9h
 
== Resources  ==
*https://www.amcsupport.org/faqsaboutamc.html
== References  ==
== References  ==


<references /><br>
<references /><br>  


[[Category:Conditions]]  
[[Category:Conditions]]
[[Category:Joints]]  
[[Category:Joints]]
[[Category:Clubfoot]]  
[[Category:Clubfoot]]
[[Category:Bellarmine_Student_Project]]
[[Category:Bellarmine Student Project]]
[[Category:Paediatrics]]
[[Category:Paediatrics]]
[[Category:Conditions - Paediatrics]]
[[Category:Paediatrics - Conditions]]
[[Category:Foot]]
[[Category:Foot - Conditions]]
[[Category:Clubfoot Content Development Project]]
[[Category:Syndromes]]
[[Category:Course Pages]]

Latest revision as of 10:07, 28 April 2023

Original Editors - Casey Sisk and Shelby White

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

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.[1] If a congenital contracture forms in just one area, it is not considered AMC. Instead it is referred to as an isolated congenital contracture (e.g. clubfoot).[2] AMC is a non-progressive condition of unknown cause that is diagnosed at birth.

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] There are over 400 conditions and syndromes that come under the umbrella of AMC, so the following categories have been proposed:[3]

  • Amyoplasia
  • Distal
  • Other types of arthrogryposis


The prognosis of AMC depends on the underlying cause of the condition in each individual, 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 are stillborn or die before their first birthday.[3]

For more information on AMC, please see the AMSCI website.

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[4]

The most typical presentations of AMC are:[5]

  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

Depending on the type of AMC, individuals may also present with:

  • Neurologic conditions including epilepsy, defects in neural migration, cerebral hypoplasia, holoprosencephaly, pyramidal tract degeneration, and olivopontocerebellar degeneration[6]
  • Congenital heart defect[6]
  • Respiratory problems[6]

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.[7] There are several theories on the cause of AMC, including:

  • Decreased movement in utero allowing excessive connective tissue to form around the joints (i.e. fibrous ankylosis).[8][9] This can cause the joint to become fixed / 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[6]
AMC Cartoon 2.png
  • Chromosomal disorders[2]
  • Connective tissue disorders[2]
  • Less commonly, AMC 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, the differential diagnosis covers many conditions and symdromes. Conditions that might be considered in a differential diagnosis, include:[10]

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[6]
  • 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[11]
  • 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.[12]

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 further muscle atrophy. Based on current evidence, physiotherapy treatments for AMC might include:

  • Gentle joint manipulation[2]
  • Use of removable splints for the knees and feet that enable movement[2]
  • Night splints are often used from around 1.5 years until age 10, and braces for as long as needed[5]
  • Application of appropriate orthotics to assist mobility and enhance independence[13]
  • Serial casting of contracted joints[4]
  • Standing programmes
  • Muscle strengthening, specifically the hip extensors, quadriceps, and shoulder depressors[4]
  • Stretching of joint and muscle contractures to promote active movement and avoid immobilisation[14]
  • Establishing a home stretching programme with family / caregivers (3-5 times a day, 3-5 repetitions per set, holding each stretch 20-30 seconds)[7]
  • Aquatic therapy [8]
  • Hippotherapy[8]
  • Prescribing assistive devices (e.g. gait trainer, a walker, crutches, etc)[8]
  • Dynamic trunk strengthening
  • Ambulation either independently or with an assistive device
  • Physiotherapy specifically for infants might include: gross motor skills (rolling, sitting, crawling, standing, walking, etc),[8] foot abduction braces, thermoplastic serial splinting, position activities such as stretching the hip flexors and prone positioning, and standing in a standing frame/stander.[7]

Surgical Management[edit | edit source]

Surgical options might be considered if joint contractures persist after other rehabilitation approaches have been tried. Surgical options vary depending on the location of the contractions.

Surgical interventions may include osteotomies and tendon/ muscle lengthening.[8] In AMC, the tissues surrounding the contracted joint are also affected, which can add complexity to treatment.[15] 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.[16]

If surgery is being discussed as an option for the child, the following factors are relevant to consider:

  • Soft tissue surgery, such as 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 often applied post-operatively[16]

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. ↑ 3.0 3.1 AMSCI. What is Arthrogryposis Multiplex Congenita (AMC)?. Available from: https://www.amcsupport.org/about-arthrogryposis (last accessed 24 April 2023).
  4. ↑ 4.0 4.1 4.2 Perajit E, Kamolporn K, Ekasame V. Walking ability in patients with arthrogryposis multiplex congenita. Indian Journal Of Orthopaedics. 2014; 48(4): 421-425.
  5. ↑ 5.0 5.1 Eskay K. Paediatric Conditions – Down Syndrome, Duchenne Muscular Dystrophy, Osteogenesis Imperfecta and Arthrogryposis Multiplex Congenita Course. Plus, 2023.
  6. ↑ 6.0 6.1 6.2 6.3 6.4 Kalampokas E, Kalampokas T, Sofoudis C, Deligeoroglou E, Botsis D. Diagnosing Arthrogryposis Multiplex Congenita: A Review. ISRN Obstetrics & Gynecology. 2012;264918.
  7. ↑ 7.0 7.1 7.2 Campbell SK, Palisano RJ, Orlin MN. Physical therapy for children. 4th ed. St. Louis, MO: Elsevier/Saunders; 2012. p313–32.
  8. ↑ 8.0 8.1 8.2 8.3 8.4 8.5 AMCSUPPORT.ORG | Arthrogryposis Multiplex Congenita Support, Inc. Available from: https://www.amcsupport.org/about-us:accessed 2 April 2016)
  9. ↑ 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)
  10. ↑ 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
  11. ↑ 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.
  12. ↑ Johns Hopkins Medicine. Arthrogryposis. Available from https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis (last accessed 24 April 2023).
  13. ↑ Bartonek Å. The use of orthoses and gait analysis in children with AMC. Journal Of Children's Orthopaedics. 2015; 9(6): 437-447.
  14. ↑ 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)
  15. ↑ 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)
  16. ↑ 16.0 16.1 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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