Arthrogryposis Multiplex Congenita: Difference between revisions
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== Definition/Description == | == Definition/Description == | ||
Arthrogryposis Multiplex Congenita (AMC) is a condition at birth that | Arthrogryposis Multiplex Congenita (AMC) is a condition at birth that causes stiff, crooked, contracted joints. It leads to a loss in 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 an overgrowth or proliferation of tissue in the joint, which is referred to as 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> AMC is a non-progressive condition that is diagnosed at birth. | ||
The primary impairments of children diagnosed with AMC are: | The primary impairments of children diagnosed with AMC are: | ||
* | * decreased joint movement | ||
* | * 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]] | [[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. | AMC affects roughly 1 in every 3,000 individuals and it is a congenital condition present at birth. It affects males and females 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> | ||
The incidence of specific deformities in individuals with AMC 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> | |||
*[[Clubfoot Content Development Project|Clubfoot]]: 1/500 | *[[Clubfoot Content Development Project|Clubfoot]]: 1/500 | ||
*Congenital dislocated hips: | *Congenital dislocated hips: 1/200 - 1/500 | ||
*All congenital contractures: | *All congenital contractures: 1/100 - 1/250 | ||
*Multiple contractures: 1/3000 | *Multiple contractures: 1/3000 | ||
| Line 30: | Line 30: | ||
*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) | ||
*Usually painless to the child <ref name="Perajit" /> | *Usually painless to the child<ref name="Perajit" /> | ||
==== Most Typical Presentations of AMC ==== | ==== Most Typical Presentations of AMC ==== | ||
# Flexed and dislocated hips, extended knees, clubfeet, internally rotated shoulders, flexed elbows, and flexed | # Flexed and dislocated hips, extended knees, clubfeet, internally rotated shoulders, flexed elbows, and wrists flexed with ulnar deviation | ||
# Abducted and externally rotated hips, flexed knees, clubfeet, internally rotated shoulder, extended elbows, and flexed | # Abducted and externally rotated hips, flexed knees, clubfeet, internally rotated shoulder, extended elbows, and wrists flexed with ulnar deviation<ref name="Campbell" /> | ||
==== Four groups of AMC <ref name="AMC Support" /> ==== | ==== Four groups of AMC<ref name="AMC Support" /> ==== | ||
# Only limbs affected | # Only limbs affected | ||
| Line 43: | Line 43: | ||
# Limb involvement and severe central nervous dysfunction. | # Limb involvement and severe central nervous dysfunction. | ||
==== Other classification systems <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> ==== | ==== Other classification systems<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> ==== | ||
#Primarily musculoskeletal involvement; | #Primarily musculoskeletal involvement; | ||
| Line 50: | Line 50: | ||
== Associated Co-morbidities == | == 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. | 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 who 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 level of care for these infants, continual monitoring of their respiratory functioning is encouraged. If these individuals were to contract an upper respiratory infection, it could have life-threatening effects because of the underdeveloped muscles and spinal deformities already present.<ref name="AMC Support" /> | ||
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.<ref name="AMC Support" /><ref name="Chen">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)</ref> | |||
==== 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 ==== | ==== Systemic Involvement ==== | ||
*Neurologic abnormalities including epilepsy, defects in neural migration, cerebral hypoplasia, holoprosencephaly, pyramidal tract degeneration, and olivopontocerebellar degeneration | *Neurologic abnormalities 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 & Gynecology. 2012;264918. doi: 10.5402/2012/264918</ref> | ||
*Congenital heart defect <ref name="Kalampokas" /> | *Congenital heart defect<ref name="Kalampokas" /> | ||
*Respiratory problems<ref name="Kalampokas" /><br> | *Respiratory problems<ref name="Kalampokas" /><br> | ||
== | == Aetiology == | ||
[[Image:AMC Cartoon 2.png|right|2x2px]]Although the definite cause and | [[Image:AMC Cartoon 2.png|right|2x2px]]Although the definite cause and aetiology of AMC is unknown, 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 | *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 fetus.<ref name="Hall" /> | ||
*Multiple factors including genetic and environmental | *Multiple factors including genetic and environmental factors<ref name="Kalampokas" /> | ||
[[Image:AMC Cartoon 2.png|frame]] | [[Image:AMC Cartoon 2.png|frame]] | ||
| Line 75: | Line 74: | ||
* Connective tissue disorders<ref name="Hall" /> | * Connective tissue disorders<ref name="Hall" /> | ||
*A common cause can be disorders arriving from the muscles including muscular dystrophy, mitochondrial disorders, myositis, and myopathies | *A common cause can be disorders arriving from the muscles including muscular dystrophy, mitochondrial disorders, myositis, and myopathies<ref name="Kalampokas" /> | ||
== Differential Diagnosis == | == Differential Diagnosis == | ||
AMC requires differentiation from other arthrogryposis types. | AMC requires differentiation from other arthrogryposis types. There are approximately 150 other syndromes in this phenotype with stiff joints.<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> Other possible differential diagnoses include:<ref name="Gucev" /> | ||
*Bony | *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)] | ||
*Multiple pterygium syndrome | *Multiple pterygium syndrome | ||
| Line 87: | Line 86: | ||
*[https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome Freeman-Sheldon Syndrome] | *[https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome Freeman-Sheldon Syndrome] | ||
== Diagnostic Tests | == Diagnostic Tests == | ||
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: | 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: | ||
*[[Ultrasound Scans|Ultrasound]]- used to diagnose lack of | *[[Ultrasound Scans|Ultrasound]]- used to diagnose lack of foetal mobility and abnormal position in the womb<ref name="Kalampokas" /> | ||
*Nerve conduction, electromyography and muscle biopsy - diagnose myopathic or neuropathic disorder <ref name="Hall" /> | *Nerve conduction, electromyography and muscle biopsy - diagnose myopathic or neuropathic disorder<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" /> | ||
Revision as of 12:21, 23 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
Definition/Description[edit | edit source]
Arthrogryposis Multiplex Congenita (AMC) is a condition at birth that causes stiff, crooked, contracted joints. It leads to a loss in 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 an overgrowth or proliferation of tissue in the joint, which is referred to as fibrous ankylosis.[1] AMC is a non-progressive condition that is diagnosed at birth.
The primary impairments of children diagnosed with AMC are:
- decreased joint movement
- decreased muscle strength and bulk[2]
Prevalence[edit | edit source]
AMC affects roughly 1 in every 3,000 individuals and it is a congenital condition present at birth. It affects males and females equally and it occurs in Asian, African and European populations.[3]
The incidence of specific deformities in individuals with AMC are as follows: [4]
- Clubfoot: 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][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
- Abnormally 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[5]
Most Typical Presentations of AMC[edit | edit source]
- Flexed and dislocated hips, extended knees, clubfeet, internally rotated shoulders, flexed elbows, and wrists flexed with ulnar deviation
- Abducted and externally rotated hips, flexed knees, clubfeet, internally rotated shoulder, extended elbows, and wrists flexed with ulnar deviation[2]
Four groups of AMC[1][edit | edit source]
- Only limbs affected
- Limbs and trunk involvement
- Limb, head/face and organ involvement
- Limb involvement and severe central nervous dysfunction.
Other classification systems[6][edit | edit source]
- Primarily musculoskeletal involvement;
- Musculoskeletal involvement plus other system anomalies
- 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 who have central nervous system dysfunction in addition to the contractures do not live through their first year.[1] In order to ensure the highest level of care for these infants, continual monitoring of their respiratory functioning is encouraged. If these individuals were to contract an upper respiratory infection, it could 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.[1][7]
Other possible effects of AMC include:[1][edit | edit source]
- Undescended testes
- Eating difficulties due to difficulty swallowing and jaw opening weakness.
Systemic Involvement[edit | edit source]
- Neurologic abnormalities including epilepsy, defects in neural migration, cerebral hypoplasia, holoprosencephaly, pyramidal tract degeneration, and olivopontocerebellar degeneration[8]
- Congenital heart defect[8]
- Respiratory problems[8]
Aetiology[edit | edit source]
Although the definite cause and aetiology of AMC is unknown, it is believed that this condition begins in the first trimester of pregnancy.[2] 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 fetus.[3]
- Multiple factors including genetic and environmental factors[8]
- A common cause can be disorders arriving from the muscles including muscular dystrophy, mitochondrial disorders, myositis, and myopathies[8]
Differential Diagnosis[edit | edit source]
AMC requires differentiation from other arthrogryposis types. There are approximately 150 other syndromes in this phenotype with stiff joints.[9] Other possible differential diagnoses include:[9]
- Bony fusion (symphalangism, coalition, synostosis)
- Contractural arachnodactyly (Beals syndrome)
- Multiple pterygium syndrome
- Lethal multiple pterygium syndrome
- Osteochondrodysplasias
- Distal arthrogryposis
- Freeman-Sheldon Syndrome
Diagnostic Tests[edit | edit source]
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:
- Ultrasound- used to diagnose lack of foetal mobility and abnormal position in the womb[8]
- Nerve conduction, electromyography and muscle biopsy - diagnose myopathic or neuropathic disorder[3]
- Imaging studies of the central nervous system (CNS)[3]
- Comparative genomic hybridization (CGH) array[3]
- DNA Microarray[3]
- Exome studies[3]
Medical Management (current best evidence)[edit | edit source]
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.
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.[1] 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.[10] 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.[3] 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.[7] 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.[7]
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.[11] Other research has been conducted on using a femoral-sciatic nerve block through either neurostimulation or ultrasound for distal arthrogryposis cases.[12]
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. [7]
Physical Therapy Management (current best evidence)[edit | edit source]
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:
- Gentle joint manipulation[3]
- Management of removable splints for the knees and feet to assist in permitting regular muscle movement [3]
- Management of orthotics that can assist in gait and independence for children with AMC.[13]
- Serial casting of contracted joints[5]
- Strengthening the patient’s muscles, specifically the hip extensors, quadriceps, and shoulder depressors.[5]
- Stretching of joint and muscle contractures assists in promoting active muscle use to avoid immobilization.[6]
- 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 [2]
- Aquatic therapy [1]
- Hippotherapy[1]
- Teaching a patient how to use an assistive device such as a gait trainer, a walker, crutches, orthotics, etc.[1]
- Dynamic strengthening of the trunk
- Ambulation either independently or with an assistive device
- Specifically in infants physical therapy can include: gross motor skills (rolling, sitting, crawling, standing, walking, etc)[1], foot abduction braces, thermoplastic serial splinting, position activities such as stretching the hip flexors and prone positioning, and standing in a standing frame/stander.[2]
Resources[edit | edit source]
References[edit | edit source]
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 AMCSUPPORT.ORG | Arthrogryposis Multiplex Congenita Support, Inc. Available from: https://www.amcsupport.org/about-us:accessed 2 April 2016)
- ↑ 2.0 2.1 2.2 2.3 2.4 Campbell SK, Palisano RJ, Orlin MN. Physical therapy for children. 4th ed. St. Louis, MO: Elsevier/Saunders; 2012. p313–32.
- ↑ 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 3.11 3.12 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)
- ↑ 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)
- ↑ 5.0 5.1 5.2 Perajit E, Kamolporn K, Ekasame V. Walking ability in patients with arthrogryposis multiplex congenita. Indian Journal Of Orthopaedics. 2014; 48(4): 421-425.
- ↑ 6.0 6.1 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)
- ↑ 7.0 7.1 7.2 7.3 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)
- ↑ 8.0 8.1 8.2 8.3 8.4 8.5 Kalampokas E, Kalampokas T, Sofoudis C, Deligeoroglou E, Botsis D. Diagnosing Arthrogryposis Multiplex Congenita: A Review. ISRN Obstetrics & Gynecology. 2012;264918. doi: 10.5402/2012/264918
- ↑ 9.0 9.1 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
- ↑ 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)
- ↑ 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.
- ↑ 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.
- ↑ Bartonek Å. The use of orthoses and gait analysis in children with AMC. Journal Of Children's Orthopaedics. 2015; 9(6): 437-447.
