Arthrogryposis Multiplex Congenita

NewsBot · Jun 27, 2015

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Treatment of Foot Deformities in Arthrogryposis Multiplex Congenita
Bart Kowalczyk, MD, PhD; Jaroslaw Feluś, MD, PhD
JBJS Reviews, 2015 Jun; 3 (6): e4. http://dx.doi.org/10.2106/JBJS.RVW.N.00103

➢ The goal of treatment of arthrogrypotic foot deformities should be to achieve a plantigrade, pain-free, and functional platform that is suitable for standing, walking, or at least standard shoe wear.

➢ Treatment should be started as early as possible, before adaptive contractures and bone deformities increase the overall stiffness of the feet.

➢ Manual corrections and casting based on the Ponseti principles, followed by minimal additional operative treatment, can lead to successful results in patients with all types of arthrogrypotic foot deformities and should be the standard initial treatment.

➢ Recurrent deformities causing obstacles to everyday function should be addressed with use of the minimum operative intervention, depending on the kind of deformity.

➢ Individually adjusted bracing as well as intensive physical therapy are recommended to maintain correction.
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NewsBot · Nov 10, 2015

Results of Primary Talectomy for Clubfoot in Infants and Toddlers with Arthrogryposis Multiplex Congenita.
Chotigavanichaya C, Ariyawatkul T, Eamsobhana P, Kaewpornsawan K
Journal of the Medical Association of Thailand = Chotmaihet Thangphaet [2015, 98 Suppl 8:S38-41

Equinovarus deformity in arthrogryposis multiplex congenita patients is rigid and difficult to treat. Radical soft tissue operations yielded good results though recurrence of deformity was high. Talectomy is a bony procedure recommended as either a salvage procedure or a primary operation.To evaluate the results ofprimary talectomy in infant and toddler patients retrospectively.Arthrogryposis multiplex congenita patients with rigid equinovarus deformity treated with talectomy initially were retrospectively reviewed. Pain score, residual foot deformity, shoe modification, and ambulatory status were assessed.Talectomy were performed in 19 arthrogrypotic feet in 10 infants and toddlers. There were 6 males and 4 females. The mean age at surgery was 1.3 years old and the mean age of the follow-up time was 4.9 years. All patients had plantigrade foot without pain. One arthrogrypotic foot required posteromedial release 2 years after index surgery due to recurrent deformity.Talectomy as theprimaryprocedure in arthrogrypotic infants and toddlers demonstrated good results withfew residual deformities and recurrence. Patients could achieve plantigrade position.
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NewsBot · Jan 30, 2016

Gait dynamics in the wide spectrum of children with arthrogryposis: a descriptive study.
Eriksson M et al
BMC Musculoskelet Disord. 2015 Dec 9;16(1):384.

BACKGROUND:
Arthrogryposis Multiplex Congenita (AMC) is a heterogeneous condition characterized by multiple joint contractures at birth. Greater movements in the trunk and pelvis during walking have been observed in children with AMC using orthoses compared to those wearing only shoes. This study investigated gait dynamics in children with AMC and identified compensatory mechanisms that accommodate walking.
METHODS:
Twenty-six children with AMC who walked with orthoses or shoes and a control group consisting of 37 typically-developing children were evaluated in 3D gait analysis. Children with AMC were divided into subgroups based on which joints needed to be stabilized in the sagittal plane; AMC1 used knee-ankle-foot orthoses (KAFOs) with locked knee joints, AMC2 used KAFOs with open knee joints or ankle-foot orthoses, and AMC3 used shoes.
RESULTS:
The Gait Deviation Index was lower in AMC groups than in the control group, with the lowest in AMC1. Excessive trunk movements in frontal and transverse planes were observed in AMC2 and especially in AMC1. Lower hip flexion moment was found in AMC1, while AMC2 and AMC3 showed similar hip flexion moments as the control group. Knee extension moments were similar between the groups. In the frontal plane there were only small differences between the groups in hip abduction moment. A joint work analysis indicated greater contribution from the hip muscles to overall positive work in AMC groups, particularly in AMC1, than in the control group.
CONCLUSION:
All AMC groups showed less hip extension than the control group, but hip flexion moment was significantly lower only in AMC1, which can be attributed to their gait strategy with bilateral locked KAFOs. AMC1, who had weak knee extensors, were helped by their locked KAFOs and therefore showed similar knee extension moment as the other groups. This finding, together with their gait patterns, demonstrates the children's high reliance on hip muscles and presumably trunk muscles to provide propulsion. Our study shows that with adequate orthotic support, children with AMC and even with severe weakness and contractures can achieve walking.
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NewsBot · Jul 19, 2019

Challenging clubfeet: the arthrogrypotic clubfoot and the complex clubfoot.
van Bosse HJP
J Child Orthop. 2019 Jun 1;13(3):271-281

Within the realm of clubfoot deformities, teratologic and complex (or atypical) clubfeet stand out as the most difficult. Exemplarities of the teratologic types of clubfoot are those associated with arthrogryposis multiplex congenita. Treatment of arthrogrypotic clubfoot deformities has been controversial; many different procedures have been advocated, with variable success rates. These clubfeet have a high recurrence rate, regardless of treatment type. Often, the high recurrence rate has led to a high repeat surgery rate, and poor outcomes. Treatment strategies should highlight care that avoids the development of a stiffened foot and allows for a variety of options to regain correction when a relapse occurs. Modifications of the Ponseti method for idiopathic clubfeet have been successful in managing the deformity. The equinocavus variant of the arthrogrypotic clubfoot should be distinguished from the classic clubfoot, as it requires a different treatment method. The equinocavus clubfoot is very similar to the complex or atypical clubfoot. The complex, or atypical, clubfoot also requires a different treatment strategy compared with the typical idiopathic congenital clubfoot. The complex clubfoot appears to be idiopathic in some cases and iatrogenic (due to slipping stretching casts) in others. Dr. Ponseti's modification of his protocol has been effective in treating the deformity. The high recurrence rate suggests the difficulty in maintaining the deformity after correction. The author's preferred treatment for each deformity is included, with an emphasis on minimally invasive methods
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NewsBot · Sep 5, 2019

Treatment and outcomes of arthrogryposis in the lower extremity.
Hamdy RC et al
Am J Med Genet C Semin Med Genet. 2019 Sep 3

In this multiauthored article, the management of lower limb deformities in children with arthrogryposis (specifically Amyoplasia) is discussed. Separate sections address various hip, knee, foot, and ankle issues as well as orthotic treatment and functional outcomes. The importance of very early and aggressive management of these deformities in the form of intensive physiotherapy (with its various modalities) and bracing is emphasized. Surgical techniques commonly used in the management of these conditions are outlined. The central role of a multidisciplinary approach involving all stakeholders, especially the families, is also discussed. Furthermore, the key role of functional outcome tools, specifically patient reported outcomes, in the continuous monitoring and evaluation of these deformities is addressed. Children with arthrogryposis present multiple problems that necessitate a multidisciplinary approach. Specific guidelines are necessary in order to inform patients, families, and health care givers on the best approach to address these complex conditions.
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NewsBot · Feb 9, 2020

The 5-Year Outcome of the Ponseti Method in Children With Idiopathic Clubfoot and Arthrogryposis.
Church C et al
J Pediatr Orthop. 2020 Feb 6

BACKGROUND:
The Ponseti method effectively treats idiopathic clubfoot, but its effectiveness in treating the stiffer clubfoot associated with arthrogryposis is less clear. The purpose of this study was to assess the comparative effectiveness of the Ponseti method in 5-year-old children with either idiopathic clubfoot or clubfoot due to arthrogryposis.

METHODS:
The outcomes of the Ponseti method were retrospectively evaluated in children with idiopathic clubfoot and clubfoot associated with arthrogryposis. The children with clubfoot were seen at our hospital between 2012 and 2019 and were 4.0 to 6.9 years old at the time of their evaluation. Outcomes of the 2 groups of children with clubfoot were assessed using passive range of motion, foot pressure analysis, the Gross Motor Function Measure Dimension-D, and parent report using the Pediatric Outcomes Data Collection Instrument. These results were also compared with the same measures from a group of typically developing children. Surgical and bracing history was also recorded.

RESULTS:
A total of 117 children were included (89 idiopathic clubfoot and 28 associated with arthrogryposis) with an average age of 4.8±0.8 years. The historical gait analyses of 72 typically developing children were used as a control, with an average age of 5.2±0.8 years. Significant residual equinovarus was seen in both children with idiopathic clubfoot and associated with arthrogryposis according to passive range of motion and foot pressure analysis when compared with normative data. Children with arthrogryposis demonstrated limited transfer and basic mobility, sports functioning, and global functioning while children with idiopathic clubfoot were significantly different from their typically developing peers in only transfer and basic mobility.

CONCLUSIONS:
Although children with idiopathic clubfoot continue with some level of residual deformity, the Ponseti method is effective in creating a pain-free, highly functional foot. In children with clubfoot associated with arthrogryposis, the Ponseti method is successful in creating a braceable foot that can delay the need for invasive surgical intervention.
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NewsBot · Jun 16, 2022

Disability and Quality of Life After Talectomy for Arthrogryposis Multiplex Congenita
Ahmet Sevencan et al
Foot Ankle Int. 2022 Jun 14

Background: Arthrogryposis multiplex congenita (AMC) is one of the causes of rigid and resistant clubfoot. Talectomy is considered as a primary or salvage procedure for recurrent equinovarus deformity in these patients. We conducted this study to assess patients with AMC who underwent talectomy for the correction of foot and ankle deformities in terms of health-related quality of life and disability.

Methods: Patients under 10 years of age with a primary diagnosis of AMC who underwent talectomy and attended follow-up for at least 5 years were included in this study. We also formed an age- and gender-matched control group consisting of 20 individuals without any foot-ankle problem in order to compare the measurements between the AMC and healthy groups. Oxford Ankle Foot Questionnaire (OxAFQ) was administered as a health-related quality of life instrument to objectively measure the disability of the pediatric patients.

Results: Twenty patients (10 girls, 10 boys) who underwent a total of 35 talectomy operations with an average follow-up of 7.2 years and a control group of 20 similarly aged unaffected children were included in the study. The mean OxAFQ scores were significantly lower in the AMC group than in the controls for all domains (physical, emotional, and school and play), especially for the one concerning satisfaction with footwear The presence of plantigrade foot and absence of forefoot supination were significantly associated with the physical and footwear domains of the OxAFQ scores. The presence of hindfoot varus, midfoot adductus, dorsal bunion, and having less than 10 degrees of dorsiflexion had no effect on the OxAFQ scores.

Conclusion: In this study, we found that the major driving factors for satisfaction after talectomy for AMC were plantigrade foot and absence of forefoot supination. The mean OxAFQ scores were universally lower in the AMC group than controls. Finding comfortable footwear is a major concern for the AMC patients.
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NewsBot · Oct 15, 2022

Talectomy for Arthrogrypotic Foot Deformities: A Systematic Review
SamiCherguiHussainAl-AliYousefMarwanKhaled AbuDaluNoémiDahan-OlielReggie C.Hamdy
Foot and Ankle Surgery; 15 October 2022

Background
Arthrogryposis multiplex congenita (AMC) is one of the most common congenital joint contracture syndromes. Talectomy has been proposed for severe foot deformities in AMC, but the literature is limited. The purpose of this systematic review is to evaluate the indications, outcomes and complications of talectomy in arthrogrypotic foot deformities.

Methods
The articles were found through Embase and Medline. Screening was conducted by two independent investigators with disagreements resolved by a third reviewer. Relevant data regarding demographics, outcomes and complications were collected.

Results
Of 232 feet, 71.98% and 62.22% had clinical and radiographic improvements respectively. Amongst 122 patients, 92.62% could ambulate following surgery. Recurrent deformities and revision surgery were seen in 16.81% and 13.36% of cases respectively.

Conclusions
Talectomy is a valid surgical option for severe arthrogrypotic foot deformities with favorable post-operative outcomes and low complication rate.
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NewsBot · Jan 11, 2023

The Effectiveness of Serial Casting in the Treatment of Recurrent Equinovarus in Children With Arthrogryposis
Chris Church et al
J Pediatr Orthop. 2023 Feb 1;43(2):117-122

Background: Arthrogryposis multiplex congenita (AMC) is characterized by joint contractures in 2 or more body areas, often resulting in clubfoot deformities that are typically stiffer than those seen in idiopathic clubfoot deformities. While surgery is routinely used to treat clubfoot in AMC, it has a high rate of recurrence and complications. Current literature suggests serial casting (SC) could be useful in treating clubfoot in AMC, though evidence of its effectiveness is limited.

Methods: Passive range of motion (PROM), dynamic foot pressure, parent-reported Pediatric Outcomes Data Collection Instrument, brace tolerance, and the need for post-casting surgery were evaluated retrospectively in children with AMC treated with SC to address clubfoot deformities. Analysis of variance or paired t tests were used as appropriate on pre-casting, short-term (within 6 mo after SC) and/or longer-term (6 to 18 mo after SC) parameters to determine the effectiveness of SC. Brace tolerance before and after SC was analyzed using the Global Test for Symmetry, and medical records were reviewed to determine the need for surgery post-SC.

Results: Forty-six children (6.1±3.1 y old) were cast an average of 2.5±1.9 times, resulting in 206 SC episodes. PROM showed improvement in ankle dorsiflexion and forefoot abduction in the short term (P<0.05), returning to baseline measurements in the long term (P=0.09). Brace tolerance improved after casting (P<0.05). Only 15% of feet required surgery at follow-up at 10.3±5.5 years. There were no significant changes in dynamic foot pressure or Pediatric Outcomes Data Collection Instrument results after SC, except for an increase in the pain subtest (P<0.05).

Conclusions: Serial casting in children with AMC can be effective in temporarily improving PROM and improving brace tolerance, but it does not impact dynamic barefoot position. Positive impact of conservative management in children with AMC can potentially delay or reduce the need for invasive surgical intervention by improving PROM and brace tolerance.
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NewsBot · Jan 12, 2023

News Release 12-Jan-2023
Oversensitive sensory neurons can cause joint deformities

Excessive mechanosensation in the neurons that enable the sense of one’s limbs in space can disrupt musculoskeletal development and cause joint deformities like arthrogryposis, researchers report. Their study also provides proof of concept that reducing this heightened sensory neuronal activity (via Botox or special diet) during a critical age could be a viable way to treat some musculoskeletal conditions in a non-invasive manner. Distal arthrogryposis (DA) is a disorder characterized by congenital joint deformities, or contractures, that often restrict movement in the hands and feet and is estimated to afflict roughly one in 3,000 individuals worldwide. Alleviating the symptoms often requires invasive surgeries. Although mutations in genes associated with muscle and joint function have been linked to DA, gain-of-function mutations in PIEZO2 – a principal mechanosensor in sensory neurons that underlies touch sensation, proprioception, and other mechanosensory processes – have been found in patients with DA subtype 5 (DA5). However, the mechanism by which PIEZO2 mutations cause DA is unknown. Using a mouse model, Shang Ma and colleagues found that over-expression of the mutant Piezo2 gain-of-function allele in proprioceptive neurons that enervate muscles and tendons during a critical postnatal period during development can cause joint contracture. These defects were not caused when the dysfunctional allele was expressed in skeletal muscles, cartilage, or tendons. According to Ma et al., Botox injection and a dietary fatty acid commonly found in fish reduced joint and tendon defects. “The study by Ma et al. provides exciting new insights into the mechanisms that cause DA,” writes Urich Müller in a related Perspective. “Finding that expression of the gain-of-function allele of Piezo2 in young adult mice does not cause DA symptoms is reassuring. It narrows down a time window for potential therapeutic intervention that could lead to lifelong improvement for the affected patients.”

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