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| CASE REPORT |
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| Year : 2022 | Volume
: 5
| Issue : 3 | Page : 114-118 |
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Multidisciplinary management of arthrogryposis multiplex congenita type 2A case
Ranaivondrambola Ando Tatiana1, Randrianasolo Ruth Pascale2, Tidahy Ando Servino3, Solofomalala Gaëtan Duval4
1 Department of Physical and Rehabilitation Medicine, Faculty of Medicine of Antananarivo, Equipment Teaching Hospital of Madagascar, Mahamasina, Madagascar
2 Department of Physical and Rehabilitation Medicine, Faculty of Medicine of Antananarivo, Teaching Hospital of Anosiala, Madagascar
3 Department of Physical and Rehabilitation Medicine, Faculty of Medicine of Mahajanga, Madagascar
4 Department of Orthopedic surgery, Faculty of Medicine of Antananarivo, Teaching Hospital of Anosiala, Madagascar
| Date of Submission | 11-Apr-2022 |
| Date of Decision | 07-Jul-2022 |
| Date of Acceptance | 06-Sep-2022 |
| Date of Web Publication | 30-Sep-2022 |
Correspondence Address:
Dr. Ranaivondrambola Ando Tatiana
Equipment Teaching Hospital of Madagascar, Mahamasina
Madagascar
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/2349-7904.357691
Arthrogryposis multiplex congenita (AMC) is a congenital disorder characterized by nonprogressive multiple joint contractures affecting one or more areas of the body, muscle weakness, and fibrosis. This term includes a heterogeneous group of diseases, neurological, neuromuscular, and genetic or mechanical origin. Two types of classification have been developed: A clinical one (types I, II, and III) and an etiological one. A multidisciplinary approach is needed for better care and appropriate follow-up. It is a case of AMC type 2A. A girl, with an antecedent of low levels of amniotic fluid, presented at birth with multiple malformations and stiffness of several articulations: bilateral clubfoot, bilateral clubhand, temporomandibular joint involvement, postural torticollis, and congenital hip dislocation. She had also a small persistence of arterial canal and ambiguous external genitalia. The care was performed by a multidisciplinary team including a physiatrist, pediatric surgeon, physiotherapist, prosthetist, and orthotist. In infants with arthrogryposis, joint stiffness is maximal at birth. The first step is passive mobilizations before surgical joint treatment. Azbell et al. found in their study that at 9 months of age, many of this infant's impairments of body structure and function, functional activity limitations, and participation restrictions improved. The program of stretching, muscle strengthening, facilitation of motor skills, orthopedic intervention, and parent education may have contributed to this infant's progress. Prospective intervention studies exploring specific intervention strategies are needed to establish the plan of care for these patients. Arthrogryposis describes a set of joint contractures present from birth and nonprogressive. The common physiopathological mechanism is fetal immobility syndrome. Multidisciplinary care is necessary and should be early and continued to gain maximum autonomy and facilitate social integration.
Keywords: Arthrogryposis multiplex congenital – Evolution – Follow up - Multidisciplinarity
How to cite this article:
Tatiana RA, Pascale RR, Servino TA, Duval SG. Multidisciplinary management of arthrogryposis multiplex congenita type 2A case. J Int Soc Phys Rehabil Med 2022;5:114-8 |
How to cite this URL:
Tatiana RA, Pascale RR, Servino TA, Duval SG. Multidisciplinary management of arthrogryposis multiplex congenita type 2A case. J Int Soc Phys Rehabil Med [serial online] 2022 [cited 2023 May 28];5:114-8. Available from: https://www.jisprm.org/text.asp?2022/5/3/114/357691 |
| Introduction | |  |
Arthrogryposis multiplex congenita (AMC) is a syndrome characterized by nonprogressive multiple joint contractures affecting at least two joints and one or more areas of the body and associated with muscle weakness and fibrosis. AMC is classified as type 2A when limbs and other parts of the body are affected.[1] It is a rare disorder occurring in one out of every 3000 to 5000 live births.[2] Causes include a heterogeneous group of diseases of neurological, neuromuscular, and genetic or mechanical origin. Therapeutic conduct aims to improve joint function and is different from one case to another. A multidisciplinary approach is needed for better management and appropriate follow-up of patients whose functional prognosis is unpredictable.
The purpose of this case is to report the difficulty in managing AMC and the importance of multidisciplinary management.
| Clinical Case | | |
This case report involved a girl, followed up at the Equipment Teaching Hospital of Madagascar since birth. The prenatal visit was regular and the child was born to term. Oligohydramnios and hydrorrhea were detected at since the 6th month of pregnancy associated with fetal immobility. Family histories were essentially negative. Polymalformation with contractures of several joints was noted at birth, such as bilateral congenital equinovarus clubfoot [Figure 1], bilateral club hand [Figure 2], stiffness of the temporomandibular joint with limitation of oral opening to 1 cm, limitation of abduction of both hips and knees flexion, and postural torticollis.
There was no clinical spinal and renal abnormality. She also had ambiguity of the external genitalia. There was axial hypotonia and little movement of the limbs, especially distally. Electromyography, cerebral, and spine exploration could not be performed.
X-rays at birth showed dislocation of the hips [Figure 3] and positional abnormalities in the feet. The cardiac Doppler ultrasound revealed patent ductus arteriosus at 1 and 2 mm with left–right shunt.
Care was provided by a multidisciplinary team including a pediatrician, a physiatrist, a pediatric surgeon, a physiotherapist, an occupational therapist, a prosthetist, and an orthotist. Daily physiotherapy sessions were initiated from birth with the aim of mobilizing all joints, stimulating the motor skills of the limbs, and limiting orthopedic deformities. The aim of the rehabilitation was to increase the range of motion in the joints and enhance neurodevelopmental stimulation. A program of passive stretching was carried out for all joints with contractures. The physiotherapist teaches the parents to continue stretching and posture at home. Taping was not accessible. The occupational therapist worked on psychomotor development with active exercises and daily activities such as feeding, maintaining her personal hygiene, and satisfying her basic living needs.
An abduction splint was worn 23 h a day for the hips and palmar posture splints for the clubhands 2 h alternating and during the night. A neck brace was worn daytime for the torticollis. The Ponseti method was attempted to treat the clubfoot, by doing plaster series, but this last was not successful [Figure 4], and the splint treatment was given up.
At the age of 6 months, was noted an improvement in joint stiffness and neck posture. Both feet went from Pirani score 6 to stop to 3.5 after 17 sets of weekly plaster with lateral head of talus scored 0.5, and the hindfeet scored 3. The stationary outcome had caused the end of the plaster series and the continuation of the management by physiotherapy and an ankle foot orthosis to maintain the correction which was stopped after 2 months. It was not adapted to her rigid recurrent clubfoot.
At the age of 8 months, the right hip remains dislocated. An ultrasound scan detected the presence of ossification nuclei at both hips. After team discussion, the pediatric surgeon carried out a Salter's osteotomy surgery [Figure 5] for the right hip at the age of 12 months. A tenotomy of both Achilles tendons was also performed. Physiotherapy was continued after surgery as well as the installation of a Denis-Browne splint which was not adapted to her feet and stopped.
At 18 months, good neurological evolution was noted; the girl was able to sit and pronounce two syllables. Concerning the joint, both hips were stable. A recurrence of equine and deformities of the forefoot led to a resumption of plastering series followed by a surgery to lengthen the two Achilles tendons followed by the installation of the posterior shell.
At 3-year-old, the child was able to stand with support and had 10° knee flessum. She had a functional mouth opening at 2.5 cm and her hands were less stiff [Figure 6]. The child was able to feed herself. Axial hypotonia and weakness of both lower limbs restricted her verticalization and gait ability. Daily physiotherapy sessions were continued with the aim of stimulating motor skills, strengthening muscles, and working on verticalization as well as occupational therapy sessions for the work of gripping and activities of daily living. In front of the two clubfeet, the varus equine is resistant to treatment, and arthrodesis of the two ankles [Figure 7] is planned, to promote ambulation after a possible acquisition of the standing position linked to muscular evolution.
| Discussion | | |
Fetal immobility syndrome is a common mechanism that causes arthrogryposis. It defines a set of deformities resulting from the reduction or suppression of active fetal movements.[1] The precocity and importance of the decrease in fetal movements during pregnancy determine the severity of manifestations at birth.[3] A study carried out by fetopathologists had demonstrated the correlation between the appearance and intensity of joint contractures during arthrogryposis with the duration of exposure to oligohydramnios.[4] The fetus depends on a fluid environment for growth, in other words, the liquor distended and stimulated the uterus to enlarge allowing the fetus the freedom of movement necessary for its growth.[5]
The management of AMC requires multidisciplinary teamwork. Physiotherapy should be high intensity and consists of carrying out daily passive mobilizations, sensory and motor stimulations, motor development work, and therapeutic parent education. As for the equipment, it contributes to amplifying gain in the 1st year and fighting against stiffening related to the lack of mobility and growth. It should be continued throughout growth and considered to be conservative as it prevents imbalances between agonist and antagonistic muscles.[3]
In this case report, 6 months after birth, a joint improvement was observed, except for the two resistant clubfeet. According to Forin,[2] the gains of range motion are significant, in the first 4 months of life and more often on small joints. The best joint flexibility allows joint modeling and the onset of the contraction of some muscles thus far in too shortened position. Muscle strength improves, helping to maintain or improve muscle capital often weak. In an infant with arthrogryposis, joint contracture is maximum at birth, but before any surgical treatment of the joints, the first step is passive mobilization and softening of stiffened joints. It is sometimes necessary, in the absence of improved mobility, to perform early surgical joint releases, such as tenotomy and capsulotomy.[2]
Despite early management, we did not detect significant improvement in the lower limbs. Clubfoot, the most common foot deformity during AMC, is often resistant to serial molding[6] although the Ponseti method remains recommended for these patients, combined with a systematic tenotomy of the Achilles tendon that can be repeated if necessary. Faced with stiffness and difficulty in correcting these feet, with a significant rate of recurrence, plaster cast can be prolonged despite the risk of stiffness caused by immobilization. Relay by foot-cruro splints, if possible in extension of the knee, is essential.[3] Different authors have published rates of foot surgery ranging from 8% to 60% in children with AMC treated with the Ponseti method.[7] Clubfeet, described as more severe and rigid than idiopathic clubfeet, are the most frequent foot deformities in infants with AMC. Management strategies promoting an increased range of motion and joint stability for the upper and lower extremities are determined after careful analysis of the limiting factors in all joints. Custom-molded low-temperature orthotics, casting, and taping provide a constant or dynamic stretch to the muscle and joints.[8] An interdisciplinary intervention plan is essential in each case to discuss the management and balance the therapeutic gestures.
According to Azbell and Dannemiller, 87% of children with AMC will undergo orthopedic surgery during their growth, particularly in the lower limbs. Bernstein's team recommends that distal deformities of the lower limbs should be repaired before proximal deformities.[9] In our case, the severity of the deformity as well as the long period of immobilization by the plastering series would have influenced the slow motor development of the lower limbs in this child. The functional prognosis is difficult to establish at birth.[2] Wesley et al. suggest that treatment of the clubfoot, knees, and hip dislocation can be done at the same time and early, between 6 and 10 months to limit the time of immobilization and desocialization of the child.[10] Prospective intervention studies exploring specific intervention strategies are needed to establish the care plan for these patients.
Like any congenital pathology, the management of AMC will be intensive from the neonatal period to the end of growth. Rehabilitation should focus on three levels of treatment: body structure – the anatomical parts of the body, activity – the execution of a task or action by an individual, and participation – the involvement in a life situation.[8] Physiotherapy is at the forefront both in the development of acquisitions during childhood and in the maintenance of the acquired musculoskeletal capacities throughout life. The literature on AMC suggests that physiotherapists and occupational therapists should focus on strengthening the postural muscles and acquiring key functional motor skills to maximize mobility for age-appropriate activities.[6] Occupational therapists should work on floor mobility, transitional movements; rolling, sitting, fine motor, and exploratory play reaching, grasping, and holding.[8] However, surgery should not cause a loss of function and strength in the upper limbs, at the risk of compromising ambulation and therefore autonomy.[3] In a study carried out in Tunisia in 2014, 14 out of 22 children followed, with deformities in the lower limbs, had acquired an autonomous walk and a child walked with two canes.[11]
Social interactions in multiple environments such as schools, community libraries, and outdoor play areas should be promoted for the social development of these children. The collaboration of the parents of the children, and the creation of parents and children associations with AMC could help support parents to face the long follow-up and care of their children as well as to make essential sharing for the rehabilitation and reintegration of children with AMC. Multidisciplinary team members include the core family and multiple health-care professionals depending on the severity of AMC. To effectively impact the quality of life of a child with AMC, rehabilitation should be early, comprehensive, and multidisciplinary.[8]
| Conclusion | | |
Arthrogryposis describes a set of nonprogressive joint contractures present from birth. The common pathophysiological mechanism is fetal immobility syndrome. AMC is disabling and may compromise the functionality of limbs as well as the patient's quality of life. Long-term physiotherapy sessions are essential to ensure a better functionality of the affected joints. Multidisciplinary care and parent engagement are necessary and must be early and continuous to acquire maximum autonomy and facilitate social integration.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
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| 2. | Forin V. Arthrogryposes. EMC - Appareil Locomoteur. 2010;5:1-8. Doi:10.1016/s0246-0521(10)50140-2. |
| 3. | Centres de Référence: Anomalies du développement embryonnaire et Syndromes Malformatifs et Maladies neuromusculaires rares. Arthrogryposes multiples congénitales. Protocole National de Diagnostic et de Soins. 2021. |
| 4. | Delezoide AL, Cessot F, Moirot H. Oligoamnios and pregnancy: experience of feto-pathologists. Revue française des laboratoires. 1998;1998:47-52. |
| 5. | Hall JG. Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes. Am J Med Genet A 2014;164A: 2775-92. |
| 6. | Azbell K, Dannemiller L. A case report of an infant with arthrogryposis. Pediatr Phys Ther 2015;27:293-301. |
| 7. | Moroney PJ, Noël J, Fogarty EE, Kelly PM. A single-center prospective evaluation of the Ponseti method in nonidiopathic congenital talipes equinovarus. J Pediatr Orthop 2012;32:636-40. |
| 8. | Wagner LV, Cherry JS, Sawatzky BJ, Fąfara A, Elfassy C, Eriksson M, et al. Rehabilitation across the lifespan for individuals with arthrogryposis. Am J Med Genet C Semin Med Genet 2019;181:385-92. |
| 9. | Bernstein RM. Arthrogryposis and amyoplasia. J Am Acad Orthop Surg 2002;10:417-24. |
| 10. | Bevan WP, Hall JG, Bamshad M, Staheli LT, Jaffe KM, Song K. Arthrogryposis multiplex congenita (amyoplasia): An orthopaedic perspective. J Pediatr Orthop 2007;27:594-600. |
| 11. | Ayadia K, Triguia M, Abida A, Chenioura A, Zribia M, Keskes H. Arthrogryposis: Clinical manifestations and management. Arc Ped 2015;3983:1-10. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]
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