Arthrogryposis (multiplex congenita) is a clinical or imaging descriptor that denotes congenital non-progressive joint contractures involving two or more body. Arthrogryposis (arthrogryposis multiplex congenita – AMC) is not a separate disease entity, but is rather a descriptive diagnosis used to denote. Artrogriposis múltiple congénita (contracturas congénitas múltiples): revisión Arthrogryposis multiplex congenita (multiple congenital contractures): a review.
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Arthrogryposes — multiple joint contractures — are a clinically and etiologically heterogeneous class of diseases, where accurate diagnosis, recognition of the underlying pathology and classification are of key importance for the prognosis as well as for selection of appropriate management.
This treatment remains challenging and optimally in arthrogrypotic patients should be carried out by a team of specialists familiar with all aspects of arthrogryposis pathology and treatment modalities: In this comprehensive review article, based on literature and clinical experience, the authors present an update on current knowledge on etiology, classifications and treatment options for skeletal deformations possible in arthrogryposis.
Arthrogryposis arthrogryposis multiplex congenita — AMC is not a separate disease entity, but is rather a descriptive diagnosis used to denote more than individual diseases with varying etiologies. Their common feature is the presence of congenital, usually non-progressive joint contractures involving at least two different body areas. This class of diseases includes the so-called classic arthrogryposis — amyoplasia, with its unique clinical features such as symmetrical, severe contractures, usually involving both the upper and lower limbs [ 1 ].
Most contractures in arthrogryposis require treatment; this potentially involves multiple surgical corrections of the knees and hips, correction of spinal deformities, elbow and wrist contractures, foot deformities, and of dislocations commonly accompanying the contractures; of these, the hip and knee are the most commonly affected joints [ 2 — 4 ].
The treatment of a child, and subsequently an adult, with arthrogryposis is a challenge — not only due to the nature of the disease and the resulting surgical technical difficulties, but also due to the required logistics of the complex multi-disciplinary treatment; this involves, among others, pediatricians, physiotherapists, geneticists, orthopedic surgeons, and orthotic specialists — all of whom need thorough knowledge and experience in the treatment of arthrogryposis patients [ 5 — 9 ].
As the population of patients with arthrogryposis — due to their expected survival matching that of the general population — grows to be a relatively numerous group, a number of treating specialists will see AMC patients — whether newborn, pediatric or adult — who will require at least counseling and potentially treatment.
The objective of this review is to summarize contemporary concepts covering the topic of arthrogryposis, especially its etiology, diagnosis and treatment, for all professionals who are likely to see arthrogryposis patients, notably orthopedic surgeons, rehabilitation physicians, pediatricians, physiotherapists and nursing specialists. The term arthrogryposis is used to denote contractures involving at least two joints in two different body regions [ 2021 ].
According to Bamshad et al. Hall describes among multiple congenital joint contractures three subgroups of disorders, i. In the differential diagnostics and classification of congenital contractures, the central nervous system function is the factor of paramount importance: Normal neurological examination usually indicates that contractures have originated in the fetal life in the form of classic AMC, DA, or other diseases [ 2021 ]. The pathological mechanism of congenital joint contractures usually involves the absence of active fetal movements akinesianormally appearing in the eighth week of fetal life — fetal akinesia lasting over 3 weeks may be sufficient to result in absence of normal stretching of muscles and tendons acting on the affected joints, and cause reduced compliance of the joint capsule and periarticular ligaments, consequently leading to fibrosis and contractures of the affected joints determined by the passive position of the limb Figure 1 [ 22 ].
The earlier the restriction of active fetal motion occurs, the greater the arthrogryposis severity; it is also considered that fibrosis of periarticular structures — both the ligaments and the articular capsule — may be responsible for the tendency of the affected joints to return to their original fetal position despite the used treatment, i.
Arthrogryposis Multiplex Congenita – NORD (National Organization for Rare Disorders)
This is confirmed by experimental studies including chicken fetuses; their results indicate that the absence of active motion in embryonic joints caused by e. The effects of curare on rat embryos include multiple artrogriiposis contractures, pulmonary hypoplasia, short umbilical cord, hypoplasia of the jaw, and polyhydramnios.
These abnormalities have been termed the fetal akinesia syndrome, and a similar syndrome in humans is known as the Pena-Shokeir syndrome [ 2327 ]. The direct etiological factor causing akinesia in humans remains unknown, but a number of abnormalities can be discerned that congenia result in disruption of active movement and consequently fetal akinesia.
Clinical examples of multiple congenital contractures — arthrogryposis — in neonates. Diseases of the alpha motor neurons of the anterior spinal horns are a frequent cause of arthrogryposis, e. Banker in autopsy and microscope studies carried out on fetuses with congenital joint contractures described a number of pathologies contenita the alpha motor neurons of the anterior horns: Skeletal muscles in neurogenic types of arthrogryposis are present, but their mass is significantly reduced; in the myogenic types the number and size of muscle fibers are decreased as they are replaced by fibrous and fatty tissues.
Arthrogryposis – Wikipedia
Peripheral neuropathies resulting in the development of joint contractures can also be caused by abnormal myelination or abnormal Schwann cell growth [ 3637 ]. Abnormal neural tube development, e. Abnormalities of the fetal cholinergic receptor resulting from mutation of the CHRNG gene MIM are known to result in abnormal development of the neuromuscular junction and consequently in development of clinical features of arthrogryposis, e.
Primary myogenic multiple joint contractures myogenic type arthrogryposis are rare and may be structural or functional [ 34 ]. Myogenic amyoplasia can be caused by a defect of myogenesis-regulating genes, resulting in normal development of the connective tissue muscle matrix, developing from lateral mesoderm with simultaneous abnormal development of myocytes, originating from mesodermal somites; these are replaced by adipocytes [ 40 ].
These diseases are caused by mutations of genes encoding skeletal muscle proteins, ryanodine receptors, or mutations of the gene encoding nuclear lamins A and C laminopathies [ 40 — 49 ]. An example of connective tissue abnormality resulting in joint contractures is a group of diseases called osteochondrodysplasias; clinical symptoms of arthrogryposis are observed in many of these: Diastrophic dysplasia is characterized by dwarfism, short limbs, multiple joint contractures, talipes equinovarus, and progressive kyphoscoliosis.
The primary defect is the deficiency of sulfur enzyme in the connective tissue, mediated by a gene located in chromosome 5q [ 50 ]. Tendons, despite normal structure, may have abnormal insertions and thus cause limited active fetal motion and consequently symptomatic arthrogryposis. This mechanism has also been observed in certain forms of distal arthrogryposis [ 17 ]. Collagen disorders resulting in replacement of muscle tissue by connective tissue and thickening of joint capsules have been observed e.
Another example of arthrogryposis in connective tissue diseases is restrictive dermopathy — a usually lethal disease where a fibroblast abnormality results in loss of skin elasticity; the hard skin prevents normal fetal movements and causes joint contractures [ 53 ]. Congenital contractures may develop in children born to mothers with myasthenia gravis; in this disease, maternal antibodies against fetal acetylcholine receptors migrate through the placenta and damage the receptors, affecting the fetal muscle function and producing symptomatic arthrogryposis [ 54 — 56 ].
Elevated risk of arthrogryposis has been reported in mothers with multiple sclerosis MSdiabetes, and myotonic dystrophy [ 5758 ]. Fetal contractures can also occur in maternal diseases such as toxoplasmosis, rubella, varicella, Coxsackie viruses, and enteroviruses; toxins and drugs alcohol, d-tubocurarine, methocarbamol, misoprostol, phenytoin, and cocaine ; pyrexia or overheating hot baths, hot spaand serious abdominal trauma [ 159 — 61 ].
These include any disorders resulting in mechanical limitation of the free active movements of fetal limbs. The causes include multiple pregnancy, oligohydramnios, uterine abnormalities bicornuate uterus, uterine septumsolid tumors, and uterine fibrosis [ 62 ]. Fetal blood supply is another potential cause of reduced fetal active movements. Reduced blood supply to the artrrogriposis neural and muscular structures may cause their dysfunction, akinesia, and symptomatic arthrogryposis after birth.
Arthrogryposis is a group of clinical symptoms that can be observed in many different genetic syndromes; these may result from sporadic single-gene mutations e. Arthrogryposis in chromosomal aberrations often coexists with psychomotor retardation [ 1 ]. Some patients are mosaics: A phenotypically identical presentation of arthrogryposis can sometimes atrogriposis caused by mutations of different genes [ 66 ].
The development of molecular diagnostics has resulted in new possibilities of identification and mapping of genes responsible for arthrogryposis symptoms, i.
The central nervous system function is normal; the muscle tissue is often replaced with fatty and fibrous tissues. This type of congenital contractures is most commonly seen in orthopedic clinical practice: Artrobriposis, without appropriate treatment, their potential for independent ambulation and activities of daily living is reduced [ 68 ].
However, aside from the severity of contractures and the used treatment, this function is affected by the power of the pelvic girdle and the quadriceps muscles as well as upper limb function [ 70 ]. The quality of life is primarily determined by upper limb function and the ability to perform personal care activities [ 6 ].
The clinical picture observed in most patients with the classic four-limb involvement is as follows:. Artgogriposis standing spine radiograph demonstrating early onset scoliosis with significant thoracic and lumbar curve in 8 year old child with Muotiple.
This is a group of genetic disorders; they differ from the sporadic classic arthrogryposis in that their inheritance is autosomal dominant.
They are characterized by contractures limited mainly to the distal portions of the limbs, i. Contractures of other joints are low-degree or are absent altogether [ 1721 ]. The diagnosis of distal arthrogryposis requires that two out of the described diagnostic criteria for upper and lower extremities are met. In the upper limb, these are: The criteria for the lower limb are: In familial multiple congenital contractures, the presence of only one of the above criteria is sufficient for the diagnosis of distal arthrogryposis.
A classification and main characteristics of individual types of DA are presented in Table I. These are a separate class of genetically mediated congenital congenitz, characterized by the presence of pterygia: Skin webs may also be found in lateral portions of the neck, and be accompanied by cleft palate or lip, syndactyly or atypical fingerprints.
Many variations have been described with varying inheritance patterns of clinical features including autosomal dominant or recessive, e. Neck webs are evident at birth but are not always severe. Clinically the Escobar syndrome is characterized by facial dysmorphism, neck bucco-sternal webs, and hand contractures. With age, the neck webs may increase in size; the neck mobility is limited due to concomitant congenital vertebral malformations.
The lumbar lordosis increases with age as well; in adolescence, lumbar lordosis and popliteal and cubital webs increase in size. The inheritance pattern is autosomal recessive, sometimes autosomal dominant; the syndrome may be associated with mental retardation. The lethal multiple pterygium syndrome is autosomal recessive; features include severe contractures, hypertelorism, cervical pterygia, narrow chest, and hypoplastic lungs.
The autosomal recessive multiple pterygium syndrome is characterized by palatoschisis, scoliosis, and malignant hyperthermia during general anesthesia. Sometimes the pterygium syndrome is limited to e.
The clinical features of Larsen syndrome may include multiple contractures, most commonly in the form of talipes equinovarus. The dominant features are hypermobility and congenital dislocations of multiple joints: Cervical spine instability and kyphosis may be present, leading to potentially life-threatening cervical cord injuries; other features include: Mental development is usually normal [ 85 — 89 ].
Extremely rare, autosomal recessive form of arthrogryposis, with combined clinical features of osteogenesis imperfecta and congenital contractures; this disease was historically described by Alfred Bruck in ; a modern description has been presented by Viljoen et al. The principal treatment goal in arthrogryposis is optimization of quality of life: In order to achieve these goals, management must be initiated as early as possible, and optimally in the neonate and infant; this should be directed at improvement of motion in any affected joints, improvement of active motion by strengthening any functional muscles, as the limb function in arthrogryposis depends on the capability to move the limb actively, and finally correction of fixed deformities that affect activities of daily living [ 91 ].
This comprehensive approach is based on a triad of treatment tools: In a study on the quality of life in adults with arthrogryposis, Fassier et al. However, the parents of a child with arthrogryposis often place the greatest importance on independent ambulation and concentrate their attention on this ability in the treatment program [ 95 ].
It is therefore extremely important that the treatment plan and its objectives — both immediate and long-term — be communicated to both the patient and the parents; such education should be then repeated and reinforced at every consecutive treatment stage. Owing to the above reasons, the treatment program of the arthrogrypotic child should be individually tailored for each patient as holistic and realistic, and optimally should involve a therapeutic team including a pediatrician, an orthopedic surgeon specializing in surgical corrections in upper and lower limbs as well as spine, a geneticist, a physiotherapist, an orthotic technician, and a psychologist; the team should have expertise in the treatment of patients of different age groups and with different degrees of disease severity; the team also must have the appropriate diagnostic and therapeutic armamentarium at their disposal [ 58 ].
The upper limb should be considered a functional unit. The ultimate goal of treatment is restoration of personal care of the patient and the use of communication devices e.
Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies
Similarly as in the lower limbs, initiation of conservative treatment of upper limb contractures in the neonatal and early childhood period is of paramount importance. The shoulder joint rarely requires surgical treatment; a subcapital derotation osteotomy of the humerus can be beneficial, usually in severe internal rotation contractures [ 97 ]. The correction of passive range of motion in the elbow involves exercises, manipulations and surgical procedures: In the absence of active elbow flexion, with maintained passive motion, restoration of active flexion may be considered by means of muscle transfers, thus replacing the action of a less functional muscle with a more useful one — most commonly, the triceps tendon as a whole or the long head only is transferred onto the biceps tendon or its remnant; other options include the latissimus dorsi, pectoralis major, and sternocleidomastoid transfers .
There are reports of successful pedicled gracilis transfer in 2 arthrogryposis patients [ ]. All these methods are burdened with complication risks, e.
Severe palmar flexion wrist contractures require surgical soft tissue releases on the palmar side or wedge bone resections in the distal radius or wrist arthrodesis. In flexion contractures not amenable to passive correction, an option is transferring the flexor to extensor tendons [ ].
Indications for these procedures should also be carefully considered as some patients retain satisfactory function despite the presence of flexion wrist contractures [ ].