To date, more than a hundred reasons have been named that contribute to the formation of the disease, but the main one is not highlighted. It is reliably known that arthrogryposis develops at 4-5 weeks of intrauterine development and is not inherited (except for the distal form).
Possible causative factors include the following:
- Teratogenic. They have a destructive effect on the emerging structures of the fetus. This group includes the use of pregnant drugs, alcoholic beverages and certain drugs (for example, cytostatics), ionizing radiation, toxic chemicals, infectious diseases (rubella, cytomegalovirus infection, toxoplasmosis) and others.
- Maternal. Associated with the features of the maternal organism. They include anomalies of the anatomical structure of the uterus (duplicity, doubling, hypoplasia), placental insufficiency, the presence of severe chronic diseases (systemic lupus erythematosus, diabetes, decompensated heart defects) and others.
- Oligohydramnion. At the present stage, many authors take little water for the basic version of the development of arthrogryposis. A small amount of amniotic fluid causes the absence of normal fetal movements, as a result of which the joints are fixed in a certain forced position
The pathogenetic mechanisms of arthrogryposis are not fully understood. There are several opinions on this point. Myogenic theory suggests a primary degenerative lesion of muscle structures with a further change in the joint-ligamentous complex and various parts of the nervous system.
The neurogenic hypothesis suggests that in the prenatal period, due to the impact of a combination of causal factors, damage occurs to the motor pathways of the spinal cord, and then the formation of disturbances in the zones innervated by them. The arthrogenic version links congenital contractures with the initial involvement of the capsule-ligament apparatus in the pathological complex, atrophy of the surrounding muscles and secondary myodegeneration.
Pathologic dissection indicates the presence of changes in the muscles of a hypoplastic nature. Their physiological attachment points are preserved, but the fibers themselves are atypically located due to the forced location of the limb. The capsular apparatus with arthrogryposis keeps the surfaces of the joints in tight contact, the ligamentous structures are shortened. The tubular bones are underdeveloped, atrophic. Degenerative processes are present in almost every part of the nervous system.
Classification of arthrogryposis in a child
According to the number of affected joints and on the basis of the general condition of the patient, arthrogryposis is classified into degrees of severity – mild, moderate, and severe. Separately, there are types of contractures that are abduction, rotational, extensor, adductor, flexor, and combined.
The international classification implies the division of the disease into the following forms:
- Generalized. It occurs in 54% of cases. The disease can affect absolutely all groups of joints, including such rare localizations as temporomandibular, sterno-acromial, sternoclavicular.
- Damage to the lower limbs. It is 30% of the total pathology. Lesions seize the joints of the foot, as well as the hip, ankle, knee.
- With damage to the upper limbs. Observed in 5% of cases. More often affects the wrist, elbow joints and joints of the hands.
- Distal. The number of sick children reaches 11%. It has about 9 subspecies, among which are digital dysmorphism, congenital arachnodactyly and Gordon’s syndromes, multiple pterygiums, Freeman-Sheldon, Trismus-pseudocamptodactylia, etc.
Symptoms of arthrogryposis in a child
The characteristic symptoms consist of the presence of contractures, which are congenital, and muscular atrophy or malnutrition, giving the patient a lot of inconvenience. Arthrogriposis lesions are symmetrical and not prone to progression, only recurrence of deformities after the initial successful treatment is possible. In many cases, the disease captures the upper parts of the body. A typical picture is that the hands are folded and rotated inwards, the forearms are pierced, the elbows are unbent, the hands are bent towards the palms. Damage to the lower limbs often occurs with clubfoot and subluxation of the hip joints.
Arthrogryposis is also combined with more rare manifestations – skin syndactyly (adhesions) of the fingers, amniotic banners, hemangiomas and telangiectasias, skin retracts over damaged joints, cleft palates, heart defects and meningomyellocele. In 10% of cases, combined vascular malformations located in the brain or spinal cord are detected. Patients are subject to frequent respiratory diseases. An important and positive feature is the presence of age-appropriate mental abilities and the absence of organ disorders.
Arthrogriposis carries no immediate threat to life. Complications are more common in the absence of adequate or delayed treatment. But even with a successful treatment, it is possible that a positive dynamic may not be achieved. The preservation of contractures prevents the child from performing the simplest movements. Serious complications are the complete immobilization of damaged joints and irreversible deformity of the limbs. In severe cases, there are also damage to the growth zones of the bones and secondary lesion of the epiphyses.
Diagnosis of arthrogryposis in a child
Arthrogryposis is usually detected during routine ultrasound screening. On echography in the fetus recorded mobility, a decrease in the soft tissues of the limbs in volume and the development of contractures. After birth, the examination is performed in conjunction with a pediatric neurologist, orthopedic surgeon or surgeon. Diagnostic criteria are the presence of contractures of more than three large articular surfaces (hand or foot are considered as 1 large joint), instrumentally confirmed lesions of spinal cord motoneurons and muscle atrophy.
To clarify the correctness of the diagnosis, the following groups of methods are used:
- Visualizing As diagnostics of the first line, radiography of the modified joints is performed. With it, you can identify the underdevelopment of apophyses, osteoporosis and impaired skeletal differentiation processes. CT or MRI are used in controversial cases and can detect the slightest changes in the articular surfaces.
- Neurophysiological. Electroneuromyography (ENMG) is used to identify neuromuscular conduction disorders. It is necessary to confirm the damage to the spinal cord. Electroencephalography (EEG) is used to record the activity of nerve cells of the central nervous system. Less commonly, diagnostics include EEG monitoring, which allows monitoring of brain activity throughout the day.
The differential diagnosis is carried out with the consequences of poliomyelitis, diastrophic dysplasia, Larsen syndrome, chondrodystrophy, spinal amyotrophy, myotonic dystrophy. For the final diagnosis, you may need the help of an infectious diseases specialist, cardiologist and rheumatologist.
Treatment of arthrogryposis in a child
Therapeutic measures begin from the first day after birth, since the result of the correction during this period is the most stable. Until the age of 2-3 years, conservative methods are preferable. They consist in carrying out a staged plaster correction carried out weekly. Before each manipulation, thermal, physiotherapeutic procedures and therapeutic exercises are performed.
From physiotherapy, photochromotherapy, electrophoresis with prozerin, trental, sulfur and calcium, phonophoresis with keratolytic gels and electrical stimulation are used. Parents are obliged to explain the importance of corrective exercises for arthrogryposis, which are performed up to 8 times a day. Orthopedic therapy is always complemented by neurological, including drugs that increase blood flow, increase conductivity and normalize tissue trophism.
In case of negative dynamics, surgical intervention is used. In difficult situations, it starts from 3 months, but in most cases, patients under 2 years old are conservatively treated. Correction is initially carried out on distal sites. Depending on the location, it is possible to perform myotenoligamenthocapsulomomy, epicondyle osteotomy, lengthening of the quadriceps. If arthrogrypotic clubfoot has occurred, then surgical operations are recommended on the ligamentous-tendon apparatus (children under 7 years of age) or on the skeleton of the foot (in the older age group).
In arthrogryposis of the upper extremities, operations are performed to shorten and lengthen the muscles of the forearm, as well as the capsulotomy of the wrist joint from the palm side. In adolescents, allodez by lavsan tape or arthrodesis is used as operations on this joint. With extensor contracture of the elbow joint, the tendon of the triceps is extended, transplanted, and posterior capsulotomy performed. When dislocations occur, their closed reposition is carried out only with intact muscle strength. Operations on the lower extremities are maximally focused on preserving the support-static functional activity, on the upper ones – on creating conditions that are important for self-service.
Arthrogryposis is a congenital disease of the musculoskeletal system, which is characterized by the formation of contractures of many joints, damage to the neurons of the spinal cord with primary atrophy of muscle structures. The clinical picture is made up of deformity of the articular surfaces with limited range of motion, muscle hypotension, with the preservation in children of a normal level of intelligence and the absence of damage to internal organs. To clarify the diagnosis using radiography, CT and MRI. Treatment involves the immobilization of the affected joints in a functional position advantageous to them, physical therapy, in severe cases – the use of surgical techniques.
For the first time, pathology was described in detail in 1927 by the domestic surgeon E. Yu. Osten-Sacken, but the term “arthrogryposis” itself was suggested by an American orthopedic surgeon M. Stern in 1923. Literally, the name of the disease translates as “curved joint.” In pediatrics, it occurs with a frequency of 1: 3000 to 1: 56000 newborns; incidence is the same among both sexes.
Arthrogryposis, or multiple congenital contracture syndrome, is usually detected prenatally as part of an ultrasound screening of the fetus or on the first day after birth, when examined by a neonatologist during a newborn examination. In order to prevent the disabling effects of the disease, children from an early age need intensive physical rehabilitation.