Arthrogryposis in children and adolescents: effective treatment methods in the Russian Federation

What is arthrogryposis?

Arthrogryposis is a congenital disease of the musculoskeletal system, which is manifested by joint contractures, muscle underdevelopment and damage to the spinal cord. Contracture is a restriction of passive movements in a joint, which, depending on the location, leads to impaired self-care or movement of the patient. Arthrogryposis is a non-progressive disease, and therefore early treatment allows in most cases to help the child and restore the ability to move and self-care. This pathology occurs in 1 child out of 3000 newborns.

The most common is congenital arthrogryposis multiplex (a non-hereditary disease) in several forms: generalized, with damage to the upper or lower extremities. The distal form (about 20 types) is observed much less frequently, characterized by predominant damage to the hands and feet, and anomalies of the maxillofacial region. This disease is hereditary, and therefore the patient and his parents must undergo medical and genetic counseling to determine the prognosis for the patient, as well as the risk of re-birth in the family of a child with an identical pathology.

What are the complications of AUB in children?

Decreased muscle tone sometimes covers the face and becomes mask-like, as well as malocclusions and small jaws (micrognathia).
In addition to musculoarticular symptoms, a child with arthrogryposis may develop defects of internal organs, malformations of the central nervous system, cleft palate, or pulmonary hypoplasia. In the future, due to the existing stiffness of the joints, the child may develop scoliosis, pelvic displacement, or other deformities in the musculoskeletal system. In addition, children with AMC are shorter and lighter than their peers. Arthrogryposis is accompanied by a genetic disorder called Beals syndrome.

Arthrogryposis in a newborn - diagnosis and treatment

At birth, the child is diagnosed with arthritis. Specialists conduct a thorough family history and collect information about the course of pregnancy and the mother’s health. Arthrogryposis can also be diagnosed in the last weeks of pregnancy through careful observation during ultrasound and assessment of the baby's mobility.

Further evaluation of the newborn includes assessment of joint movements, assessment of muscle strength and tendon reflexes, examination of surface sensation, and identification of other deformities in the musculoskeletal system.

Treatment of arthrogryposis is symptomatic and complex, and its most important element is early and systematic rehabilitation. Surgical procedures to correct muscle contractures should be considered. It happens that only after multiple operations on the same joint does it find itself in a physiological situation or is subsequently corrected by physiotherapy.

The treatment also includes: pharmacotherapy, plastering and orthopedic equipment. Parents of the baby should seek help from a psychologist or join a support group for people with similar problems. In subsequent years of the life of a child with arthrogryposis, the help of a speech therapist, child psychologist, or occupational therapist may be indicated, and an individual course of training may be required. This is a childhood disease. Arthrogryposis does not occur in adults; we can talk about the consequences and complications of poor treatment in the neonatal and infant periods.

Causes and mechanism of development

There are about 400 causes of arthrogryposis, but the underlying factor is unknown. The following factors may contribute to its appearance:

• bacterial and viral infections;
• hazardous production;
• ionizing radiation;
• medications;
• pregnancy pathologies (severe toxicosis, polyhydramnios, oligohydramnios, placental insufficiency);
• abnormalities in the shape of the uterus, due to which there is not enough space for the fetus;
• miscarriages, abortions in the pregnant woman's history;
• severe diseases of women (diabetes mellitus, systemic lupus erythematosus);
• bad habits (smoking, alcoholism, drug addiction).

Exposure to pathogenic factors leads to disruption of fetal movements during intrauterine development, which leads to the formation of joint contractures.

The clinical picture depends on the type of arthrogryposis.

Tests and diagnostics

During the examination, patients are found to have smoothing of the contours of the joints, muscle relief, and limited mobility of the affected joints, characteristic of arthrogryposis.

Morphological studies demonstrate a picture of severe muscle lesions and developed fibrous dystrophy.

An accurate diagnosis can only be made in the perinatal period due to its typical appearance. However, thanks to modern ultrasound, it is possible to detect soft tissue atrophy and deformation of the joints of the limbs. Also, indirect signs of pathology include low fetal mobility.

Symptoms of the disease

The pathology is manifested by multiple congenital contractures of the joints of the limbs, scoliosis, muscle wasting or atrophy.

As a rule, all contractures are most often symmetrical. The mental development of children with arthrogryposis is usually preserved. With timely initiation of treatment, children can attend kindergartens, study in regular schools and subsequently receive secondary specialized or higher education.

Classification

There are mild, moderate and severe forms of arthrogryposis. Mild cases are characterized by rare cases of involvement of one or two limbs.

Arthrogryposis occurs most often in the classical (generalized) form and isolated, affecting the lower and/or upper extremities. A separate group of diseases is the distal form of arthrogryposis. Characteristic features include the presence of congenital multiple contractures and deformities of the hands, feet, as well as facial anomalies. The type of transmission of the disease in this form is hereditary. At least 9 varieties of distal arthrogryposis are known in the form of digitotal dysmorphism, Freeman-Sheldon syndrome, Gordon syndrome, trismus pseudocamptodactyly, pterygium syndrome and congenital arachnodactyly .

Contractures of the limbs in severe arthrogryposis

Joint contractures can be different - flexion and extension, adduction and abduction, and also in a combination of different forms. The condition of the limbs can be complicated by dislocations of the hips.

Prenatal diagnosis

It is recommended to do an ultrasound from the 12th week of pregnancy. Early ultrasound diagnosis of arthrogryposis is difficult. Before the 24th week of pregnancy, this disease is diagnosed only in 25% of cases. The main diagnostic signs of arthrogryposis at 12 weeks of pregnancy:

• restriction of fetal motor activity,
• deformities of the limbs and skeleton.

If developmental defects are suspected, an MRI of the fetus is performed after 17-18 weeks of pregnancy. Most often, SMA is diagnosed at the end of the second - in the third trimester of pregnancy.

Symptoms

Arthrogryposis is usually characterized by local symptoms, including the following lesions and contractures of the limbs (impaired mobility):

• extension of the arms at the elbow joints;
• tightness of the arms to the body and club-handedness;
• tightness of the hands and fingers;
• violation of grasping functions;
• abduction of the lower extremities in the hip joints;
• extension of the knees;
• deformity of the feet, usually deformed towards clubfoot;
• hip dislocations.

Symptoms of arthrogryposis

Characteristics of appearance in arthrogryposis

• the shape of the body is disproportionately elongated in relation to the deformed and underdeveloped limbs;
• narrow shoulders that lack muscle relief and have a beveled obtuse angle;
• the neck is wide with narrow shoulder girdles and massive folds - pterygia (pterygia);
• amniotic bands;
• skin syndactyly on the fingers;
• skin retractions over pathological joints;
• telangiectasia;
• hemangiomas of various localizations.

The onset of the disease is characterized by the appearance of fibrous and then developing bone contractures with the installation of the limbs in the form of an external turn and full arching, with deformation of the feet (equinovarus or planovalgus), hands, which are forced to be bent in the palms, while the fingers are bent. In some cases, dislocations and subluxations may be detected, which most often affect the hips and cause aplasia and hypoplasia of the patella. For this pathology, it is not uncommon to identify other developmental defects in the absence of systemic lesions of internal organs and preserved intelligence.

Treatment of arthrogryposis in Russia - advanced methods

It is recommended to carry out treatment aimed not only at eliminating existing limb deformities, but also at improving the child’s overall motor activity. During the first year of a child's life, it is extremely important to develop his basic motor skills (for example, rolling over, crawling, etc.). The management of children diagnosed with SMA should be interdisciplinary, with the participation of an orthopedist-traumatologist, a neurologist, a rehabilitation specialist, a geneticist, a medical psychologist, a social educator, and a prosthetist. Treatment programs must be sufficiently aggressive to allow patients to realize their full rehabilitation potential. If the child’s physical condition is stable, conservative treatment can already be started in the first week of the child’s life in a hospital or at home.

The goal of treatment is to improve passive and active joint movements and eliminate limb deformities. Conservative treatment for children in the first year of life includes plaster correction of limb deformities, exercise therapy, massage, thermal procedures, electrical muscle stimulation, and spinal cord stimulation. Surgical treatment is indicated at the age of 5-6 months in the absence of effect from conservative treatment (elimination of contractures by performing interventions on bones, joints, soft tissues; restoration of active movements in joints by microsurgical transplantation of various muscle groups; elimination of dislocations in joints, etc. ).

Patients with arthrogryposis are prescribed technical means of rehabilitation (TSR) (crutches, wheelchairs, handrails, devices for dressing, undressing, grasping objects, etc.), which provides the patient with the opportunity for self-care and movement, as well as prosthetic and orthopedic products ( splints, walking aids, orthopedic shoes), which helps prevent recurrence of deformity as the patient grows.

Arthrogryposis - rehabilitation

Therapy begins with correct positioning of the newborn, lifting and carrying, correct positioning during feeding and gentle and proper care.
Appropriate physical therapy should be started as soon as possible, but no later than 1 year of age. Its goal is to normalize muscle tone and stretch soft tissues, eliminate muscle contractures and improve the mobility of stiff joints. This can be achieved through appropriate stretching positions, corrections and special techniques (PNF, Vojta, NDT Bobath) supported by plastering and orthopedic equipment in the form of weights, orthoses and stabilizers.

In addition to reducing joint stiffness, you should also improve the strength of weakened muscles, improve core stabilization and coordination, and ensure your child's body posture is correct, including through the use of appropriate exercises.

If it is difficult to reduce or eliminate joint contractures, a good physical therapist, thanks to knowledge of biomechanics, muscle physiology and neuromuscular coordination, will build such compensation for the child that he can master the following motor skills. Therapy can be supplemented with physiotherapeutic procedures (especially thermal procedures, hydrotherapy, electrical stimulation, lamp irradiation), water therapy or taping.

Forecast

The prognosis for a patient with arthrogryposis depends on the form of the disease, the nature of the deformities and their severity, as well as the presence of concomitant pathology, and can range from unfavorable for life to minimal orthopedic impairment.

• 10% of children are stillborn, 27% die during the first months of life.
• In 7% of patients, a very severe form of the disease is observed, which has little prospect for treatment.
• Most patients with this pathology have significant potential for walking in adulthood.

The ability to walk independently or move with the use of assistive devices in adult patients is 49-88%, but some of them lose the ability to walk over time, which in some cases is associated with weight gain with age.

15-50% of patients have good function of the upper extremities, fully care for themselves and are independent in everyday life.

Pathogenesis

With arthrogryposis, severe muscle aplasia develops due to severe lesions of muscle tissue such as fibrous dystrophy, and all joints of the limbs are also affected. Atrophic or hypotrophic changes in muscles are observed from birth. Presumably, they are associated with the teratogenic effects of factors that disrupt the formation (histogenesis) of muscle fibers in the first semester of gestation, which causes future pathological changes in them. In this case, the normal development of the ligamentous-capsular structure of the joints “stops,” which causes further degeneration and impairment of functional abilities. While muscle disorders are caused by changes in the spinal cord (degeneration of anterior horn cells), dysplasia and degeneration of muscle tissue.

Lesions of the upper extremities lead to intrarotation-adduction contractures in the shoulder joints, extension contractures of the elbow joints, flexion contractures of the wrist joints against the background of ulnar deviation of the hand and flexion-adduction contracture of the first finger.

Limb contractures are caused by impaired tone, muscle degeneration, abnormal location of their attachment points, shortening of the bursal-ligamentous apparatus, depression of adjacent joint structures and slower growth of tubular bones.

Pathological anatomy

Macroscopically, thickened, low-elastic skin and poorly mobile, also thickened, subcutaneous tissue with numerous strands of connective tissue are determined. The muscles are pale, underdeveloped, atrophic, and often fused together. Some of them are missing completely or partially. When cut during surgery, the muscles contract weakly or not at all. Some of them are fibrously degenerated and retracted, others are flaccid and replaced by adipose tissue. The gliding apparatus is often obliterated. The tendons are thin and dull, often fused to each other and to the surrounding tissues.

The joint capsules are fibrously thickened, difficult to stretch, and the inversions are fused to the bone. There is little synovial fluid. Synechiae are often observed between the cartilaginous surfaces of the articular ends and the capsule. The ligaments are low elastic. The articular ends are rounded, many of them are not completely covered with cartilage. The sockets of the joints are flattened. Dislocations and subluxations or incorrect orientation of the articular ends are often observed. There are no bone ankylosis. Individual bones, such as the radius, may be completely or partially absent.

Histologically, the muscle fibrils appear delicate and thin, 2–5 mm thick. Some of them retain their longitudinal and transverse striations, others lose them, acquiring a homogenized appearance. There are few nuclei in the sarcolemma. Muscles can be represented only by individual underdeveloped fibrils. Connective and adipose tissue grows between the fibrils. In some areas, the breakdown of muscle fibers or Zenker degeneration is noted. The articular cartilage is thinned.

On the part of the brain, in some cases, proliferation of glial tissue and degenerative changes in ganglion cells in the area of ​​the motor centers of the cerebral hemispheres are detected. The same changes can be observed in the ganglion cells of the anterior horns of the spinal cord. Atrophic phenomena are possible in peripheral nerves. It should be pointed out that the data from pathological and histological studies in arthrogryposis are often contradictory.

How does arthrogryposis develop?

The pathogenesis of the disease also has several theories.

Arthrogenic theory

At a certain stage of fetal life, due to the possible reasons mentioned above, the development of the capsular-ligamentous apparatus of the joints stops. This gradually causes atrophy of the surrounding muscles. The so-called secondary myodegeneration occurs.

Myogenic theory

The main difference from the previous theory is that degeneration in the muscles is not secondary, but primary, that is, the muscles are first affected, and then the underlying joints and motor centers of the spinal cord.

Neurogenic theory

Confirmation of this theory is determined by a number of diagnostic studies, in which in a large number of cases cyst-like formations were found in the anterior horns of the spinal cord. It is these formations, as a number of authors believe, that can cause damage to the motor neurons of the anterior horns of the spinal cord and the subsequent deinervation atrophic process in their segmental muscles.

What it is

The disease is somewhat more common in boys, but their predominance is insignificant. Children suffering from arthrogryposis are born from both the first and subsequent pregnancies. The disease is more common in first-born children. The age of the parents does not seem to be of decisive importance.

During the first weeks of pregnancy, mothers often have a history of inflammatory or general infectious diseases, early toxicosis, threatened abortions, hypertension, hyperthyroidism, as well as previous multiple induced abortions, miscarriages, endometritis, etc. Almost all mothers indicate late fetal movement. Fetal movements can be very weak: sometimes they are absent, which gives reason to consider the fetus dead. Pregnancy often occurs with a lack of amniotic fluid. Childbirth is often dry, difficult, requiring obstetric assistance due to weak labor or incorrect position. This is why bone fractures sometimes occur.

The essence of arthrogryposis lies in more or less widespread tissue damage to the motor block with the development of multiple contractures, joint deformities and significant limitation of movements in them.

Diet for arthrogryposis

Diet for sore joints

• Efficacy: therapeutic effect after 2-3 months
• Terms: 2-6 months
• Cost of products: 1700-1800 rubles. in Week

Children with arthrogryposis require the most balanced and rational diet, taking into account their needs for nutritional components and calorie content. At the same time, it is important that the diet is as rich in vitamins and varied as possible, and is also age-appropriate. The diet should be based on:

• porridge;
• vegetables and herbs;
• fruits;
• Fish and seafood;
• dietary meat;
• eggs;
• dairy products;
• natural vegetable oils, seeds and nuts.

“In maternity hospitals, parents are offered to abandon a child diagnosed with arthrogryposis”

In Russia, unlike Europe, there are no self-help societies that unite people suffering from arthrogryposis and where one can find information about this disease, and doctors from the Russian hinterland are accustomed to the idea that it is incurable. How and where arthrogryposis is treated, Olga Agranovich, MD, PhD, leading researcher, head of the arthrogryposis department at the Research Institute of Children's Orthopedics and Traumatology, tells Doctor Peter. Turner.

— Olga Evgenievna, why don’t doctors in other regions refer patients with arthrogryposis to you for treatment?

— Because, indeed, previously in our country such children were considered hopeless and did not receive treatment. Unfortunately, the regions still do not know that these children can and should be treated. Moreover, often in maternity hospitals, parents who have a child diagnosed with arthrogryposis are advised to abandon it. These children end up in orphanages, and there is no one there to care for them. Children from orphanages are rarely brought for treatment, and if they are, then after surgery with the deformities of the upper and lower extremities eliminated, they return back to the orphanage, where there is no one to provide the necessary conservative treatment and rehabilitation. And this is the most important component of therapy. As a result, children are brought back with recurrent deformities, requiring repeated and often more complex surgery.

(How children’s fingers are transplanted from their toes to their hands at the Turner Institute, find out here)

Until recently, the Turner Institute provided assistance to such patients little by little, but in the process of work we realized that there are many in need. It was decided to open a specialized department; in the first two years of its existence, we treated about 300 patients. And this is clearly not everyone who needs treatment. Although now doctors have begun to receive more information, sometimes documents are received from maternity hospitals and from the parents themselves even for children with arthrogryposis in the first days of life, and this is already a big plus.

— As part of the economic forum, there was a concert, one of the presenters of which was your patient, Vanya, he was from an orphanage. Are they working with him?

“Fortunately, they are working with Vanya.” He came to us at the age of 6, when he already had very severe deformities, and he could only lie down and crawl with difficulty, could not eat or drink himself, or minimally serve himself. Several operations have already been performed on him - they put him on his feet, at least in the apparatus, but he walks, eats himself, writes, brushes his teeth, washes himself... If he had come to us earlier, the results of the treatment would have been better.

We already have “our” children, for whom treatment was started in the first weeks and months of life and they now go to regular kindergartens and secondary schools, and outsiders have no idea that the child had such serious problems with the musculoskeletal system.

— How many children are born with a diagnosis of “arthrogryposis”?

— According to statistics, 1 in 3 thousand newborns. In Europe and America it is even less, because in most countries this pathology is an indication for termination of pregnancy; it is detected at the 16th week. We have problems with perinatal diagnostics. Therefore, more children are born with arthrogryposis, and over the years of working with them we have accumulated the greatest experience, which is not found in any other country. In this regard, St. Petersburg was chosen as the country to host the World Symposium on Arthrogryposis in 2014.

— How does this disease manifest itself?

— Arthrogryposis translated from Greek means crooked joint (arthron - joint + gryposis - curvature). This is a congenital pathology in which multiple deformations of the musculoskeletal system are formed - contracture of the arms and legs, muscle hypotonia (decreased tone) or atony (lack of tone), due to which children, as a rule, cannot walk or care for themselves. Often, due to the lack of muscles, a child cannot bend either an arm or a leg, because the muscles were not even laid down at the stage of fetal formation or are in a state of degeneration (fatty, fibrous tissue).

Arthrogryposis can be generalized (the most common when the arms, legs, and spine are affected), affecting the arms and legs, as well as distal (predominantly affecting the hands or feet). Our task is to help children adapt socially, restore motor functions, so that they can live like everyone else.

— Is there any way to prevent the development of arthrogryposis?

— Until the cause of its development is clearly identified, there is no prevention. In the medical literature, up to 300 reasons have already been named that determine the development of arthrogryposis. This means that no clear, unambiguous cause has ever been found.

Viral and bacterial infections, exposure to physical factors, chemicals, taking medications during pregnancy, limitation of the intrauterine space (abnormalities in the shape of the uterus), placental insufficiency, polyhydramnios, etc. are suspected in the development of this disease. It is also known that in 5% of cases arthrogryposis is inherited.

— A group of doctors in your department received the most prestigious medical award in the country - “Calling” for the treatment method you created. What is it?

— This is a system of comprehensive rehabilitation of children with arthrogryposis, which includes conservative treatment as preparation for surgery (physiotherapy, exercise therapy, plaster correction of deformity) and surgical techniques, including muscle transplantation to restore active movements in the joints. That is, first conservative treatment is carried out, then, if necessary, surgery, then rehabilitation, including with the help of the Lokomat (learning to walk) and Armeo robotic systems (restoration of hand function). Then patients with our recommendations for rehabilitation go home, and after a few months they are admitted to the department again, because most of them require multi-stage treatment.

Previously, many deformities were treated only surgically, but now often, when treatment is started very early, we can cope without surgery. If the deformity is eliminated, for example, the arm is straightened using conservative methods, but the child cannot bend it because there are no muscles, we do a muscle transplant so that it “works” and the child can serve himself.

Previously, we took children of preschool and school age for treatment, when it was already difficult to help them, but when we began to accept children under one year old, we received fundamentally different results: early initiation of conservative treatment for mild forms of the disease allows us to completely eliminate deformities without surgical interventions. We currently accept children from the age of three months for treatment, and over time we plan to further reduce the age at which inpatient treatment begins. Because the earlier we start it, the more actively and patiently the parents work with the child, the greater the chance of success, regardless of the severity of the deformities.

© DoctorPeter

Treatment

Conservative treatment is carried out throughout the first 10 years of life. If arthrogyposis is treated regularly, a significant improvement in limb movements can be achieved, and in mild forms, excellent results can be achieved.

It is important to achieve a functionally advantageous position of the limb segments using conservative methods, using staged plaster casts or the Volkov-Oganesyan wire apparatus, or even the Ilizarov apparatus in adolescents. But keeping limb segments in a corrected position is possible only by improving the functions of underdeveloped muscles, which is a difficult task. At the Institute.

The trainer assessed muscle strength in arthrogryposis using a five-point system, which is used when assessing the consequences of polio. This makes it possible, to a certain extent, to objectively assess muscle strength over time, during the treatment process. Mild equinovarus foot deformity can sometimes be corrected with early conservative treatment, but the feet must be supported in a corrected position at night with splints and during the day with orthopedic shoes.

What are the causes of arthrogryposis?

Today, there are more than a hundred reasons that contribute to the onset of this disease. Equally numerous theories of the development of the disease are based on these numerous reasons:

Mechanical theory

As the name implies, the main pathogenetic factor in this theory is the mechanical effect on the developing fetus.

What impacts might there be?

• amniotic pressure that occurs when amniotic fluid decreases;
• increase in amniotic fluid;
• pathological position of the fetus;
• physical trauma, etc.

Such effects, according to some authors, can impede the blood supply to the fetal extremities. This can ultimately severely deform them.

Vascular theory

The cause of the pathological process is a vascular pathology of unknown etiology, which also impairs the blood circulation of the extremities.

Infection theory

Joint deformation, according to supporters of this theory, arises from infectious periarthritis suffered by a child in the prenatal period. The cause is an infectious disease of the mother during the 4th–5th week of her pregnancy.

Diseases of particular risk include influenza and rubella.

A subsection of this theory includes the opinion about the possible influence on the fetus earlier, long before the pregnancy itself, of a disease suffered by a parent, which could cause “inferiority” of its parental zygote.

Toxic theory

The cause of the disease may be the toxic effect on the fetus of medicinal or narcotic substances taken during pregnancy.

Toxicoses of pregnant women also have a pathogenic effect.

Hereditary theory

The hereditary theory was considered refuted, but there were cases where the disease manifested itself in two or even three twins at once. It has now been proven that of all the pathologies of arthrogryposis, hereditary forms account for 27% of cases. The mode of inheritance is assumed to be autosomal dominant and X-linked autosomal recessive. Thus, only distal forms of the disease are able to manifest themselves. In all other cases, the disease is sporadic.

Theory of oxygen starvation

Here, the main reason for the formation of the disease is considered to be a lack of oxygen saturation of fetal tissues, which explains the subsequent formation of muscle atrophy and their fibrous and fatty degeneration.