Arthrogryposis multiplex congenita is (AMC) characterized by congenital contracture of single or multiple joints. In this case, there is an inconsistent clinical picture. The disease is not curable, but it is also not progressive.
What is arthrogryposis multiplex congenita?
The main feature of arthrogryposis multiplex congenita is congenital joint stiffness of various joints of varying degrees. Arthrogryposis multiplex congenita is a collective term for conditions with various causes that occur before birth. In the past, the condition was also called Guérin-Stern syndrome. AMC is classified into several types:
- In type 1, only the extremities are involved. At the same time, type 1 is further divided into two subgroups, type 1a and type 1b. In type 1a, only the hands and feet are mainly affected by the contractures. If all extremities including shoulders and hip joints are stiffened, it is called type 1b.
- In arthrogryposis multiplex congenita type 2, in addition to the joint stiffening, several organs are malformed. This affects, for example, the abdominal wall, the urinary bladder, the spine or the head.
- Type 3, in addition to the malformations already mentioned, is still characterized by the most severe impairments of the spine and nervous system.
Causes
The causes of arthrogryposis multiplex congenita are diverse. Among them, the disease is the result of prenatal processes. In some cases, a genetic influence is suspected. For example, a point mutation at the ZC4H2 gene (zinc finger gene) has been identified in certain forms of AMC. This gene is responsible for the synthesis of zinc finger proteins, which interact with DNA or RNA by means of zinc atoms and can thus control protein synthesis processes.
protein synthesis processes. Other prenatal influences involve viruses or toxins that damage the muscles or the nerve tissue that stimulates the muscles. As a result, the musculature cannot be laid down properly. The amount of connective tissue in the muscles and joint capsule is too high, so the length growth of the cords is impaired. This leads to deformation in the affected parts of the body, as a result of which mobility is severely restricted. During pregnancy, the lack of child movement is already noticeable. The extent to which this lack of mobility is a consequence or, in part, a cause of the lack of muscle development remains to be clarified. In any case, arthrogryposis multiplex congenita is multifactorial.
Symptoms, complaints, and signs
Arthrogryposis multiplex congenita manifests in a multifaceted and often complex appearance. In 11 percent of cases, only the arms are affected. Another 43 percent of patients have stiffened leg joints only. All four extremities are affected in 46 percent of those affected. The joint restrictions increase significantly towards the hands and feet. Often, the trunk muscles still have good mobility. Other physical and mental development is usually normal. Regardless of the number of affected joints, however, other organs may be affected. In the extreme case of type 3 arthrogryposis multiplex congenita, the most severe malformations involving the nervous system are present.
Diagnosis
Various imaging procedures are performed to diagnose arthrogryposis multiplex congenita. For example, radiographic examinations provide good visualization of dysplasia and dislocation. Magnetic resonance imaging and a muscle biopsy reveal structural abnormalities in the musculature. Electromyography (EMG) can be used as a differential diagnosis to exclude myogenic disease as a cause.
Complications
Arthrogryposis multiplex congenita presents with a variety of complications and symptoms. In most cases, the arms and legs are affected and exhibit relatively severe stiffening of the joints. Likewise, the stiffening also occurs in the feet and hands and can lead to significant movement restrictions of the patient. The everyday life of the affected person is considerably restricted by arthrogryposis multiplex congenita. Furthermore, no complications occur, the disease also does not progress and does not hinder the further development of the patient. Likewise, there is no negative influence on the mental development of the affected person.In some cases, however, arthrogryposis multiplex congenita can cause malformations of the organs and nervous system, possibly resulting in paralysis and other symptoms. However, the mental development is still not affected. A causal therapy of arthrogryposis multiplex congenita is not possible. For this reason, mainly the symptoms are treated and limited with the help of therapies. Life expectancy is not limited as long as there is no damage or malformation of the organs. In some cases, those affected depend on the help of other people to cope with everyday life.
When should you see a doctor?
In most cases, arthrogryposis multiplex congenita is diagnosed right before birth or after the child is born. For this reason, the diagnosis of arthrogryposis multiplex congenita does not need to be made separately. However, those affected by this disease are dependent on a very comprehensive treatment so that the symptoms can be limited. A doctor should be consulted especially if there are limitations in everyday life and if the child’s development is restricted. As a rule, arthrogryposis multiplex congenita is diagnosed by a general practitioner or by a pediatrician. Further treatment of arthrogryposis multiplex congenita is then finally carried out by an orthopedist or by a therapist. It is not uncommon for those affected to suffer from psychological and mental discomfort in addition to the physical symptoms. The parents or relatives of the affected children may also suffer from these complaints and require psychological treatment. This should be sought especially if the patients may be bullied or teased.
Treatment and therapy
The therapy of arthrogryposis multiplex congenita is based on several pillars. The maxim is that function must take precedence over aesthetics. Treatment should begin as early as possible to help the child achieve age-appropriate development. A middle course must be found between too much and too little therapy. It must be remembered that too much therapy, just like the physical impairment, can put equal strain on the child’s psyche. Once the diagnosis has been made, conservative therapy should begin immediately after birth. This conservative therapy includes proper positioning of the infant, manual treatments and neurophysiological procedures. There are a total of four therapy options including physical therapy, occupational therapy, orthopedic devices, and surgery. Which forms of therapy or which combinations of therapies are used depends on the specifics of the individual case and the severity of the condition. Physical therapy should be started immediately because it is very successful in treating AMC. In this process, manual therapies are used to gradually loosen the stiffened joints. Therapies based on neurophysiology are intended to stimulate neuromuscular activities that are still present. In the beginning, the intensity of this therapy is naturally very high. However, it can later be reduced to a basic program without disadvantages. Occupational therapy should be carried out in parallel with physiotherapy. With its help, the affected children are enabled to better cope with their everyday life in the family, kindergarten or school. This therapy includes, among other things, the improvement of movement sequences, implementation and processing of sensory impressions, improvement of body perception, development of endurance and concentration, improvement of communication with other people and the development of motivations. Orthopedic aids are used when physical therapy alone is not sufficient to enable the child to walk. Corrective surgery may also be needed for severe disabilities.
Outlook and prognosis
The prognosis for arthrogryposis multiplex congenita is not very optimistic. Despite medical advances, the disease cannot be cured given current scientific options. Regardless of the form of expression, all three possible types of the disease cannot be cured so far. The current lack of a cure may be due to the unclear cause of the disease. A genetic disposition is suspected. This assumption is currently not certain. Therapies are aimed at coping well with the limitations in everyday life.At an extremely early stage, the child learns how to optimize the movement sequences for himself. In addition, emotional support and psychotherapy are needed. The patient’s cooperation is also important in order to make sufficient progress and to live as age-appropriate a life as possible. Although the disease is not curable, it does not progress. Therefore, an increase in symptoms is not to be expected. Within the process of growth and development, it is important to adjust the way of life to the needs and possibilities of the patient. The activities that can be implemented are encouraged and optimized. This helps to achieve a good quality of life even as an adult. In some cases and depending on the individual specifications, surgical intervention is performed to additionally improve the existing possibilities.
Prevention
It is not possible to causally prevent arthrogryposis multiplex congenita. The disease is congenital and the result of developmental disorders during pregnancy. However, harmful influences such as smoking, drinking, and drug use should be avoided by the expectant mother during pregnancy. Every effort should also be made to prevent viral infection.
Aftercare
In most cases of arthrogryposis multiplex congenita, the measures of follow-up care are severely limited. In this case, the affected person is primarily dependent on the rapid detection and treatment of this disease, although a complete cure is usually not possible. The further course of Arthrogryposis multiplex congenita also depends very much on the exact nature and severity of the symptoms, so that no general prediction can be made. The treatment is carried out with the help of various therapies. In many cases, those affected can perform various exercises from physiotherapy or physical therapy in their own homes to alleviate the symptoms. However, many patients with arthrogryposis multiplex congenita are also dependent on help from their friends and family to make everyday life easier. Not infrequently, psychological help is also needed to prevent psychological upsets and depression. In many cases, it is also necessary to use various aids that can facilitate the daily life of the affected person. Whether arthrogryposis multiplex congenita reduces the patient’s life expectancy cannot be universally predicted.
Here’s what you can do yourself
Because arthrogryposis multiplex congenita is a congenital disease, the first step is for the obstetricians and the patient’s parents and family members to take action. The sooner the disease is recognized and treated, the greater the likelihood that the child will be able to develop in an age-appropriate manner. At the first signs of congenital joint stiffness, parents of affected children should immediately consult a specialist. They can obtain information about suitable doctors and clinics from the medical association, their health insurance company or self-help groups that are active locally and on the Internet. If desired, these self-help groups will also put you in touch with families with children of approximately the same age, so that parents can exchange ideas and benefit from each other’s experiences. The self-help groups also answer all questions about the disease and give tips on how to cope with specific problems in daily life. With increasing age, patients can also contribute to improving their condition themselves. An important contribution to improving the condition is made by physiotherapy, which should be started as soon as possible. Manual therapy can loosen the stiffened joints. Therapies based on neurophysiology are aimed at stimulating neuromuscular activity. Orthopedic aids such as splints or support apparatuses and the use of walking aids or wheelchairs can also help to improve the patient’s mobility and ensure a largely self-determined life.
