Arthrogryposis multiplex congenita
What is Arthrogryposis multiplex congenita?
The main feature of Arthrogryposis multiplex congenita is a congenital joint stiffness of various joints of different sizes. Arthrogryposis multiplex congenita is a collective term for diseases with various causes that lie before birth. Previously, the disease was also referred to as Guérin-Stern syndrome.
The AMC is divided into several types:
- Type 1 involves only the extremities. Type 1 is divided into two subgroups, type 1a and type 1b. In type 1a, mainly only hands and feet are affected by the contractures. When all extremities, including the shoulders and hips, are stiffened, Type 1b is spoken.
- In arthrogryposis multiplex congenita type 2, in addition to the joint stiffening additionally multiple organs malformed. This concerns, for example, the abdominal wall, the bladder, the spine or the head.
- In addition to the malformations already mentioned, type 3 is still characterized by severe impairment of the spine and the nervous system.
The causes of arthrogryposis multiplex congenita are manifold. The disease is the result of prenatal processes. In some cases, a genetic influence is suspected. For example, in certain forms of AMC, a point mutation was found on the ZC4H2 gene (zinc finger gene). This gene is responsible for the synthesis of zinc finger proteins that use zinc atoms to interact with DNA or RNA to direct protein synthesis processes.
Other prenatal influences include viruses or toxins that damage the musculature or the musculature-stimulating nerve tissue. As a result, the muscles can not be properly created. The amount of connective tissue in the musculature and the capsule is too high, so that the length growth of the strands is impaired. This leads to deformation in the affected parts of the body, as a result, the mobility is severely restricted.
During pregnancy, there is already a lack of child movement. To what extent this low mobility is a consequence or partly also a cause of the lack of muscle formation, still needs to be clarified. In any case, arthrogryposis multiplex congenita is multifactorial.
Symptoms, complaints & signs
Arthrogryposis multiplex congenita manifests itself in a multifaceted and often complex appearance. In 11 percent of cases, only the arms are affected. Another 43 percent of patients only have stiffened leg joints. All four extremities are affected in 46 percent of those affected. To the hands and feet, the joint restrictions increase significantly.
Frequently, the core muscles are still easy to move. Other physical and mental development is usually normal. Regardless of the number of joints affected, other organs may be affected. In the extreme case of type 3 arthrogryposis multiplex congenita, severe malformations involving the nervous system are present.
Different imaging techniques are used to diagnose arthrogryposis multiplex congenita. X-ray examinations make it easy to visualize dysplasias and luxations. Magnetic resonance tomography and a muscle biopsy show structural deviations in the area of the musculature. By means of an electromyography (EMG) a differential diagnosis can exclude a myogenic disease as a cause.
Arthrogryposis multiplex congenita causes various complications and complaints. In most cases, the arms and legs are affected and have relatively strong stiffened joints. Likewise, the stiffeners also occur on 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 impact on the mental development of the person concerned.
In some cases, however, arthrogryposis multiplex congenita can also lead to malformations of the organs and nervous system, potentially leading to paralysis and other ailments. However, mental development continues to be unaffected. A causal therapy of arthrogryposis multiplex congenita is not possible.
For this reason, especially 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 in order to master everyday life.
When should you go to the doctor?
In most cases, arthrogryposis multiplex congenita is diagnosed right before birth or after childbirth. For this reason, the diagnosis of arthrogryposis multiplex congenita need not be extra.
However, sufferers are dependent on a very comprehensive treatment for this disease, so that the symptoms can be limited. Especially with restrictions in everyday life and in the restriction of the development of the child, a doctor should be consulted.
As a rule, arthrogryposis multiplex congenita is diagnosed by a general practitioner or by a pediatrician. The further treatment of arthrogryposis multiplex congenita then finally by an orthopedist or by a therapist. Not infrequently suffer the sufferers in addition to the physical and psychological and mental complaints.
The parents or relatives of affected children can also suffer from these symptoms and require psychological treatment. This should be used especially if patients may be bullied or teased.
Doctors & Therapists in your area↳ To find specialist doctors and therapists in your area, please click on: "Search specialists in your area" or enter an address of your choice (eg "Berlin" or "Augustenburger Platz 1 Berlin"). f.name) .join (', ') "> ↳ You are a doctor or therapist and are missing here? Contact us!
Treatment & 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 develop in an age appropriate manner. Here, a middle ground between too much and too little therapy must be found. It should be remembered that over-intensive therapy as well as physical impairment can burden the child's psyche equally.
After diagnosis, conservative therapy should begin immediately after birth. This conservative therapy includes proper storage of the infant, manual treatments and neurophysiological procedures. In total there are four therapy options, such as physiotherapy, occupational therapy, orthopedic aids and surgeries.
Which forms of therapy or which combination of therapies are used depends on the peculiarities in the individual case and on the severity of the disease. Physiotherapy should be started immediately because it is very successful in the treatment of AMC. Through manual therapies, the stiffened joints are gradually loosened.
Therapies on a neurophysiological basis will stimulate existing neuromuscular activity. At the beginning, the intensity of this therapy is naturally very high. It can later be reduced to a basic program without any disadvantages. Occupational therapy should be carried out parallel to physiotherapy. With their help, the affected children are enabled to better master their everyday life in the family, kindergarten or school.
Among other things, this therapy includes the improvement of movement, the implementation and processing of sensory impressions, the improvement of body awareness, the development of endurance and concentration, the improvement of communication with other people and the development of motivations. Orthopedic aids are used when physiotherapy alone is not sufficient to allow the child to walk. Strong disabilities may require corrective surgery.
Outlook & Forecast
The prognosis for arthrogryposis multiplex congenita is not optimistic. The disease can not be cured despite the medical advances in the current scientific possibilities. Regardless of the form, all three types of the disease can not be healed so far. The current lack of a cure may be due to the lack of clarity of the cause of the disease. A genetic disposition is suspected. This assumption is not secure at present.
Therapies aim at a good deal in everyday life with the restrictions. The child learns at an early stage how to optimize the movement sequences for himself. In addition, it requires emotional support and psychotherapy. The cooperation of the patient is also important in order to achieve sufficient progress and to arrange a life as appropriate for the age as possible. Although the disease is not curable, it also experiences no progress. An increase in complaints is therefore unlikely.
Within the growth and development process, it is important to tailor the lifestyle to the needs and possibilities of the patient. The actionable activities are promoted and optimized. This helps to achieve a good quality of life even as an adult person. In some cases, and depending on the individual requirements, an operative intervention is made in order to additionally improve the existing possibilities.
It is not possible to prevent arthrogryposis multiplex congenita causally. The disease is congenital and the result of developmental disorders during pregnancy. Harmful influences such as smoking, drinking and drug use should avoid the expectant mother during pregnancy. Everything should be done to prevent a virus infection.
In the case of arthrogryposis multiplex congenita, after-care measures are in most cases severely limited. The person concerned is primarily dependent on the rapid detection and treatment of this disease, with a complete cure is usually not possible. The further course of arthrogryposis multiplex congenita 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 also pursue various exercises from physiotherapy or physiotherapy in their own homes and thereby alleviate the symptoms. However, many sufferers in arthrogryposis multiplex congenita also rely on the help of their friends and their family to make everyday life easier.
It is not rare that psychological help is needed to prevent mental upsets and depression. In many cases, different aids must be used, which can facilitate the everyday life of the person concerned. Whether arthrogryposis multiplex congenita reduces the patient's life expectancy can not be universally predicted.
You can do that yourself
As arthrogryposis multiplex congenita is a congenital disease, the patient's obstetricians and parents and family members are initially required. The sooner the disease is recognized and treated, the greater the likelihood that the child will be able to develop age appropriate.
At the first signs of congenital joint stiffening, parents of affected children should seek immediate medical attention. Information about suitable doctors and clinics is provided to them by the medical association, their health insurance or self-help groups that are active on site and on the internet.
Upon request, these self-help groups also establish contact with families of children of the same age so that parents can exchange ideas and benefit from each other's experience. The self-help groups also answer all questions about the disease and give tips for dealing with specific problems of daily life.
With increasing age, patients can also help themselves to improve their condition. An important contribution to the improvement of the condition is provided by the physiotherapy, which should be started as soon as possible. Through manual therapy, the stiffened joints can be loosened. Neurophysiological-based therapies are designed to stimulate neuromuscular activities.
Also, orthopedic devices such as splints or braces, as well as the use of walkers or wheelchairs can help improve patient mobility and ensure a largely self-determined life.