Arthrogryposis multiplex congenita

The Arthrogryposis multiplex congenita is (AMC) characterized by a congenital contracture of one or more joints. There is an inconsistent clinical picture. The disease cannot be cured, but it is also not progressive.

What is arthrogryposis multiplex congenita?

The main feature of arthrogryposis multiplex congenita is a congenital stiffening of various joints of varying degrees. Arthrogryposis multiplex congenita is a collective term for diseases with various causes that occur before birth. The disease used to be called Guérin-Stern Syndrome designated.

The AMC is divided into several types:

• In type 1, only the extremities are involved. Type 1 is divided into two subgroups, type 1a and type 1b. In type 1a, the contractures mainly affect only the hands and feet. 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 also malformed. This affects, for example, the abdominal wall, the urinary bladder, the spine or the head.

• In addition to the malformations already mentioned, type 3 is also characterized by severe impairment of the spine and the nervous system.

causes

The causes of arthrogryposis multiplex congenita are manifold. The disease is the result of prenatal processes. In some cases a genetic influence is suspected. A point mutation in the ZC4H2 gene (zinc finger gene) was found in certain forms of AMC. This gene is responsible for the synthesis of zinc finger proteins, which interact with and with DNA or RNA with the help of zinc atoms Control protein synthesis processes.

Other prenatal influences involve viruses or toxins that damage the muscles or the nerve tissue that stimulates the muscles. This means that the muscles cannot be properly applied. The proportion of connective tissue in the muscles and the joint capsule is too high, so that the length growth of the cords is impaired. This leads to deformation in the affected body sections, as a result of which mobility is severely restricted.

The child's lack of movement is already apparent during pregnancy. The extent to which this poor mobility is a consequence or partly also a cause of the lack of muscle formation remains to be clarified. In any case, arthrogryposis multiplex congenita is multifactorial.

Symptoms, ailments & 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 impaired in 46 percent of those affected. The joint restrictions increase significantly towards the hands and feet.

Often the core muscles are still flexible. Other physical and mental development is usually normal. Regardless of the number of joints affected, other organs can also 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 tests are used to diagnose arthrogryposis multiplex congenita. Dysplasias and dislocations can be shown well with X-ray examinations. Magnetic resonance tomography and a muscle biopsy reveal structural deviations in the area of ​​the muscles. By means of electromyography (EMG), a myogenic disease can be excluded as the cause by differential diagnosis.

Complications

With arthrogryposis multiplex congenita there are various complications and complaints. In most cases, the arms and legs are affected and the joints are relatively stiff. The stiffening also occurs on the feet and hands and can lead to significant mobility restrictions for the patient.

The everyday life of the person affected is considerably restricted by arthrogryposis multiplex congenita. Furthermore, there are no complications, the disease does not progress and does not hinder the further development of the patient. There is also no negative impact on the mental development of the person concerned.

In some cases, however, arthrogryposis multiplex congenita can also cause malformations of the organs and the nervous system, which may lead to paralysis and other complaints. 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 restricted as long as there is no damage or malformation to the organs. In some cases, those affected are dependent on the help of other people in order to cope with everyday life.

When should you go to the doctor?

In most cases, arthrogryposis multiplex congenita is diagnosed immediately before or after the child is born. For this reason, the diagnosis of arthrogryposis multiplex congenita does not have to be made separately.

With this disease, however, those affected are dependent on very comprehensive treatment so that the symptoms can be limited. A doctor should be consulted, especially if there are restrictions in everyday life and if the child's development is restricted.

As a rule, arthrogryposis multiplex congenita is diagnosed by a general practitioner or a pediatrician. The further treatment of arthrogryposis multiplex congenita is then finally carried out by an orthopedic surgeon or a therapist. It is not uncommon for those affected to suffer not only from physical but also from psychological and mental complaints.

The parents or relatives of the affected children can also suffer from these symptoms and need psychological treatment. This should be used especially if the patient may be bullied or teased.

Doctors & therapists in your area

Treatment & Therapy

The therapy of arthrogryposis multiplex congenita is based on several pillars. The maxim is that function must have priority over aesthetics. Treatment should start as early as possible to help the child develop appropriately. A balance has to be found between too much and too little therapy. It should be borne in mind that too intensive therapy, just like the physical impairment, can burden the child's psyche equally.

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 such as physiotherapy, occupational therapy, orthopedic aids and operations.

Which forms of therapy or which therapy combinations are used depends on the specifics of the individual case and on the severity of the disease. Physiotherapy should be started immediately because it is very effective in treating AMC. The stiffened joints are gradually loosened through manual therapy.

Therapies on a neurophysiological basis are intended to stimulate existing neuromuscular activities. In the beginning, the intensity of this therapy is naturally very high. It can later be reduced to a basic program without any disadvantages. Ergotherapy should be carried out in parallel with physiotherapy. With their help, the affected children are able to cope better with 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 awareness, development of endurance and concentration, improvement of communication with other people and the development of motivations. Orthopedic aids are used when physiotherapy alone is not enough to enable the child to walk. Corrective operations may also be necessary in the case of severe disabilities.

Outlook & forecast

The prognosis for arthrogryposis multiplex congenita is not very optimistic. Despite medical advances, the disease cannot be cured with current scientific possibilities. Regardless of the manifestation, all three possible types of the disease cannot yet be cured. The current lack of a cure may be due to the lack of clarity about the cause of the disease. A genetic disposition is assumed. This assumption is currently not certain.

Therapies aim at dealing effectively with the restrictions in everyday life. The child learns very early on how to optimize the movement sequences for himself.In addition, emotional support and psychotherapy are required. The cooperation of the patient is also important in order to achieve sufficient progress and to shape an age-appropriate life. Although there is no cure for the disease, it does not progress. An increase in complaints is therefore not to be expected.

During the growth and development process, it is important to adapt the lifestyle to the needs and possibilities of the patient. The activities that can be implemented are promoted and optimized. This helps to achieve a good quality of life even as an adult. In some cases and depending on the individual requirements, an operative intervention is carried out in order to additionally improve the existing possibilities.

prevention

It is not possible to prevent the cause of arthrogryposis multiplex congenita. The disease is congenital and the result of developmental disorders during pregnancy. However, the expectant mother should avoid harmful influences such as smoking, drinking and drug use during pregnancy. Everything should also be done to prevent viral infection.

Aftercare

In most cases of arthrogryposis multiplex congenita, follow-up measures are severely limited. 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 type 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 do various exercises from physiotherapy or physiotherapy in their own home and thereby alleviate the symptoms. However, many sufferers of arthrogryposis multiplex congenita also need help from their friends and family to make everyday life easier.

It is not uncommon for psychological help to be required in order to prevent psychological upsets and depression. In many cases, various aids must be used that can make everyday life easier for the person concerned. Whether arthrogryposis multiplex congenita will reduce the life expectancy of the patient cannot be universally predicted.

You can do that yourself

Since arthrogryposis multiplex congenita is a congenital disease, the obstetricians as well as the parents and family members of the patient are challenged. The sooner the disease is identified 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. Information about suitable doctors and clinics can be obtained from the medical association, your health insurance company or self-help groups that are active on site and on the Internet.

On request, these self-help groups can also establish contact with families with children of about the same age, so that parents can exchange ideas and benefit from each other's experiences. The self-help groups answer all questions about the disease and give tips on how to cope with specific problems in everyday life.

As patients get older, they can do their part to improve their condition. Physiotherapy, which should be started as soon as possible, makes an important contribution to improving the state of health. The stiffened joints can be loosened through manual therapy. Therapies based on neurophysiology are aimed at stimulating neuromuscular activity.

Orthopedic aids such as splints or supporting devices as well as the use of walking aids or wheelchairs can help improve patient mobility and ensure a largely independent life.