Dysmelia can take various forms. According to the form of the malformation, appropriate therapeutic measures are usually based on the individual.
What is dysmelia?
Dysmelia is a malformation that affects the limbs (legs, arms, hands, and/or arms). Malformations associated with dysmelia are already congenital. Depending on the affected person, the malformation can affect several limbs as well as only a single limb. Medicine distinguishes between different forms of dysmelia: A so-called amelia describes the absence of a complete limb or several complete limbs. If a phocomelia is present in the context of a dysmelia, the feet or hands attach directly to the hip or shoulder. If dysmelia develops in the form of peromelia, this is manifested in the affected person by the formation of stumps on limbs. Finally, in ectromelia, the long bones of the extremities cause deformities. Worldwide, approximately 0.02% of people have dysmelia.
Causes
Although dysmelia is a congenital malformation, it is rarely inherited or caused by a genetic defect. However, the exact causes of dysmelia often cannot be determined. In many cases, external influences during pregnancy are probably partly responsible for the development of dysmelia. For example, various viral infections can contribute to a corresponding malformation. A lack of oxygen to the embryo is also a possible cause of dysmelia. Furthermore, too little amniotic fluid or malnutrition (such as a lack of B vitamins) of the pregnant woman can be behind a dysmelia. Various hormone preparations or amalgam are also suspected of promoting the development of malformations. Last but not least, drug abuse in pregnant women probably also contributes to dysmelia.
Symptoms, complaints, and signs
Dysmelia usually manifests itself through distinct symptoms and signs. Due to insufficient oxygen supply, various malformations of the limbs occur. These can usually be detected before birth via ultrasound or at the latest after delivery by a visual diagnosis. As a rule, the malformations occur on the limbs, especially on the fingers and toes. In most cases, affected children suffer from several disabilities. The malformations are accompanied by movement restrictions. Thus, those affected can only move their fingers to a limited extent or not at all. The disabilities often result in secondary diseases and various complaints. In the affected body regions, there are typically circulatory disturbances, but also eczema, bleeding, phantom pain and edema, always depending on the type and extent of the malformation. In severe cases, the malformations can cause permanent physical disabilities, such as when they occur in the spine or affect a large portion of the limbs. Because dysmelia develops in the last months of pregnancy, the condition can sometimes be detected by unusual contractions. An ultrasound examination provides clarity about the symptoms and allows for rapid and targeted treatment.
Diagnosis and course
An existing dysmelia can be diagnosed already in the womb; medicine also refers to such a diagnosis as so-called prenatal diagnostics. Such prenatal diagnostics for the detection of dysmelia is possible, for example, through the use of fine ultrasound – with the help of a very high-resolution ultrasound device, it is possible here to visualize malformations of the unborn child. The course of dysmelia differs depending on the corresponding form of the malformation. The development of the extremities in the unborn child is in a very sensitive phase from about the 29th to the 46th day of pregnancy; developmental disorders that express themselves in dysmelia probably occur during this period. Any dysmelia present does not usually change during life. However, appropriate supportive measures can make everyday life easier for affected individuals.
Complications
Many different complications occur with dysmelia. In general, the patient’s life becomes extremely difficult and ordinary activities can no longer be performed.In most cases, the affected persons are also dependent on the help of other people. The deformities are just as visible to other people and can thus also lead to social problems. In many cases, children with dysmelia are bullied or teased and do not find a connection. As a result, an aggressive attitude can develop, which leads to social exclusion. The parents of the children are also often exposed to psychological discomfort and need to be cared for by a psychologist. So far, there is no cure for dysmelia. However, there are no complications with this disease. The symptoms are permanent and will not worsen or improve. For this reason, no further complications can occur during treatment. This is usually carried out with the help of various aids, which can help the patient to cope with everyday life mostly without the help of other people and thus is no longer completely restricted in life.
When should you go to the doctor?
Dysmelia is usually diagnosed in the womb or immediately after birth. Parents of an affected child should talk to the pediatrician regularly and also consult a specialist who can specifically treat the deformities. The child will need regular check-ups anyway and may also require therapeutic support. Especially when the child attends kindergarten for the first time or starts school, good attention should be paid to any changes in behavior. Often dysmelia patients are ostracized and develop psychological problems such as depression or inferiority complexes already in early childhood. Parents who notice this should consult a psychologist and also talk to the responsible persons in kindergarten or school. If the dysmelia causes limitations later in life, a doctor must be consulted in any case. In most cases, the symptoms can at least be alleviated by therapeutic measures. Prerequisites for this are regular routine examinations and comprehensive support from the relatives.
Treatment and therapy
The therapy of dysmelia is usually designed individually according to the needs of an affected person and differs depending on the existing form of the malformation. In most cases, appropriate therapy begins immediately after birth. The therapy of dysmelia usually integrates different therapeutic approaches: For example, a person affected by dysmelia is accompanied therapeutically by both physicians and physiotherapists; depending on the individual case, psychological support can also have a positive effect on the way a person affected deals with the present malformation. If, for example, the mobility of joints is impaired due to dysmelia, good results can often be achieved through intensive physiotherapeutic measures; in this context, promoting the mobility of joints is also referred to as redressing. Various malformations in the context of dysmelia can be treated surgically so that impaired functions can be improved. The age at which corresponding surgical interventions take place depends, among other things, on the type of malformation. Finally, the use of various prostheses is also possible to replace missing limbs.
Outlook and prognosis
If dysmelia is detected and treated early, the prognosis is usually very good. Affected individuals can usually live a relatively symptom-free life. However, a large proportion of patients are dependent on medical and human assistance for the rest of their lives. Medical check-ups and therapeutic measures must be carried out over many years and often even until the end of life, as the malformations can repeatedly lead to complications. Serious malformations can make surgical interventions necessary. These always represent a considerable burden for those affected, and in the long term, regular visits to the doctor and examinations also limit the patient’s quality of life and thus his or her well-being. If not treated or treated inadequately, the numerous movement restrictions can cause serious health problems. For example, many affected individuals suffer from gait disturbances, problems grasping objects, or postural deformities. All these complaints cause serious physical and mental discomfort in the long term.If the patient does not receive comprehensive medical care, it can lead to a variety of physical secondary diseases, but also to depression, social anxiety and inferiority complexes. In principle, however, the outlook for dysmelia is good.
Prevention
Because the exact causes of dysmelia are often unknown, targeted prevention is limited. However, the risk of dysmelia occurring can be reduced by pregnant women taking various behavioral measures to heart; for example, avoiding malnutrition, avoiding illegal drugs, and regular checkups can help prevent dysmelia in the unborn child.
Follow-up
In most cases of dysmelia, there are no or very few aftercare measures and options available to the affected person. Since this disease is the occurrence of various malformations, they must be detected and treated by a doctor at an early stage in any case, since it can also not heal on its own. An early diagnosis usually always has a positive effect on the further course of the dysmelia and can prevent a further worsening of the symptoms. In most cases, those affected by dysmelia require surgical intervention to alleviate the symptoms. Affected individuals should take it easy on their bodies for a while afterwards. Effort or stressful activities should be avoided so as not to put unnecessary strain on the body. Further discomfort can be alleviated by physiotherapy measures. The affected person can also repeat many exercises at home and thus improve the movement of the body. In many cases, affected people are also dependent on psychological treatment, and discussions with friends and one’s own family are also very useful.
What you can do yourself
Depending on the type of deformity and the individual needs of the person affected, dysmelia can be treated independently to a certain extent. This can be achieved, for example, through physiotherapeutic measures such as physiotherapy and movement exercises in everyday life. Parents should encourage the affected child to exercise in order to improve the mobility of the damaged joints in the long term. Accompanying this, the affected children can take advantage of therapeutic counseling, where they often also come into contact with other affected persons. The parents and relatives of a dysmelia patient are usually also offered therapeutic support. The doctor in charge will recommend possible contacts (self-help groups, specialist clinics for malformations, etc.) and sometimes also support the affected person in the therapeutic treatment of the malformation. Since dysmelia is not yet completely curable, the acquisition of prostheses and other aids is also advisable. In the long term, those affected and their relatives must learn to live with the condition. This can be achieved on the one hand by therapeutic measures and on the other hand by dealing openly with the disease. Those affected can find contacts in forums, self-help groups and the Children’s Network for Malformations, for example.
