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Arthrogryposis is a group of symptoms characterized by contracture of the joints. Ailment can accompany various diseases. Arthrogryposis, also known as congenital joint stiffness, occurs during the last weeks of fetal development. There are several theories in medicine about the source of joint stiffness, but the unequivocal cause of the ailments development is still unknown.
Arthrogryposis – what is the disease?
Arthrogryposis it also functions under other names as Congenital Stiffness or Arthrogryposis Multiplex Congenita (AMC for short). Arthrogryposis is a series of non-progressive symptoms characterized by polyarticular contractures. The ailment is diagnosed in a newborn baby right after birth, but it develops in the last weeks of fetal life, which is manifested by the limited movements of the baby. The disease is diagnosed in 1 in 3000 newborns, regardless of gender. It is important that joint stiffness does not progress with age, and therapy and rehabilitation can improve movement and ensure the normal functioning of a person with AMC.
Congenital joint stiffness
The disease limits the active movement of the fetus in the last weeks of pregnancy. Lack of traffic, i.e. the so-called akinesiaaffects the abnormal development of joints and connective tissue. Akinesia it can also be a factor in other diseases such as polyhydramnios, micrognathia and lung hypoplasia. Congenital stiffness of the joints significantly limits the movement of the fetus, which translates into anomalies in its structure – periarticular connective tissue hypertrophy occurs and, as a consequence, the joints are immobilized and contracted.
Arthrogryposis – how is the diagnosis and examination performed?
In the diagnosis of arthrogryposis several factors are taken into account. The specialist conducts a thorough family history. If there were any problems in the family on the mother’s or father’s side, such as clubfoot or excessive mobility in the joints, then the risk of developing AMC in a newborn baby it is much larger. Before making a diagnosis, the doctor should learn about the mother’s pregnancy, her health situation, past infections and addictions (smoking, drinking alcohol or taking drugs).
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Ambiguous causes of the disease
Scientists and doctors still don’t know the original one causes medical conditions. Genetic factors play a role in AMCbut it is not finally investigated. Rather, we can talk about the relationship between certain factors and the same arthrogryposis. The onset of the disease is influenced by diseases present in the family, and above all by ailments that affect the mother, such as myotonic dystrophy, multiple sclerosis, and unnatural structure of the uterus or its damage. Infections or other problems during pregnancy, such as rubella, are also important. Appearance AMC it can be caused by teratogens, alcohol, drugs and phenytoin. The reasons the diseases most often indicated by doctors are neurological problems of the fetus. These include meningeal hernia, hydrocephalus, and spinal muscular atrophy. When looking for the cause AMC Akinesia is also mentioned in the period of fetal development, which translates into disorders of connective tissue development, damage and deformation of tendons, joints and bones. Significant limitation of the fetal movement in the last months of pregnancy results in the hypertrophy of periarticular connective tissue and anomalies in the structure of the joints.
Symptoms of the disease in a newborn
The causes of the disease also determine its symptoms. Clinical picture of AMC may vary depending on the specific case. The disease in a newborn baby is characterized primarily by reduced mobility, extension of the elbows, contracture of the hips and knees, unnatural flexion in the wrists, and flexion of the fingers. The disease also causes strong muscle tension. Arthrogryposis in addition, it can cause deformation of the feet, advanced scoliosis, cleft palate, malocclusion, and in later age, short stature. Abnormalities in the structure of other organs of the body are also often observed among patients. Congenital joint stiffness usually manifests itself symmetrically in the body.
In the case of newborns, it may be very important to perform genetic screening for SMA, thanks to which it is possible to introduce professional treatment at an early stage of the disease development.
Types of arthrogryposis
Arthrogryposis due to the area of the body affected by lesions, it can be grouped into several types. The first possibility of division is to distinguish AMC the most common arthrogryposis myogenic and the remaining neurogenic and mixed. Another distinction between the disease is: classical form (affecting all joints), fluff syndrome and arthrogryposis distal.
Arthrogryposis – treatment and rehabilitation
Treatment of hereditary joint stiffness you need to start as soon as possible. In some cases, surgery may be necessary, but appropriate rehabilitation is equally important. Thanks to exercises with a therapist, the child has arthrogryposis it can increase the range of motion, improve body posture and function independently in the future. Speech therapy and learning how to swallow food properly are also important. The sick child should be provided with specialized orthopedic equipment.