Causes, symptoms and new treatments for arthrogryposis in children

Arthrogryposis: severe congenital malformation in the joints

The term «arthrogryposis» literally means «curved joint» that most succinctly characterizes this serious disease.

Disease is a congenital deviation of the development of the joints at which they almost completely lacking mobility, and unnatural fixation visible to the naked eye.

Associated factors are immaturity of the muscle structure and, often, lesions of the spinal cord.

What happens in pathology

The mechanism of onset of arthrogryposis is still not fully understood, and in utero Genesis of the disease precludes the possibility of detailed studies on this subject.

Diagnosis is real only after the birth of the child and his visual inspection.

Thus, the lack of a definite answer to the cause of the disease causes the appearance of multiple theories regarding the mechanism of its development, cause-and-effect relationships, leading to a visible result is contracture of the joints, their unnatural development and weak muscle activity.

Today we have two opposite versions:

  • in the first place puts muscle degeneration, causing multiple lesions in the spinal cord and contracture of the joints;
  • claims that abnormalities of nerve fibers in the spinal cord primary, and the other factors are a consequence of these pathologies.

In both cases, the result of influence of teratogenic factor is muscular dystrophy and stiffness of the joints.

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To identify the exact list of factors leading to the formation of multiple contractures (joint immobility), still fails.

Thus, the list of possible causes of arthrogryposis is quite extensive:

  • the presence of failed pregnancies in the anamnesis of the mother, abortion;
  • chemical and physical factors of influence on the fetus;
  • the existence of bad habits from their parents;
  • adverse conditions during pregnancy;
  • severe chronic diseases of the mother;
  • uncontrolled use of medicines during pregnancy;
  • viral or bacterial infection;
  • abnormal structure of the uterus;
  • polyhydramnios.
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Symptoms and diagnosis of disease

Early diagnosis almost impossible.

To determine the wrong course of pregnancy is possible only according to a number of indirect signs, such as:

  • later onset of fetal movements;
  • small fetal activity.

More accurate and obvious signs of the disease are diagnosed after the actual birth of the child:

  • an unnatural position two or more joints;
  • their inactivity or complete fixation;
  • the apparent underdevelopment of the muscle structure.

Further examinations and studies of children suffering from arthrogryposis, allow detection of clubfoot, congenital dislocations, facial distortions, deformations of the skeleton.

It is important to conduct a comprehensive diagnosis, not losing sight of other neuromuscular diseases.

While encouraging the use of radiographic, ultrasonic, electrophysiological, clinical and neurological research methods.

Classification of the disease

For convenience and accuracy of the diagnosis and appointment of adequate treatment, the world medical community proposed a complex classification of diseases.

Type of disease:

  • classic;
  • distal.

Localization of lesions:

  • generalized arthrogryposis (involving both extremities of the belt) is the most common case 55%;
  • pathology of the lower limbs (33%);
  • with the involvement of only upper limb (12%).

Method of distribution:

  • local (affected only one zone of extremities);
  • General (pathology observed in joints and the upper and lower extremities);
  • total (a disease spread not only on the two belt extremities, but for the spine).

Appearance of contractures:

  • flexor, extensor;
  • which outlet;
  • rotary;
  • multiple.

The severity of the disease:

  • first degree (mild);
  • the second (middle);
  • the third (severe form).

Features of the disease

One of the main features of the disease include its non-hereditary nature.

In rare cases, there is an increase in the frequency of occurrence of arthrogryposis in one family, however, the reasons for this are not established.

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Other features of the disease include:

 

  • the symmetry of the deformations;
  • static disease (no progression of the pathologies throughout life);
  • a healthy intellect (the disease is mostly physical in nature);
  • the absence of lesions of the internal organs.

Of course, these features suggest the presence of a small number of exceptions which, however, do not affect the scheduling statistics.

Conservative treatment

The main factor in successful treatment is early and regular supervision of the podiatrist.

The results achieved in the first months of life, have the most stable effect. Of course, from the parents of the sick child will require a lot of physical and moral strength, a large amount of time needs to be spent on exercises and massages; and a willingness to learn new recovery techniques.

Conservative methods of treatment, preferably operational in the first year of a child’s life.

Non-drug therapy beginning with the upper belt of the limbs, because it is believed that the initial treatment should be aimed at restoring self-help skills, then progresses to therapy, and plugging of the lower extremity, and spine of the child.

The main methods of treatment for arthrogryposis include:

  • systematic gypsuming joints starting at 4 days of age (for fixation of limbs in the correct position);
  • courses therapeutic exercises preceding each phase-commit (to strengthen muscles and increase range of motion in the joint);
  • therapeutic massage (both strengthening and relaxing courses of maintenance therapy);
  • electrophoresis with various medications;
  • heat and physiotherapy;
  • drug therapy aimed at neurological recovery and improve circulation.

In addition, you need a great desire of parents to help their child and their hourly participation in his recovery.

In the Cabinet of a healthy child, an orthopedist will show parents of special exercises, massage and simple ways of styling the baby, to reduce contractures and General muscle recovery.

These procedures must be perform up to 8 times a day, observing the regularity.

Surgery

Surgical intervention is indicated only in extreme cases where traditional treatment does not bring effect.

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Is allowed to operate for children from 3 months of age, especially if the affected arthrogryposis of the lower limbs of the child.

However, the optimal age for such intervention is considered to be 3-4 years, when you can fully evaluate the results of conservative therapy and on the mend.

In any case, you should consider that surgery may not improve the patient’s condition or even cause more damage.

Predictions for recovery

Although arthrogryposis is considered a rare genetic disorder, this disease is not surprising to experienced orthopaedic surgeons.

To date, developed many techniques of rehabilitation therapy that give tangible results, with a strong attachment to the child of effort, money and time.

Of great importance is the severity of the disease and localization of the affected joints. Thus, when total and total disease the prognosis is rather serious, at the local – favorable. Mild forms of disease amenable to therapy is better than heavy.

Of course, a huge role on the way to fitness plays a desire of parents to help. You need to be aware that the treatment requires more than one year and will occupy every spare minute.

Nevertheless, children, health, regularly, persistently and persistently engaged parents successfully master the primary self-help skills, learn to walk and write, to play well with others, can attend a regular school and be successful academically.