Arthrogryposis

All congenital diseases and syndromes associated with joint stiffness are traditionally united by one term - arthrogryposis, or the syndrome of multiple congenital contractures. The type of patients is so typical that the diagnosis is not difficult. However, the term "arthrogryposis" itself is still not clearly defined.

Arthrogryposis is a heterogeneous group of diseases characterized by congenital contractures in two or more joints in combination with muscular hypo- or atrophy, which has signs of spinal cord motoneurons lesion.

ICD-10 code

Q74.3 Congenital multiple arthrogryposis.

Epidemiology of arthrogryposis

The incidence of arthrogryposis is 1 in 3000 newborns.

[1]

What causes arthrogryposis?

At present, there are five theories of the occurrence of arthrogryposis: mechanical, infectious, hereditary, myogenic and neurogenic.

Symptoms of arthrogryposis

In patients with arthrogryposis, contractures are always congenital and are combined with hypotrophy or muscle atrophy. The lesions are usually symmetrical, there is no progression after the birth of the child, but with age, a relapse of deformities is possible. The extremities are especially affected, in rare cases (with total forms) pathological changes spread to the spine and muscles of the trunk. In most patients, the upper and lower extremities are involved in the process. When the upper limbs are affected, the most often noted intra-rotation-leading contractures in the shoulder joints, extensor contractures in the elbow joints, flexion contractures in the wrist joints in conjunction with the ulnar deviation of the hand and the flexion-contracting contraction of the first finger.

Isolated lesion of the lower extremities occurs more often than the upper ones. At the same time, external-rotational-withdrawing or flexion-leading contractures in hip joints with dislocation or without hip dislocations, flexor or extensor contractures in knee joints of different severity, equino-varus or flat-deformed deformities of the feet are revealed.

In children with a classic form of arthrogryposis, amniotic constrictions, skin syndactyly of the fingers, wrinkling of the skin over the affected joints, pterygiums in the shoulder, elbow, knee joints, vascular changes in the form of telangiectasias and hemangiomas of various localization are observed among the rarer lesions. Systemic damage to internal organs, as a rule, is absent. However, patients with arthrogryposis are prone to frequent respiratory diseases. Intellect in patients with arthrogryposis is preserved.

In a separate group, distal forms of arthrogryposis with characteristic features are distinguished - congenital contractures and deformities of the hands and feet, facial anomalies and hereditary nature of the transmission of the disease. There are 9 forms of distal arthrogryposis according to the Bamshad classification (digititolar dysmorphism, Freeman-Sheldon syndrome, Gordon syndrome, trismus pseudo-cuffdactactylia, pterygium syndrome, congenital arachnodactyly, etc.).

To develop tactics for orthopedic and surgical treatment of patients, a classification of arthrogryposis was created, which includes the following characteristics:

• type of arthrogryposis - classical and distal;
• prevalence - local form (with lesion only of upper or lower extremities), generalized (with defeat of upper and lower extremities), total (with defeat of upper, lower extremities, spine);
• localization - upper extremities (shoulder, elbow, wrist joints, fingers of the hand), lower extremities (hip, knee, ankle, feet);
• type of contractures - flexion, extensor, diverting, leading, rotational and their combination;
• severity of contractures - light, medium and heavy (depending on the severity of contractures, the passive amplitude of movements in the joint and muscle strength).

Screening for arthrogryposis

Prenatal diagnosis of arthrogryposis is very important. It is necessary to conduct ultrasound. Study of pregnant women in critical periods of embryo development. Diagnosis of arthrogryposis is based on observation of fetal mobility, revealing contractures and deformities of joints, reduction in the volume of soft tissues of the extremities.

Diagnosis of arthrogryposis

To diagnose and develop a treatment plan for a patient with arthrogryposis, clinical, neurological, electrophysiological, x-ray, ultrasound examination methods are used.

[2], [3], [4]

Differential diagnostics

Differential diagnosis should be performed with other systemic and neuromuscular diseases, such as Larsen's syndrome, diastrophic dysplasia, chondrodystrophy, Ehlers-Danlos syndrome, spinal amyotrophy, peripheral neuropathies, myopathies, myotonic dystrophy, etc.

[5], [6], [7]

Treatment of arthrogryposis

Non-medicamentous treatment of arthrogryposis

Conservative treatment should be started immediately after the birth of the child, as the result of correction, obtained in the first months of his life, is the most stable. Stage gypsum correction is carried out weekly taking into account the physical condition of the child. Before each stage of correction, therapeutic exercise is applied, aimed at increasing the volume of movements in the joints with simultaneous correction of deformation, thermal and physiotherapy procedures. Parents are taught corrective exercises and styling to eliminate contractures and deformations in the joints of the upper and lower extremities, since they need to be performed 6-8 times a day. All patients with arthrogryposis after correction are supplied with orthesis products.

Among the physiotherapeutic procedures for the improvement of the function and trophism of the neuromuscular apparatus, the ossification of bone structures and the control of osteoporosis, photochromotherapy is used with stimulating colors and relaxing, electrophoresis with pentoxifylline (trental) or aminophylline (euphyllin), neostigmine methylsulfate (proserin), ascorbic acid, calcium , phosphorus, sulfur, magnetoimpulse and electrostimulation, phonophoresis with bischofite, gel kontraktubeks.

Orthopedic treatment is complemented by neurological treatment, which is carried out 3-4 times a year, and includes agents that improve conduction, blood circulation and tissue trophism.

Surgical treatment of arthrogryposis

In the absence of the effect of conservative treatment, surgical correction of contractures in the joints is carried out at 3-4 months, especially on the lower limbs. Surgical treatment of children with arthrogryposis in the elderly age, taking into account the developed skills of self-service and muscle safety. Otherwise, the results of treatment may be negative and lead to even greater disability of the child.

Further management

Children who are diagnosed with arthrogryposis are on dispensary supervision (examination once every 3-6 months). Restorative treatment is carried out constantly, including sanatorium treatment 2 times a year. Children with arthrogryposis are supplied with orthesis products. Social adaptation is carried out in specialized educational and rehabilitation centers for children with orthopedic pathology.