Arthrogryposis
The content of the article:
- Causes and risk factors
- Forms of the disease
- Symptoms
- Diagnostics
- Treatment
- Possible complications and consequences
- Forecast
Arthrogryposis is a congenital disease characterized by limited mobility of two or more large joints in non-adjacent areas, as well as muscle damage (hypo- and atrophy) and spinal cord in the absence of other known systemic diseases.
Arthrogryposis with damage to the wrist joints
For the first time, mention of a sick child, the manifestations of the disease of which resembled arthrogryposis, is found in the works of the French surgeon A. Paré (16th century). A full description of the pathomorphological picture of arthrogryposis, made in 1905, belongs to Rosenkrantz. At various times in the literature, many synonyms have been used to designate the disease: congenital multiple contractures with muscle defects, congenital amyoplasia, arthrodyskinesia, congenital deforming myopatosis, congenital multiple contracture syndrome, multiple congenital rigid joints. The term "congenital multiple arthrogryposis", which is most often used at the moment, was proposed by the American orthopedist W. G. Stern in 1923.
Most foreign sources indicate the probability of having a child with arthrogryposis as 1: 3000. Nevertheless, there are significant differences in the incidence of the disease in different countries: in Australia, for example, this probability is 1:12 000, and in Scotland - 1:56 000.
Among the congenital pathologies of the musculoskeletal system, arthrogryposis is one of the most serious diseases.
Causes and risk factors
Currently, many factors are known that can lead to the onset of arthrogryposis, but the mechanism of its development is not fully understood.
Despite the fact that the disease is congenital, it occurs spontaneously, in the early stages of intrauterine development (at 4–5 weeks) and is not inherited (except for the distal form, which is inherited in an autosomal dominant manner). The damaging effect at the stage of formation of muscle fibers and articular structures leads to their deformation.
Secondary damage to muscles and joints is also possible due to damage to the motor neurons of the fetal spinal cord. In this case, a change in the innervation of the muscles leads to a violation of their tone, which restricts movement in the joints, leads to deformation of the ligamentous apparatus and clinically manifests itself by fixing the joint in a certain (atypical) position.
A significant role in the development of arthrogryposis, according to a number of researchers, is also assigned to the forced limitation of fetal mobility in the uterine cavity.
Provoking factors:
- infectious and inflammatory diseases (measles, rubella, influenza, cytomegalo- and parvovirus infection, toxoplasmosis, etc.), acutely developed in early pregnancy or having a long chronic course;
- ionizing radiation;
- anomalies in the structure of the uterus;
- fetoplacental insufficiency;
- taking medications (immunosuppressants, androgens, heavy metal preparations, anti-tuberculosis, antineoplastic, anticonvulsants, some antibacterial, antiviral agents, etc.);
- severe chronic diseases of the mother;
- the use of prohibited substances, alcohol during pregnancy;
- trauma;
- toxic chemicals; etc.
Forms of the disease
Depending on the localization of pathological changes, 4 main forms of the disease are distinguished:
- Generalized (common) arthrogryposis (more than 50% of cases).
- Arthrogryposis affecting the lower extremities (about 30%).
- Arthrogryposis affecting the upper extremities.
- Distal arthrogryposis.
Arthrogryposis affecting the lower extremities
Contractures for arthrogryposis are:
- diverting;
- leading;
- flexion;
- extensor;
- rotary;
- combined.
According to the severity, mild, moderate and severe arthrogryposis are distinguished.
Symptoms
The characteristic picture of the disease is due to the following pathomorphological features:
- muscle hypo- and atony, degenerative changes in muscle tissue;
- limited mobility and deformation of the joints, fixing them in a certain position;
- shortening and deformation of the ligamentous apparatus;
- abnormal attachment of muscles to long bones;
- deformation and retardation of the growth of tubular bones;
- damage to motor neurons of the spinal cord, peripheral nerves, damage to the supraspinal connections.
In the generalized form of the disease, the shoulder, elbow, wrist, knee hip joints are more often damaged. Muscle tone is reduced, there is a sharp restriction of movement in the joints of the affected limbs (depending on the type of contractures), their stiffness. Joint damage is usually symmetrical.
The upper limbs of patients with arthrogryposis have a characteristic appearance from the moment of birth: adduction and inward turn in the shoulder joints, extensor (less often flexion) contractures in the elbow joints, flexion contractures in the wrist joints, fixation in an incorrect position and deviation outward of the hands and fingers are observed, severe hypoplasia of the muscles of the shoulder girdle and the entire limb, limitation of passive and active movements in the joints.
In addition to large joints, the joints of the hands and feet are sometimes affected, and deformation of the facial skull is noted. Curvature of the spine of varying severity is possible.
In other forms of arthrogryposis, the joints of the hands and feet, large joints of the upper or lower extremities are affected.
The absence of disease progression after childbirth is characteristic. Arthrogryposis is not accompanied by pathology of internal organs or intellectual disabilities.
Sometimes additional non-specific symptoms are present:
- retraction of the skin over the altered joints;
- small punctate hemorrhages and spider veins;
- a tendency to frequent respiratory diseases;
- clubfoot;
- fusion of fingers; and etc.
Diagnostics
Diagnosis of arthrogryposis, as a rule, does not require additional research methods and is based on an objective examination of the patient (the characteristic location of the limbs, muscle aplasia and joint deformity are revealed).
The disease is usually diagnosed in the prenatal period during a routine ultrasound examination.
Treatment
Conservative therapy should be started from the first days of life (due to the high elasticity of connective tissue in children in the neonatal period and, as a result, a favorable prognosis) and include:
- massage;
- physiotherapy exercises;
- the simplest physiotherapeutic measures (saline heating pads, paraffin or ozokerite applications);
- electrophoresis with vascular drugs, drugs that improve the conduction of nerve impulses, absorbable drugs;
- pharmacotherapy with antioxidant drugs, agents that enhance cholinergic and GABAergic processes;
- neurostimulation.
From the first days of life, a child undergoes staged plaster cast to eliminate deformations of tubular bones and joints. To correct contractures of smaller joints, special plaster splints are made.
Splints for fixing limbs in the correct position
Corrective exercises and styling are performed 4 to 6 times a day (30-minute sessions), after which splints are put on the affected joints to keep the limb in the correct position in order to prevent the recurrence of joint deformity.
A significant increase in the range of motion in the joints is considered a favorable prognostic sign; in the absence of dynamics within 1 month, the chances of success of conservative treatment are significantly reduced.
Non-surgical correction of manifestations of arthrogryposis is most effective in the first six months of a child's life, with ineffectiveness at the age of 1.5-2 years, surgical treatment is indicated.
Possible complications and consequences
The main complications are irreversible deformation and complete immobilization of the affected joints.
Forecast
Widespread arthrogryposis is prognostically unfavorable, leading to the patient's disability. Throughout life, periodic treatment, rehabilitation measures in specialized institutions are necessary.
Localized arthrogryposis is completely (or to a greater extent) curable (depending on the severity of the process), provided that therapy is started on time. Since contractures and deformities are prone to recurrence, children with this diagnosis are subject to dispensary observation until the end of bone growth.
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Olesya Smolnyakova Therapy, clinical pharmacology and pharmacotherapy About the author
Education: higher, 2004 (GOU VPO "Kursk State Medical University"), specialty "General Medicine", qualification "Doctor". 2008-2012 - Postgraduate student of the Department of Clinical Pharmacology, KSMU, Candidate of Medical Sciences (2013, specialty "Pharmacology, Clinical Pharmacology"). 2014-2015 - professional retraining, specialty "Management in education", FSBEI HPE "KSU".
The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!
