congenital multiple joint contractures
Introduction
Introduction to congenital multiple joint contracture Congenital multiple joint contracture is caused by muscle, joint capsule and ligament fibrosis, which causes a syndrome characterized by multiple joint stiffness throughout the body. Usually, after the patient is born, the joints of the limbs can be found to be symmetrical, more rigid in the flexion position, or stiff in the straight position, but retain the last few degrees of flexion or extension. The affected limb muscles are obviously atrophied and have a cylindrical change of the knee and elbow joints. As the normal skin texture disappears, the skin becomes bright and tense, and the patient has a puppet-like appearance. basic knowledge The proportion of illness: 0.003% Susceptible people: no specific population Mode of infection: non-infectious Complications: scoliosis
Cause
Causes of congenital multiple joint contracture
Cause:
The disease is caused by the loss of exercise capacity of the fetal limb in the uterus. It has been proven that many factors, such as the injection of certain drugs during pregnancy, and viral infections can cause the fetal limbs to lose their motor function and suffer from the disease. The pathogenic effects of certain viruses such as Newcastle virus, Akabane virus and Coxsackie virus on this disease have been demonstrated in animal experiments.Prevention
Congenital multiple joint contracture prevention
The disease is a congenital disease, no effective preventive measures, early diagnosis and early treatment is the key to the prevention and treatment of this disease, the goal of treatment is to enable patients to obtain basic life functions, such as the simple living self-care function of the hand, and the vertical walking of the lower limbs.
Complication
Congenital multiple joint contracture complications Complications scoliosis
When the lower limbs are involved, the foot often has a deformity of the plantar flexion, knee flexion or extension, hip flexion and external rotation, abduction, or hip flexion-adduction contracture with dislocation, and 20% of patients There are late C-shaped scoliosis. Upper limb malformation includes internal rotation of shoulder joint, flexion or extension of elbow joint, dislocation of humeral head, flexion contracture of forearm pronation and wrist joint, multiple adduction of thumb, flexion close to palm and proximal toe Joint flexion contracture.
Symptom
Congenital multiple joint contracture symptoms Common symptoms Muscular dysplasia ischemic contracture joint contracture facial deformity toe flexion contracture joint deformity
The clinical manifestations of this disease are very complicated, and Hall divides the disease into three categories according to the extent of the lesion.
(1) The first type only affects the joints of the extremities, accounting for about 50%. It can also be a subtype of muscle dysplasia and distal joint contracture. The former is a typical joint contracture, usually found after the patient is born. The joints of the extremities are symmetric and stiff, and the stiffness is in the flexion position. It can also be rigid in the extension position, but retains the last few degrees of flexion or extension. The affected limb muscles are obviously atrophied and have knee and elbow joints. The normal skin texture disappears, the skin is bright and tense, and the patient has a puppet-like appearance. When the joint is contracted in the flexion position, the skin and subcutaneous tissue can form a sickle-like deformity, and the skin feels normal, but the deep tendon reflex is weakened or disappeared, although the limbs Can be affected, but all limbs are affected by 46%, double lower limbs accounted for 43%, simple upper limb involvement accounted for 11%, when the lower limbs are involved, the foot is often varus varus deformity, knee flexion or straightening, hip joint Flexion-external rotation, abduction, or hip flexion-adduction contracture with dislocation, and 20% of patients have advanced C-shaped scoliosis, upper extremity deformities including shoulder internal rotation, elbow flexion or straightening, Dislocation of the humeral head, forearm pronation and wrist flexion contracture, thumb adduction, flexion close to the palm with proximal interphalangeal joint flexion contracture, distal limb contracture only involving the hands and feet, the thumb flexed, adducted across the palm The remaining four fingers are flexed in a fist shape, and the fingers overlap each other. The deformity of the foot refers to the varus varus, and it can also be a deformed foot with a valgus, accompanied by toe flexure contracture.
(2) The second type is joint contracture with visceral and head and face deformities. In addition to joint contracture, there are other parts of the deformity, such as Marfan syndrome, Freemam-Sheldon syndrome, pterygium syndrome.
(3) The third type is joint contracture with abnormal nervous system, joint contracture with severe nervous system abnormalities, such as triploid 18,9,8, brain malformation, meningocele, etc., usually autosomal abnormalities, can pass Peripheral blood karyotypes are diagnosed, but infants die early.
Examine
Examination of congenital multiple joint contracture
There are two main methods for examining this disease:
(1) Microscopic examination: under the microscope, the number of muscle fibers is small, the diameter of muscle fibers is reduced, but the transverse stripes are retained, the initial articular cartilage can be completely normal, and the older children have articular cartilage destruction, and degenerative changes occur, and the joint capsules of the affected joints It is also thickened by fibrosis.
(2) X-ray examination: the patient may be found to have joint adduction, varus, etc., as well as other bone and joint deformities.
Diagnosis
Diagnosis and diagnosis of congenital multiple joint contracture
For patients with typical signs of the disease, such as limb muscle atrophy, the joints are symmetrically contracted, and the skin feels normal and easy to make a diagnosis, but the distal extremity of the limbs, the deformity of the hands and feet is more slowly aggravated, especially those who are later treated. Need to be associated with rheumatoid arthritis, congenital bone and joint deformity, but this type of patient's hand and foot malformation is also a symmetrical distribution, the characteristics of this disease, but laboratory tests are often found without abnormalities.
