Currently, there are many hereditary diseases associated with mechanical excitability. In addition to dystrophic myotonia, other ailments are also known, which are caused by difficulty in muscle relaxation. Such diseases include Schwarz-Jampel syndrome. (chondrodystrophic myotonia), which was discovered in 1962. With this pathology, pronounced skeletal abnormalities are observed in humans, a change in the structure of the spine and chest is observed. Often this resembles mucopolysaccharidosis, but laboratory studies of the pathology do not reveal.
Description
Schwartz-Jumpel syndrome is a hereditary disease and is expressed in pathology of the structure of the skeleton and impaired nervous and muscle excitability. The disease manifests itself in the first year of life. It becomes difficult for the child to contract and relax the muscles, as they are in constant excitement. In addition to all this, scoliosis, a short neck, dwarfism, asymmetry of the face, hernia, mental retardation and so on can be observed. In some cases, newborns may have difficulty breathing and swallowing.
Epidemiology
Schwartz-Jumpel syndrome, which usually has a short life expectancy , is very rare: approximately one case per two thousand people. Most often, the disease is observed in the countries of the Middle East, Africa and the Caucasus. This is due to the fact that there is a large number of closely related marriages. Gender, age and race in no way affect the appearance of the disease.
Causes
Since Schwartz-Jumpel syndrome is a hereditary ailment, the causes lie in genetic abnormalities. Doctors distinguish several types of the syndrome and its causes:
- Type 1A is characterized by a gene mutation in which an abnormal protein (perlecane) is formed that affects the activity of receptors that are found in various tissues, including muscle. Perlecan is synthesized in normal amounts, but it does not work well. The disease appears before the age of three years.
- Type 1B is caused by a mutation of the same gene, however, perlecane is produced in insufficient volume. The disease develops in infancy.
- Type 2 is characterized by a mutation of the null gene.
The reasons for the constant excitability of muscles are not currently known. The study of the problem continues to this day. The disease manifests itself at birth or in the first years of life. The most common is the syndrome of the first type, 98% of all patients suffer from it.
Symptoms
Schwarz-Jumpel syndrome symptoms have the following:
- short stature;
- narrow eyes;
- small mouth;
- frozen face;
- short neck;
- shortened spine;
- prolonged muscle cramps that occur as a result of movements;
- limited movement of the joints;
- decreased muscle reflexes;
- osteoporosis;
- deformation of the feet;
- hernias;
- “Duck” gait;
- lag in physical development.
The severity of symptoms may vary depending on the type of ailment.
Diagnostics
If there is concern that Schwartz-Jumpel syndrome may develop, diagnosis can be carried out even before the birth of the baby at the seventeenth or eighteenth week of pregnancy. To do this, do an ultrasound of the fetus, where abnormalities of the skeleton will be visible. A blood test is performed for AST, CPK, and LDH. When the child is six months old, you can evaluate muscle disorders using electromyography. A muscle biopsy is also performed. Doctors also conduct x-ray studies, MRI, CT. Diagnosis should be comprehensive. Distinguish Schwarz-Jumpel Syndrome from other similar diseases and making an accurate diagnosis helps genetic typing of DNA.
Treatment
Currently, it is impossible to cure this disease. Doctors recommend excluding physical stress, since it is a powerful factor that provokes the progression of pathology. Depending on the form and stage of the disease, rehabilitation measures are selected. Patients are prescribed physiotherapy exercises, massage. electrophoresis. It must be remembered that there is a risk of aspiration when eating, as spasms of the masticatory muscles constantly appear. The goal of treatment is to reduce the manifestation of muscle cramps, slow the formation of muscle contractures. To reduce the symptoms of the disease, medication is prescribed. Patients are prescribed vitamin E, butolotoxin, diacarb, carbamazepine, and more. Surgery is often performed, as bone deformation is observed.
Forecast
Schwartz-Jumpel syndrome prognosis has a disappointing. But if a patient has a type 1A disease, the disease does not affect the life expectancy. The remaining types of the disease are distinguished by the fact that the bones are prone to fractures, and breathing difficulties are observed. Malignant hyperthermia often develops. Patients constantly need medical support. Almost always, a child dies at an early age. How many live with Schwartz-Jumpel syndrome depends on the form of pathology and the presence of complications.
The risk of having a baby in a family with this disease in one of the relatives is 25%.
Thus, hereditary diseases are practically untreatable. Only symptom management is available. Life expectancy in Jampel's syndrome may be different depending on the type of disease. People suffering from this disease are on disability. They need constant psychological and social support. Often they undergo a large number of operations to eliminate bone deformities.