Schwarz-Jampel syndrome
Schwarz-Jampel syndrome is a hereditary disease that manifests itself in multiple skeletal anomalies and is accompanied by disruptions in the process of neuromuscular excitability. Patients face difficulties in relaxing the contracted muscles, against the background of their increased excitability (both mechanical and electrical), which is the main symptom of pathology.
The syndrome was first described in 1962 by two doctors: R. S. Jampel (neuro-ophthalmologist) and O. Schwartz (pediatrician). They observed two children, a brother and a sister, aged 6 and 2 years. The children had symptoms characteristic of the disease (blepharophimosis, double row of eyelashes, bone deformities, etc.), which the authors associated with genetic abnormalities.
Another neurologist D. Aberfeld made a significant contribution to the study of this syndrome, who pointed out the propensity of pathology to progress, and also focused on neurological symptoms. In this regard, such names of the disease as: Schwarz-Jampel syndrome, chondrodystrophic myotonia are often found.
Schwarz-Jampel syndrome is recognized as a rare disease. It is customary to refer to rare diseases as those diseases that are diagnosed no more often than 1 case in 2000 people. The prevalence of the syndrome is a relative value, since the life of most patients is short enough, and the disease itself is very difficult and it is often diagnosed by doctors who do not have knowledge of hereditary neuromuscular pathology.
It has been established that the most common Schwarz-Jampel syndrome occurs in the Middle East, the Caucasus and South Africa. Experts attribute this fact to the fact that it is in these countries that the number of closely related marriages is higher than in the whole world. At the same time, gender, age, race has no effect on the frequency of occurrence of this genetic disorder.
Content:
- Causes of Schwarz-Jampel Syndrome
- Symptoms of Schwarz-Jampel Syndrome
- Diagnostics of the Schwarz-Jampel syndrome
- Treatment of Schwarz-Jampel syndrome
Causes of Schwarz-Jampel Syndrome
The causes of Schwarz-Jampel syndrome are genetic disorders. It is assumed that this neuromuscular pathology is determined by an autosomal recessive mode of inheritance.
Depending on the phenotype of the syndrome, experts identify the following reasons for its development:
- The classic type of Schwarz-Jampel syndrome is type 1A. Inheritance occurs in an autosomal recessive manner, it is possible to give birth to twins with this pathology. The HSPG2 gene located on chromosome 1p34-p36.1 undergoes mutation. Patients develop a mutated protein that affects the functioning of receptors located in a wide variety of tissues, including muscle tissue. This protein is called perlecan. In the classical form of the disease, mutated perlecan is synthesized in normal volumes, but it functions poorly.
- Type 1B Schwarz-Jampel Syndrome. Inheritance occurs in an autosomal recessive manner, the same gene on the same chromosome, but perlecan is synthesized in insufficient quantities.
- Type 2 Schwarz-Jampel syndrome. Inheritance also occurs in an autosomal recessive manner, but the null LIFR gene located on chromosome 5p13.1 mutates.
However, the reason why muscles in Schwarz-Jampel syndrome are in constant activity at this point in time is not well understood. It is believed that the mutated perlecan disrupts the function of muscle cells (their basement membranes), but the occurrence of skeletal and muscle abnormalities has not yet been explained. In addition, another syndrome (Stuv-Wiedemann syndrome) has a similar symptomatology in terms of muscle defects, but the perlecan is not affected. In this direction, scientists still continue to conduct active research.
Symptoms of Schwarz-Jampel Syndrome
The symptoms of Schwarz-Jampel syndrome were isolated from all available case reports in 2008.
The clinical picture is characterized by the following features:
- The patient's height is below average;
- Prolonged tonic muscle spasms that occur following voluntary movements;
- The face is frozen, "sad";
- The lips are compressed tightly, the lower jaw is small;
- The eye slits are narrow;
- The hairline is low;
- The face is flattened, the mouth is small;
- Joint movements are limited - this applies to the interphalangeal joints of the feet and hands, the spinal column, hip joints, wrist joints;
- Muscle reflexes are reduced;
- Skeletal muscles are hypertrophied;
- The vertebral table is shortened;
- The neck is short;
- Dysplasia of the hip joints is diagnosed;
- Osteoporosis is present;
- The arches of the feet are deformed;
- The voice of the sick is thin and high;
- Vision is impaired, the palpebral fissure is shortened, the eyelids at the outer corner of the eye are spliced, the cornea is small, myopia and cataracts are often present;
- The eyelashes are thick, long, their growth is disorderly, sometimes there are two rows of eyelashes;
- The ears are set low;
- Often in children, a hernia is found - inguinal and umbilical;
- Boys have small testicles;
- The gait is waddling, duck, there is often a clubfoot;
- While standing and while walking, the child is in a semi-squat;
- The patient's speech is indistinct, unclear, salivation is characteristic;
- The mental faculties are impaired;
- There is a lag in growth and development;
- Bone age is less than the passport age.
In addition, the symptoms of Schwarz-Jampel syndrome differ depending on the phenotype of the disease:
Phenotype 1A - symptoms
Phenotype 1A is characterized by early manifestation of the disease. This occurs before the age of 3 years. The child has moderate difficulty swallowing and breathing. There are contractures on the joints, which can be present both from birth and be acquired. The patient's thighs are short, kyphoscoliosis and other anomalies of the skeleton are pronounced.
The child's mobility is low, which is explained by the difficulties in performing the movements. The face is motionless, resembles a mask, lips are compressed, mouth is small.
The muscles are hypertrophied, especially the thigh muscles. When treating children with the classic course of Schwarz-Jampel syndrome, one should take into account the high risk of developing anesthetic complications, especially malignant hyperthermia. It occurs in 25% of cases and is fatal in 65-80% of cases.
Mental disorders range from mild to moderate. At the same time, 20% of such patients are recognized as mentally retarded, although there are descriptions of clinical cases when the intelligence of people was quite high.
A decrease in myotonic syndrome is observed when taking Carbamazepine.
Phenotype 1B - symptoms
The disease develops during infancy. Clinical signs are similar to those observed in the classic course of the disease. The difference is that they are more pronounced. First of all, this concerns somatic disorders, especially the patient's breathing suffers.
Skeletal anomalies are rougher, bones are deformed. The appearance of the patients resembles those with Knist's syndrome (shortened trunk and lower limbs). The prognosis for this phenotype of the disease is unfavorable, patients often die at an early age.
Phenotype 2 - symptoms
The disease manifests itself at the birth of a child. Long bones are deformed, growth rates are slowed down, the course of pathology is severe.
The patient is prone to frequent fractures, characterized by muscle weakness, breathing and swallowing disorders. Children often develop spontaneous malignant hyperthermia. The prognosis is worse than in phenotypes 1A and 1B, the disease most often ends with the death of the patient at an early age.
Features of the clinical course of the disease in childhood:
- On average, the disease debuts in the first year of a child's life;
- The child has difficulty sucking (begins to suck after a certain period of time after latching to the breast);
- Low motor activity;
- It can be difficult for a child to immediately take the object that he is holding from his hands;
- Intellectual development can be preserved, violations are observed in 25% of cases;
- Most of the patients graduate from school successfully, and the children attend a general educational institution, and not specialized educational institutions.
Diagnostics of the Schwarz-Jampel syndrome
Perinatal diagnosis of Schwarz-Jampel syndrome is possible. For this, ultrasound of the fetus is used, during which skeletal anomalies, polyhydramnios, and impaired sucking movements are detected. Congenital contractures can be visualized at 17-19 weeks of gestation, as well as shortening or deformity of the hip.
Biochemical analysis of blood serum gives a slight or moderate increase in LDH, AST and CPK. But against the background of self-developing or provoked malignant hyperthermia, the CPK level increases significantly.
To assess muscle disorders, electromyography is performed, and the changes will be noticeable already after the child reaches six months of age. A muscle biopsy is also possible.
Spinal kyphosis, osteochondrodystrophy is diagnosed by X-ray examination. Lesions of the musculoskeletal system are clearly visible during MRI and CT. These two diagnostic methods are used most often by modern doctors.
It is important to carry out differential diagnostics with such diseases as: Knist's disease, Pile's disease, Rolland-Desbukvois dysplasia, congenital myotonia of the first type, Isaacs syndrome. Such a modern diagnostic method as genetic DNA typing allows to differentiate pathologies.
Treatment of Schwarz-Jampel syndrome
At this point in time, there is no pathogenetic treatment for Schwarz-Jampel syndrome. Doctors recommend that patients adhere to the daily regimen, limit or completely eliminate physical overstrain, since it is a powerful factor that stimulates the progression of pathology.
As for the rehabilitation of patients, these measures are selected on an individual basis and will vary depending on the stage of the disease. Patients are recommended physical therapy with dosed and regular physical activity.
As for nutrition, you should exclude foods that contain a large amount of potassium salts - these are bananas, dried apricots, potatoes, raisins, etc. The diet should be balanced, rich in vitamins and fiber. Dishes should be offered to the patient in the form of puree, in liquid form. This will minimize the difficulty in chewing food, which occurs as a result of spasm of the facial muscles and masticatory muscles. In addition, one should be aware of the risk of aspiration of the airways with a food lump, which can lead to the development of aspiration pneumonia. Also, the progression of the disease is influenced by the use of cold drinks and ice cream, swimming in cold water.
The benefits of physiotherapy treatments for the syndrome should not be underestimated
Schwarz-Jampel. Tasks for a physiotherapist:
- Reducing the severity of myotic manifestations;
- Training of the extensor muscles of the legs and arms;
- Stopping or slowing down the formation of bone and muscle contractures.
Various baths (salt, fresh, pine) are effective, lasting 15 minutes daily, or every other day. Local baths with a gradual increase in water temperature, ozokerite and paraffin applications, exposure to infrared rays, gentle massage and other procedures are useful.
Recommendations regarding sanatorium-resort treatment are as follows: to travel to areas whose climate is as close as possible to the usual conditions in which the patient lives, or to visit areas with a mild climate.
To reduce the severity of the symptoms of the disease, the following medications are indicated:
- Antiarrhythmic drugs: Quinine, Difenin, Quinidin, Quinor, Cardioquin.
- Acetazolamide (Diacarb) is taken orally.
- Anticonvulsants: Phenytoin, Carbamazepine.
- Topically administered botulinum toxin.
- Muscle nutrition is supported by taking vitamin E, selenium, taurine, coenzyme Q10.
With the development of bilateral blepharospasm and in the presence of bilateral ptosis, ophthalmic surgery is recommended for patients. Progressive bone deformities, the occurrence of contractures - all this leads to the fact that patients will have to go through several orthopedic operations. Due to the risk of developing malignant hyperthermia in childhood, drugs are administered rectally, orally, or intranasally. The operation requires a prior premedication with barbiturates or benzodiazepines.
The classical course of the disease according to phenotype 1A has no significant effect on the patient's life expectancy. The risk of having a child in a family with a burdened history is equal to 25%. Patients need psychological and social support. In addition, the patient should be managed by such specialists as: geneticist, cardiologist, neurologist, anesthesiologist, orthopedist, pediatrician. If there are speech disorders, then classes with a speech therapist-defectologist are shown.
Article author: Mochalov Pavel Alexandrovich | d. m. n. therapist
Education: Moscow Medical Institute. IM Sechenov, specialty - "General Medicine" in 1991, in 1993 "Occupational Diseases", in 1996 "Therapy".
