What is Schwartz Gempel syndrome?

Schwartz-Jampel syndrome, with its medical name (Schwartz-Jampel syndrome) which is abbreviated as "SJS", is a rare genetic and hereditary disorder that causes abnormalities in the body's skeletal muscles. Although this syndrome is very rare, genetic mutations and hereditary disorders of the HSP2 gene are the main cause of this disease. Vital, which affects the formation of cartilage and bone.

This disease was first introduced in 1962 by two doctors named "Oscar Schwartz" and "Robert Gempel", that's why the name of this syndrome was named Schwartz-Gempel syndrome in honor of its discoverers, who researched the relationship between this disease and the perlican protein.

Now, to learn more about this rare but serious syndrome caused by the genetic disorder of the parents and the ways to prevent it, stay with us in this article from the blog "GCORP LLC... knowing such information has a great impact in preventing the birth of babies with a genetic disorder or its subsequent complications.

Form of bone abnormality in Schwartz Gempel syndrome

As mentioned, this disorder is caused by the hereditary factors of the parents, in the genetic mutation "HSPG2", which causes abnormalities in the body, including the following:

myotonic myopathy (muscle weakness, inability to move, stiffness and stiffness in movement)
Bone dysplasia (absence of normal bone growth)
joint contractions (limited mobility, muscle stiffness and body dryness)
Dwarf (very short)

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Types of Schwartz-Gampel syndrome

This syndrome has different types as follows:

Classic Schwartz-Gampel syndrome or syndrome type I

This disorder is also known as the classic Schwartz Gempel syndrome.... This disorder, which is related to the genetic abnormality in chromosome 1, appears in two ways:

Type IA that appeared after childhood and its symptoms are less severe and do not cause much disturbance.
Type IB that manifests itself at birth or childhood and during development and has severe symptoms.

Schwartz-Gampel syndrome type II or II

This disorder appears immediately at birth and its symptoms are somewhat different between type IA and IB of the classic Schwartz Gempel syndrome... According to experts, this disease is very similar to "Stuve-Wiedermann" syndrome, a similar rare skeletal disease.

Steve-Wiederman syndrome usually causes the death of babies in the first few months of life due to breathing problems.

It should be noted that the difference between Schwartz Gempel syndrome type 1 and type 2 is due to the lack of effect of type 2 on chromosome number 1.

Symptoms of Schwartz-Gampel syndrome

The most obvious symptom of this syndrome is stiffness and difficulty in movement... This stiffness and stiffness is not similar to people with muscle cramps and in fact cannot be treated with medication or even rest... Other common symptoms of Schwartz Gempel syndrome disorder include the following:

Short stature or limbs such as hands, feet, or abnormal skull size
Flat face (Mongolian face), narrow eyes and small and angular jaw
Changing the shape of the neck, removing the spine from its natural position and curvature (kyphosis)
Excessive breast protrusion, which is called "pectus carinatum".
vision disorder or eye abnormality

Ways to diagnose Schwartz Gempel syndrome disorder

This syndrome manifests itself in the early years and during the child's growth, for this reason, many parents should massage their child daily and simultaneously with other activities in consultation with a doctor or midwife to ensure the health of their child's body. By doing this, even during diapering, you can quickly diagnose the child's stiffness or movement problem and take measures to treat and reduce its complications.

Be careful that Schwartz Gempel syndrome disorder is different in different people and it depends on the scope of the body's involvement with this syndrome and the severity of its symptoms.

If you notice unusual stiffness in the child's movements or any of the symptoms mentioned above, see a specialist immediately and get treatment.

After the physical examination, the doctor usually prescribes tests, including the following, to get a better conclusion:

X-ray photography
Sampling of muscles
blood test
muscle enzyme test
testing muscle and nerve movements in children
Genetic testing for parents and children to detect the defective gene

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Prevention is always better than cure.. In the case of Schwartz Gempel syndrome, it should also be noted that in rare cases, this disorder can be diagnosed during pregnancy and even before it. Midwife.

Why do children get Schwartz-Gampel syndrome?

Schwartz-Jempel syndrome is inherited from parents to children in an autosomal recessive manner... In simple words, if a person is born with such a syndrome, it means that both parents are carriers of defective genes... This is why many doctors advise couples who plan to have children to do genetic testing before pregnancy.

The life expectancy of people with Schwartz-Gampel syndrome type 1 is high and these people have an almost normal life expectancy. The prevalence statistics do not differ between men and women, and the only noteworthy point in this field is the observation of a large number of people with Schwartz-Gampel syndrome type 2 in Arab races..

How is Schwartz Gempel syndrome treated?

There is no cure for this syndrome, so you should focus on reducing the complications and symptoms afterwards.... Usually, after the final diagnosis, the doctor uses special drugs for muscle disorders such as Tegretol (carbamazepine) or anti-arrhythmic drugs mexiltine to reduce the symptoms and complications in the patient.>

The possibility of muscle abnormalities becoming more severe with age in people with this disorder is very high... With age and with the passage of time, this disorder becomes more severe and a person may need to use movement tools, assistance, nurses or even surgery... The most common methods of controlling this disease include the following:

The simplest way to reduce the effects of this syndrome is to massage the muscles daily, warm up the body, stretch and move slowly so that the bones and muscles do not lose their texture and form.
Surgery to treat and correct skeletal disorders such as kyphosis (abnormal curvature of the spine) and bone dysplasia
Participating in daily or weekly physiotherapy sessions
If the patient has vision problems or eye abnormalities, surgery or corrective glasses, lenses or eyelid botox and other methods are used to improve the disease.

Conclusion

Although Schwartz Gempel syndrome is a rare genetic disorder, the possibility of it cannot be ignored. Therefore, it is very important that the mother is under the supervision of a specialist doctor during pregnancy, and after that the child is always taken to a special doctor for examination. href="https://gcorp.cc/">GCORP LLC".

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