Schwartz-Jampel syndrome type I

Schwartz-Jampel Syndrome Type I (SJS I) is a hereditary disorder that is divided into two types. These subtypes are often referred to as SJS Type I and SJS Type II. The first cases of SJS were described in 1962 by Oscar Schwartz and Robert S. Jampel. Type I is further divided into two subtypes: A and B.

Cause:
As mentioned above, this is a genetic disorder inherited in an autosomal recessive pattern. It involves a defect in the gene responsible for a type of proteoglycan, which is a component of the cell membrane, for example in cartilage cells. However, the exact mutation has not yet been identified.

Prognosis:
Most patients with SJS have a good prognosis. Muscle stiffness, muscle weakness, and muscle abnormalities may gradually worsen, but generally remain relatively stable. There is also no evidence that SJS Type I significantly shortens life expectancy.

Diagnosis:
Diagnosis is very difficult because the specific mutation in the proteoglycan gene is not known, so genetic testing is not entirely conclusive.

Treatment:
Treatment is only symptomatic in this case, focusing on reducing symptoms. Patients also require psychosocial support. Physical exercises are necessary to improve muscle activity, reduce muscle stiffness, and relieve contractures. Maintaining good posture is also important. As pharmacological therapy, Botox is used for blepharophimosis.

• Congenital blepharophimosis (a horizontally narrow palpebral fissure / narrowed eye opening)
• Muscle stiffness
• Stiffness does not disappear even during sleep
• Typical facial features, with a wrinkled or tense facial expression
• Thick eyebrows
• Symptoms appear during the first year of life
• Muscle weakness
• Minor skeletal morphological abnormalities (developmental disorders of the skeleton)