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Schwartz Jampel Syndrome (SJS)-One in a Million Syndrome.

Mahesh Dave¹, S R Lavanya², Renu Khamesra³

¹Professor Medicine, RNT Medical College, Udaipur, Rajasthan.

The Journal of the Association of Physicians of India

|August 3, 2020

Summary

Schwartz Jampel syndrome, a rare genetic disorder, presents with myotonia, distinct facial features, and skeletal abnormalities. This report highlights a case of this infrequent condition within the field of neurology.

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Area of Science:

Neurology
Genetics
Rare Diseases

Background:

Schwartz Jampel syndrome is a rare, genetically heterogeneous disorder.
It is characterized by myotonia, specific facial features, growth retardation, and osteoarticular changes.
The prevalence is less than 1 in 100,000, with approximately 150 cases reported globally.

Purpose of the Study:

To report a case of Schwartz Jampel syndrome.
To contribute to the limited medical literature on this rare condition.
To emphasize its relevance in neurological practice.

Main Methods:

Case report presentation.
Clinical observation and diagnostic assessment.
Review of relevant medical literature.

Main Results:

A case of Schwartz Jampel syndrome is presented.
The case exhibits the characteristic features of the disorder.
This report adds to the existing documented cases.

Conclusions:

Schwartz Jampel syndrome is an exceptionally rare disorder.
Neurological evaluation is crucial for diagnosing such rare conditions.
Further case reports are valuable for understanding and managing Schwartz Jampel syndrome.