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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
PubMed

Insights

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.

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.

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