Open AccessSchwartz–jampel syndrome: Clinical and diagnostic phenotype of a rare genetic disorder
Author(s) -
Bhaskara P Shelley,
Vinayaka Us
Publication year - 2016
Publication title -
archives of medicine and health sciences
Language(s) - English
Resource type - Journals
eISSN - 2321-6085
pISSN - 2321-4848
DOI - 10.4103/2321-4848.196183
Subject(s) - medicine , myotonia , phenotype , genetic disorder , genetic heterogeneity , pediatrics , genetics , pathology , gene , disease , myotonic dystrophy , biology
The distinctive phenotypic, clinical, skeletal characteristics with the typical electrophysiological features of an 11-year-old male child who presented to the neurology outpatient service are described, with the objective of emphasizing the diagnostic awareness of chondrodystrophic myotonia or Schwartz–Jampel syndrome, a very rare genetic disorder. This autosomal recessive disorder due to mutations in the gene Perlecan leads to abnormal cartilage development and anomalous neuromuscular activity