Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case study

Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterised by myotonia and bone dysplasia. It is inherited as an autosomal recessive trait and caused by mutations in the gene encoding perlecan (HSPG2). Its symptoms include muscular stiffness and hypertrophy. The aim of the study was to...

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Bibliographic Details
Main Authors: Włodzisław Kuliński, Mateusz Burak
Format: Article
Language:English
Published: Termedia Publishing House 2015-01-01
Series:Studia Medyczne
Subjects:
Online Access:http://www.termedia.pl/Problems-in-physical-therapy-and-rehabilitation-in-Schwartz-Jampel-syndrome-case-study,67,24247,1,1.html