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

Włodzisław Kuliński; Mateusz Burak

doi:10.5114/ms.2014.47925

eISSN: 2300-6722
ISSN: 1899-1874

Medical Studies/Studia Medyczne

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abstract:

Case report

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

Włodzisław Kuliński

,

Mateusz Burak

Studia Medyczne 2014; 30 (4): 261–264

DOI: https://doi.org/10.5114/ms.2014.47925

Online publish date: 2015/01/11

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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 analyse the clinical presentation as well as the physical therapy and rehabilitation in a patient with SJS. A 16-year-old patient with SJS has been followed up by the authors for the last 2 years. We assessed the physical therapy and rehabilitation conducted at home and presented the possibilities of an extended programme that can be implemented at the multi-field Division of Physical Medicine. Patients with SJS represent an extremely difficult clinical and therapeutic problem.

keywords:

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

Włodzisław Kuliński , Mateusz Burak

rehabilitation, physical therapy, Schwartz-Jampel syndrome

Włodzisław Kuliński

,

Mateusz Burak