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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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2015-01-01
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| 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 |
| _version_ | 1818331886536097792 |
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| author | Włodzisław Kuliński Mateusz Burak |
| author_facet | Włodzisław Kuliński Mateusz Burak |
| author_sort | Włodzisław Kuliński |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T13:26:58Z |
| format | Article |
| id | doaj.art-e31663f6ed92444e9c3c4d6fcb22018c |
| institution | Directory Open Access Journal |
| issn | 1899-1874 2300-6722 |
| language | English |
| last_indexed | 2024-12-13T13:26:58Z |
| publishDate | 2015-01-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Studia Medyczne |
| spelling | doaj.art-e31663f6ed92444e9c3c4d6fcb22018c2022-12-21T23:44:16ZengTermedia Publishing HouseStudia Medyczne1899-18742300-67222015-01-0130426126410.5114/ms.2014.4792524247Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case studyWłodzisław KulińskiMateusz BurakSchwartz-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.http://www.termedia.pl/Problems-in-physical-therapy-and-rehabilitation-in-Schwartz-Jampel-syndrome-case-study,67,24247,1,1.htmlrehabilitation physical therapy Schwartz-Jampel syndrome |
| spellingShingle | Włodzisław Kuliński Mateusz Burak Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case study Studia Medyczne rehabilitation physical therapy Schwartz-Jampel syndrome |
| title | Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case study |
| title_full | Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case study |
| title_fullStr | Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case study |
| title_full_unstemmed | Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case study |
| title_short | Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case study |
| title_sort | problems in physical therapy and rehabilitation in schwartz jampel syndrome case study |
| topic | rehabilitation physical therapy Schwartz-Jampel syndrome |
| url | http://www.termedia.pl/Problems-in-physical-therapy-and-rehabilitation-in-Schwartz-Jampel-syndrome-case-study,67,24247,1,1.html |
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