CASE REPORT
Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case study
Submission date: 2014-09-05
Final revision date: 2014-10-06
Acceptance date: 2014-12-01
Publication date: 2015-01-11
Medical Studies 2014;30(4):261-264
KEYWORDS
TOPICS
ABSTRACT
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.
REFERENCES (10)
1.
Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthal 1962; 68: 52-7.
2.
Aberfeld DC, Hinterbuchner L, Schneider M. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain 1965; 88: 313-22.
3.
Viljoen D, Beighton P. Schwartz-Jampel syndrome (chondrodystrophic myotonia). J Med Genet 1992; 29: 58-62.
4.
Ho NC, Sandusky S, Madike V, et al. Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report. BMC Neurol 2003; 3: 3.
5.
Arikawa-Hirasawa E, Le AH, Nishino I, et al. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with miotonic myopathy and chondrodysplasia. Am J Hum Genet 2002; 70: 1368-75.
6.
Farrell SA, Davidson RG, Thorp P. Neonatal manifestations of Schwartz Jampel syndrome. Am J Med Genet 1987; 27: 799-805.
7.
Giedion A, Boltshauser E, Briner J, et al. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr 1997; 156: 214-23.
8.
Sguires LA, Pranglej J. Neonatal diagnosis of Schwartz Jampel syndrome with dramatic response to carbamazepine. Ped Neurol 1996; 15: 172-4.
9.
Kuliński W. Fizykoterapia. In: Fizjoterapia w pediatrii. Kuliński W (ed.) Wydawnictwo Lekarskie PZWL, Warsaw 2012; 315-50.
10.
Kuliński W. Balneoterapia. In: Fizjoterapia w pediatrii. Kuliński W (ed.) Wydawnictwo Lekarskie PZWL, Warsaw 2012; 350-9.
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| eISSN: | 2300-6722 |
| ISSN: | 1899-1874 |
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