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. 2023 Nov:39 Hors série n° 1:37-46.
doi: 10.1051/medsci/2023133. Epub 2023 Nov 17.

[The Schwartz-Jampel syndrome]

[Article in French]
J Andoni Urtizberea  1 , Gianmarco Severa  1 , Juliette Ropars  1 , Edoardo Malfatti  1
Affiliations
Free article

[The Schwartz-Jampel syndrome]

[Article in French]
J Andoni Urtizberea et al. Med Sci (Paris). 2023 Nov.
Free article

Abstract
in English, French

The Schwartz-Jampel syndrome (SJS, OMIM #255800) is an ultra-rare genetic disease characterized by myotonic manifestations combined with bone and cartilage abnormalities. Following an autosomal recessive mode of inheritance, its prevalence is more significant in highly-inbred areas. The unraveling of the HSPG2 gene encoding a protein of the basal lamina enabled a better nosological delineation of the syndrome. The diagnosis is usually strongly suspected at the clinical level and then confirmed by molecular biology. To date, the treatment remains essentially symptomatic.

Title: Le syndrome de Schwartz-Jampel.

Abstract: Le syndrome de Schwartz-Jampel (SJS, OMIM #255800) est une affection génétique ultra-rare définie par des manifestations myotoniques et des anomalies ostéo-articulaires. Transmis selon un mode autosomique récessif, sa prévalence est plus élevée dans les zones de forte endogamie. La découverte du gène HSPG2 codant une protéine de la lame basale a permis de mieux en délimiter les contours nosologiques. Le diagnostic est généralement très fortement suspecté cliniquement puis confirmé en biologie moléculaire. Le traitement reste à ce jour essentiellement symptomatique.

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References

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