Multidisciplinary Approach to the Treatment of a Patient With Chondrodystrophic Myotonia (Schwartz-Jampel vel Aberfeld Syndrome)

Abstract

Chondrodystrophic myotonia, Schwartz-Jampel syndrome, is a rare congenital disorder, which results from disturbance in a perlecan protein synthesis. Most affected are the muscles, acting in generalized myotonia, leading to joint contractures, weird-looking mask-like face appearance, and causing vision disturbances. Also, impaired bones and cartilages result in skeletal anomalies and dental disorders. Allergic reactions to numerous drugs occur in affected individuals. Surgical treatment is risky, due to a low tolerance of anesthetics and high risk of malignant hyperthermia. In this article, a case of 17-year-old girl with Schwartz-Jampel syndrome is presented. The patient with typical syndrome debilitations underwent long diagnostic scheme and multiple treatments in order to restore acceptable appearance and function. All procedures were performed with cautious anesthesiologists' supervision. Modern diagnostic tools can improve the diagnosis rate while multidisciplinary evaluation and advanced treatment techniques can reveal symptoms, minimizing the hazard of anesthesia and improving the quality of life.

Schwartz–Jampel syndrome with gastroduodenal bleeding

“…[1] Muscle stiffness and weakness with hypertrophy are the most striking findings that frequently appear within the first year of life. [23] Genetic analysis reveals mutation of the HSPG2 gene which codes perlecan protein.…”

“…[23] Genetic analysis reveals mutation of the HSPG2 gene which codes perlecan protein. [13] The diagnosis is based on clinical features. Blood test may reveal mildly elevated creatine kinase.…”

“…[1] Muscle stiffness and weakness with hypertrophy are the most striking findings. [23] The diagnosis is based on clinical features.…”

“…[24] Genetic analysis reveals mutation of the heparan sulfate proteoglycan 2 (HSPG2) gene which encodes perlecan protein. [13] The stable endothelial barrier is provided by perlecan which is an important component of vascular structures. [56] Recurrent gastroduodenal bleeding is not a previously reported feature.…”

Schwartz-Jampel Syndrome: a paediatric dentistry approach

“…The skeletal malformations affect the jawbones, causing micrognathia and palate constriction, which lead to impaction, displacement and/or crowding of teeth and malocclusion [1]. The primary features of SJS manifest within the first years of life, ranging in severity from mild myotonia with a few bone anomalies, which can only be detected radiographically to more severe problems which may lead to death [3][4][5][6].…”