Improvement of Myotonia with Carbamazepine in Three Cases with the Schwartz-Jampel Syndrome

Topaloǧlu, Haluk; Serdaroğlu, Ayşe; Okan, Mehmet; Gücüyener, K.; Topçu, Meral

doi:10.1055/s-2008-1071547

Cited by 24 publications

(12 citation statements)

References 14 publications

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“…Long term therapy is necessary but adverse effects are few. Carbamazepine may be the drug of choice in the SJS, as could be demonstrated in our Cases 1 to 4, and as has been already emphasized 23 . Cases 1 to 4 manifested improvement of myotonia and of performance for daily activities, that was marked in three, and moderate in one.…”

Section: Discussionsupporting

confidence: 50%

Schwartz-jampel syndrome: report of five cases

Reed

Reimão

Espíndola

et al. 2002

Arq. Neuro-Psiquiatr.

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-We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age had generalized stiffness and the characteristic facial as well as osteoarticular changes from birth. Other two boys with 11 and 7 years had less marked dysmorphic changes at birth and manifested myotonia, as a limiting factor, during the second year of age. A girl with two months of age had severe myotonia from birth leading to feeding diffuculties. In all cases the diagnosis was based on dysmorphic features, and on electromyographic changes showing continuous electrical activity of muscle fibers. All were treated with carbamazepine, 20-30 mg/Kg since diagnosis. The four boys (all with normal intelligence) improved of myotonia in daily activities, markedly in three, and moderately in one. The girl did not improve and showed global development delay: by the last follow-up (at 20 months of age) she did not sit unsupported, and had mental retardation. Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients.KEY WORDS: Schwartz-Jampel syndrome, myotonia, carbamazepine. Síndrome de Schwartz-Jampel: relato de cinco casosRESUMO -Descrevemos cinco pacientes com a síndrome de Schwartz-Jampel (SSJ) avaliados no Ambulatório de Doenças Neuromusculares da Divisão de Neurologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, de 1996 a 1999, com o objetivo de salientar o peculiar fenótipo dismórfico e as diferentes formas clínicas da SSJ. Dois meninos apresentavam SSJ-tipo 1A, mais branda e mais tardia, dois outros meninos apresentavam SSJ-tipo1B, de início mais precoce e dismorfismos mais limitantes, e uma menina apresentava SSJ-tipo 2, forma neonatal, com grave comprometimento, inclusive da sucção. Em todos, o diagnóstico foi baseado nos aspectos clínicos dismórficos, tanto faciais como esqueléticos, e no encontro de anormalidade eletromiográfica caracterizada como atividade elétrica contínua da fibra muscular. Todos receberam carbamazepina, em doses anticonvulsivantes de 20 a 30 mg/Kg, desde a realização da eletromiografia, que foi mantida nas consultas de seguimento, após períodos variando de 15 meses a 4 anos. Os quatro meninos, todos frequentando escola, apresentaram atenuação da síndrome miotônica; esta atenuação foi acentuada em três, notando-se nítida melhora da postura anormal, e moderada em um, que refere menor limitação nas atividades da vida diária. O quadro da menina com SSJ-tipo 2 não se modificou e a paciente manifestou retardo global do desenvolvimento, não tendo adquirido a marcha nem a linguagem por ocasião da última avaliação aos 20 meses de idade. A boa resposta dos sintomas à carbamazepina na SSJ-tipo 1 deve ser enfatizada, poi...

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Section: Discussionsupporting

confidence: 50%

Schwartz-jampel syndrome: report of five cases

Reed

Reimão

Espíndola

et al. 2002

Arq. Neuro-Psiquiatr.

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“…The clinical data of the 35 patients (17 females and 18 males) are reported in Supplementary Table S1 (available online at http://www.interscience.wiley.com/jpages/1059-7794/suppmat). Of these, 15 have already been described in the medical literature Carod-Artal et al, 2002;Horan and Beighton, 1975;Soussi-Yanicostas et al, 1991;Topaloglu et al, 1993]. Three families were previously reported to carry HSPG2 mutations [Nicole et al, 2000].…”

Section: Materials and Methods Patientsmentioning

confidence: 91%

Spectrum ofHSPG2(Perlecan) mutations in patients with Schwartz-Jampel syndrome

et al. 2006

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Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia. SJS results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. Only eight HSPG2 mutations have been reported in six SJS families. Here, we describe the molecular findings in 23 families (35 patients) with SJS, being one-third of the SJS cases reported in the medical literature. We identified 22 new HSPG2 mutations and unreported polymorphisms. Mutations included nine deletion or insertion (41%), six splice site (27%), five missense (23%), and two nonsense mutations (9%). All but four mutations were private, and we found no evidence for a founder effect. Analyses of HSPG2 messenger RNA (mRNA) and perlecan immunostaining on patients' cells revealed a hypomorphic effect of the studied mutations. They also demonstrated distinct consequences of truncating and missense mutations on perlecan expression as truncating mutations resulted in instability of HSPG2 mRNA through nonsense mRNA-mediated decay, whereas missense mutations involving cysteine residues led to intracellular retention of perlecan, probably due to quality control pathways. Our analyses strengthen the idea that SJS results from hypomorphic mutations of the HSPG2 gene. They also propose tools for its molecular diagnosis and provide new clues for the understanding of its pathophysiology.

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“…Prior to identification of the sodium channel mutation, this patient was initially diagnosed as having a myogenic type of Schwartz-Jampel syndrome because of his characteristic appearance with severe myotonia [1,11]. The confusion between Schwartz-Jampel syndrome and sodium channelopathy was previously reported in a patient with myotonia permanence caused by G1306E mutation of SCN4A [4].…”

Section: Discussionmentioning

confidence: 93%

“…Fournier et al [13] reported that combining the responses to several tests defined five electromyographic patterns that correspond to the subgroups of mutations. We applied their protocol to our patient and defined the response as pattern III [11] in which excitability is not impeded by any of the exercise trials. In their report [11], patients carrying G1306A or I693T (same locus on Nav 1.4 as ours [16]) sodium channel mutation also exhibited pattern III.…”

Section: Discussionmentioning

confidence: 99%

“…He was of Herculean stature and exhibited several characteristic features, such as low-set ears, epicanthic folds, upturned nose, a long philtrum, puckered lips, short neck, hypertropic thighs, atrophic shoulder girdle muscles, pigeon breast, and joint contracture of the elbow. Accordingly, he was initially suspected as having a myogenic type of Schwarz-Jampel syndrome [4,11]. However, immunofluorescence stain for perlecan was normal in biopsied muscle and the histology revealed a nonspecific myopathic change with increased fiber variability.…”

Section: Clinical Featuresmentioning

confidence: 94%

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