Distriibution of electrical myotonia in myotonic muscular dystrophy

Streib, Erich W.; Sun, Sallie F.

doi:10.1111/j.1365-2044.1959.tb01668.x

Cited by 9 publications

(9 citation statements)

References 8 publications

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“…Concordance between presence of myotonia on clinical examination and the EMG results was similarly referred by others authors 4,28 . The selection and number of muscles examined are fundamental for unequivocal EMG diagnosis, as the sensitivity of diagnosis by EMG exam may vary according to this parameters 4 . However, in patients with minimal MD, molecular analysis is the gold standard for diagnosis.…”

Section: Discussionmentioning

confidence: 82%

“…Electromyography is important specially in these cases and in the evaluation of subjects at risk from MD families 4 . Detailed EMG was diagnostic in two asymptomatic relatives in our data, in whom DNA analysis was confirmatory.…”

Section: Discussionmentioning

confidence: 99%

“…Disease severity has been correlated with unstable expansion of CTG repeats in the gene encoding myotonin protein kinase in chromosome 19 2,3 . Electromyography (EMG) is a master tool for the diagnosis, but the incidence of EMG myotonia has varied in different reports because of selection and number of muscles examined and interpretation of electromyographic findings, as well as diagnostic criteria 4 . Electroneuromyography may also detect peripheral neuropathy (PN) in MD patients 5,6 .…”

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confidence: 99%

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Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion

Pfeilsticker

Bertuzzo

Nucci

2001

Arq. Neuro-Psiquiatr.

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-In myotonic dystrophy (MD), disease severity has been correlated with expansion of CTG repeats in chromosome 19. The aims of this study were to evaluate efficacy of electromyography in the diagnosis of MD, access the frequency and the characteristics of peripheral involvement in the disease and to verify whether the CTG repeats correlated with the electrophysiological abnormalities. Twenty-five patients and six relatives at risk of carrying the MD gene were examined. Electrical myotonia (EM) was scored. Sensory and motor conduction velocity (CV) were studied in five nerves. Leukocyte DNA analysis was done in 26 subjects. Myopathy and myotonia were found in 27 cases. EM was most frequent in muscles of hand and in tibialis anterior. No significant correlation was found between EM scores and length of CTG expansions. EM scores correlated significantly with the degree of clinical myopathy, expressed by a muscular disability scale. Peripheral neuropathy was found in eight subjects and was not restricted to those who were diabetics.KEY WORDS: myotonic dystrophy, electromyography, myotonia, myopathy, peripheral neuropathy, CTG repeat. Avaliação eletrofisiológica na distrofia miotônica: correlação com a expansão de tripletos CTG.RESUMO -Na distrofia miotônica (DM) a severidade da doença tem sido correlacionada com a expansão de tripletos CTG, no cromossomo 19. Foram objetivos do estudo avaliar a eficácia da eletromiografia no diagnóstico, verificar a freqüência e tipos de neuropatias periféricas e determinar se a expansão CTG correlacionava-se com as anormalidades eletrofisiológicas nesta doença. Examinamos 25 pacientes e seis familiares sob risco de herdar a doença. A miotonia elétrica (ME) foi graduada, cinco velocidades de condução sensitivas e cinco motoras estudadas. O DNA leucocitário foi analisado em 26 indivíduos. Encontrou-se miopatia miotônica em 27 pacientes, sendo a ME mais freqüente nos músculos da mão e no tibial anterior. Não houve correlação significativa entre os graus de ME e o número de repetições CTG. Os graus de ME correlacionaram-se significantemente com a severidade da miopatia clínica, expressa por escala de disfunção muscular. Neuropatia periférica foi encontrada em oito indivíduos, não exclusivamente em diabéticos. PALAVRAS-CHAVE: distrofia miotônica, eletromiografia, miotonia, miopatia, neuropatia periférica, repetição de tripletos.

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Section: Discussionmentioning

confidence: 82%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion

Pfeilsticker

Bertuzzo

Nucci

2001

Arq. Neuro-Psiquiatr.

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“…The potential advantages of using twitch or tetanic relaxation of the FDI muscle as a measure of myotonia are the following: 1) The FDI is one of the intrinsic hand muscles that manifests the earliest signs of myotonia in DM1. 11 2) Compared with some measures that require patient cooperation (e.g., quantification of grip myotonia), analysis of twitch relaxation does not require CNS input (e.g., descending voluntary commands to relax hand muscles). 3) It is also not "contaminated" by voluntary activation of antagonist muscles (e.g., voluntary use of finger extensors to "open" a myotonically closed hand).…”

Section: Twitch (Left) and Tetanic (Right) Relaxation Times (Rt) Onmentioning

confidence: 99%

Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1

et al. 2004

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“…One of the easily observed characteristics in this dystrophy is facial dysmorphism characterized by a lengthened face with involvement of the temporalis and masseter muscles (4, 5). However, studies that analyse these masticatory muscles are rare, and most information found in the literature is based on case reports (4, 6–8) or studies with limited casuistry (9–14). For example, it has been reported that myotonic dystrophy patients may have functional mandibular difficulty in opening and closing of the mouth, which have notable influence on the masticatory process and on speech.…”

Section: Introductionmentioning

confidence: 99%

Bite force and handgrip force in patients with molecular diagnosis of myotonic dystrophy

Guimarães

Carlsson

Marie

2007

J of Oral Rehabilitation

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Myotonic dystrophy is a multisystemic disease with varying symptomatology. The aim of this study was to compare the maximal bite force and handgrip force in patients with molecular diagnosis of myotonic dystrophy with those in a group of healthy individuals. It was hypothesized that these forces were reduced in the patients in comparison with the control subjects. The bite and handgrip forces of 37 patients with molecular diagnosis of myotonic dystrophy and 37 control subjects matched regarding age and gender were measured using an electronic dynamometer. The bite and handgrip forces were significantly lower in the myotonic dystrophy patient group when compared with the healthy controls (P < 0.0001). There were no significant force differences between genders, right- or left-hand side of mastication or hands in the myotonic dystrophy patient group whereas such differences were found among the controls. There were moderate but significant correlations between bite and handgrip force in both groups (r = 0.43-0.59; P < 0.01). It was concluded that there were considerable differences between the myotonic dystrophy group and the control subjects regarding both bite force and handgrip force. The weakness of the masticatory and hand muscles may have various negative consequences for oral function and dental health in patients with myotonic dystrophy.

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Distriibution of electrical myotonia in myotonic muscular dystrophy

Cited by 9 publications

References 8 publications

Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion

Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion

Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1

Bite force and handgrip force in patients with molecular diagnosis of myotonic dystrophy

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