Avaliação eletrofisiológica na distrofia miotônica: correlação com a expansão de tripletos CTG
| Autor: | Beatriz Helena Miranda Pfeilsticker, Anamarli Nucci, Carmen Silvia Bertuzzo |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2001 |
| Předmět: |
musculoskeletal diseases
Adult medicine.medical_specialty electromyography miotonia peripheral neuropathy neuropatia periférica Adolescent distrofia miotônica Electromyography Myotonic dystrophy Severity of Illness Index Nerve conduction velocity Statistics Nonparametric lcsh:RC321-571 miopatia Chromosome 19 Internal medicine Severity of illness Medicine Humans Myotonic Dystrophy Prospective Studies Myopathy Child lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry CTG repeat myotonic dystrophy medicine.diagnostic_test business.industry eletromiografia repetição de tripletos medicine.disease Myotonia Surgery Peripheral neuropathy myotonia Neurology Cardiology Neurology (clinical) medicine.symptom business Trinucleotide Repeat Expansion myopathy |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Volume: 59, Issue: 2A, Pages: 186-191, Published: JUN 2001 Scopus-Elsevier Arquivos de Neuro-Psiquiatria, Vol 59, Iss 2A, Pp 186-191 (2001) Arquivos de Neuro-Psiquiatria v.59 n.2A 2001 Arquivos de neuro-psiquiatria Academia Brasileira de Neurologia instacron:ABNEURO |
| Popis: | 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. 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. |
| Databáze: | OpenAIRE |
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