Abstract

HERRERA LORENZO, Orestes Andrés. How to evaluate a patient with myotonia. AMC [online]. 2012, vol.16, n.3, pp.353-368. ISSN 1025-0255.

Introduction: myotonia is a muscle disorder, characterized by a delayed relaxation of a skeletal muscle after a voluntary contraction or by percussion. Development: the physiopathology in the light of current knowledge regarding genetic defects associated with channelopathies is presented. Positive and differential diagnosis, classification, main clinical forms and treatment are discussed. Conclusions: despite a growing understanding of the genetic basis of these disorders, clinical features and the electro-diagnostic remain as insuperable allies in positive and differential diagnosis. On myotonia no dystrophica there are some answers, with many more questions both its medical examination and its classification and treatment.

Keywords : MYOTONIA CONGENITA [genetics]; MUSCULOSKELETAL ABNORMALITIES; REVIEW LITERATURE AS TOPIC.

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