The phenumenon of Myotonia consist in a failure of voluntary muscles to relax immediately when voluntary innervation ceases. The stiffness is accentuated by cold and relieved by exercise, while generalized muscle weakness and atrophy (or not commonly hypertrophy of muscle) is common.
Myotonia is a feature of four principal clinical syndromes which have been classified myotonia congenita (Thomsen´s disease), myotonia atrophica (Steinert´s disease), paramyotonia and myotonia and myotonia acquisita by Walton et al.
We report here a forty six years old male of myotonia atrophica (Dystrophia myotonia; Steinert´s disease) who presents bilateral cataracts, frontal baldness, gonadal atrophy, facial myopathy, sternocleidomastoid muscle atrophy and a progressive generalized myopathy of peripheral distribution in the limbs.
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