STEINERT MYOTONIC DYSTROPHY CONSIDERATIONS ON A CLINICAL CASE
Abstract:
The authors present the case of a male patient, aged 32 years, diagnosed with Steinert myotonic dystrophy. The patient with a history of progressive muscle weakness and wasting in the lower limb, neck and face, gait and balance disorders, myotonic phenomena for about 10 years, addressed specialized services tardly, when chewing disorders occurred. At the time of admission he did not present significant oculo-cardio-respiratory impairment and was still professionally active. The patient reported three cases in his family with the same symptoms, two with premature, sudden death. Biological and laboratory exploration revealed elevated LDH values and electromyographic curve of myogenic type with myotonic features. Under therapy with membrane stabilizer, a slight improvement of the myotonic syndrome was observed.
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