Dystrophia myotonica is a diffuse systemic disorder in which myotonica and muscular atrophy are two salient feature. Myotonia of grip may be evident on examination and can be elicited by percussing the thenar eminence. Muscular-atrophy is usually most conspicuous in the facial muscles, the sternocleidomastoids, which may be completely atrophied, the muscles of the shoulder girdle of the forearms and hands the quadriceps and the muscles of the legs below the knees. The atrophied muscles are weak. Other systems are involved in this disorder. Cataracts, frontal baldness in the male gonadal atrophy, heart disease impaired pulmonary ventilation, mild endocrine anomalies, bone changes, mental defect, and abnormalities of the serum immunoglobulins are some of accompanying clinical manifestations.
The author studied clinically two cases of dystrophia myotonica and some emphasis was given to the diagnostic procedure to detect the disease. Endocrine aspect of the disease was deeply studied. It was interesting to note that abnormalities in symptomless heterozygotes may be detected by slit lamp examination, electromyography, and immunoglobulin concentration.
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