Radiological Changes in the Skull in Dystrophia Myotonica

Abstract

in a previous endocrine study of dystrophia myotonica Caughey and Brown (1951) made reference to certain radiological abnormalities of the skull in dystrophia myotonica, and suggested that these changes should be regarded as variable features of the disorder. Since that time I have had the opportunity of studying further cases which have presented with similar radiological findings. No mention of these findings has been dis- covered in the standard textbooks, and this additional account is recorded in the hope that it may stimulate interest and establish the clinical significance of these changes by radiological study of many more cases than one observer can hope to collect. Histoxical Myotonia was first described by Leyden in 1874. In 1876 Thomsen, who himself suffered from myotonia, recorded his own symptoms and signs. The combina- tion of myotonia and muscle atrophy was described by Dana in 1888, but it is D)ldage ( In 1909 Steinert wrote a full description of the disease, and first described changes in the mental state and some of the associated dystrophic features such as pre- mature frontal baldness and gonadal atrophy. At the time, these latter findings were regarded as being merely coincidental. In 1911 Greenfield recorded the constant association of cataract in the disorder, and thereafter the other dystrophic manifestations of the disorder came to be recognized as an essential part of the clinical picture in the fully developed disorder of the "dystrophic" generation.