Studies in Dystrophia Myotonica

The Eye in Dystrophia Myotonica: With a Report on Electromyography of the Extra-Ocular Muscles

“…This phenomenon was not accompanied by definite lid-lag. Histology of the Extra-Ocular Muscles in Dystrophia Myotonica In spite of the frequency of ptosis as a sign in dystrophia myotonica, a survey of most of the autopsies in the literature (Steinert, 1909;Hoffmann, 1919;Fischer, 1920;Hitzenberger, 1920;Bramwell, 1922;Adie and Greenfield, 1923;Weil and Keschner, 1927;Guillain, Bertrand, and Rouques, 1932;Keschner and Davison, 1933;Gonzalez Segura and Lanari, 1941;Aranovich, 1946;Black and Ravin, 1947;Benda and Bixby, 1947;Nadler, Steiger, Troncelleti, and Durant, 1950;den Hartog Jager, 1951;Fisch and Evans, 1954) reveals only a single histological study of an extra-ocular muscle, namely that of Wohlfart (1951), who examined the levator palpebrae superioris. He noted "accumulations and rows of nuclei in some fibres and a few scattered hypertrophic fibres with large vacuoles or a central hollow".…”

“…This lagophthalmos may well explain the chronic conjunctival injection, often described as " blepharo-conjunctivitis", from which many of these patients suffer (e.g., see Waring, Ravin, and Walker, 1940) and the occasional occurrence of keratitis (Birnbacher, 1927;Walsh, 1957). This chronic conjunctival irritation was present in eight of the ten patients examined electromyographically (vide infra).…”

Smooth Muscle Involvement in Congenital Myotonic Dystrophy

“…Large bowel anomalies are an apparently infrequent complication of myotonic dystrophy. Ptosis of transverse colon (Waring et al 1940), elongation of the sigma (Kuhn et al 1965), loss of haustration in the transverse and descending colon (Kohn et al 1964, Gleeson et al 1967) and definite megacolon (Bertrand 1949, Goldberg andSheft 1972) have been observed. Pressure recordings in the sigmoid colon by O mdahl et al (1973) gave normal results, but distinctly myotonic discharges of the striated and smooth parts of the anal sphincter muscle were found by Schuster et al (1965).…”

Myotonic Dystrophy – A Multisystem Disease Report of 67 Cases and a Review of the Literature

“…A denom ata or diffuse enlargem ent of th e th y ro id gland and low b asal m etabolism ra te were described [15,28,72]. Benda et al found resting colloid goiter an d increased w eight of the gland, b u t I 131 u p ta k e and u rin a ry o u tp u t and P B I were norm al [73].…”