THE EYE IN DYSTROPHIA MYOTONICA: WITH A REPORT ON ELECTROMYOGRAPHY OF THE EXTRA-OCULAR MUSCLES

Abstract

THOMSEN'S disease (myotonia congenita), dystrophia myotonica (myotonia atrophica), and paramyotonia are characterized by the presence of myotonia. As an isolated symptom, myotonia had already been described by Benedikt (1874) and Erb (1886) established the clinical, electrical, and histological characteristics of the combination of congenital myotonia and muscular hypertrophy which became known as Thomsen's disease. It soon became apparent that in many cases the myotonia of Thomsen's disease might be associated with atrophy of the facial muscles, the muscles of mastication, the sternomastoids, the forearm muscles, and, less often, the vasti and peronei (Jolly, 1896; Hoffmann, 1900; Rossolimo, 1902; Pelz, 1907; Hunt, 1908; and others), and this led to the suggestion that such cases were distinct from those of Thomsen's disease (Batten and Steinert (1909) also emphasized the non-muscular dystrophic aspects of the disease-baldness, testicular atrophy with reduced potency, and acrocyanosis -and these were later elaborated by Curschmann (1912). The very rare disease of paramyotonia, in which the myotonia becomes apparent only in the cold, was described by Eulenburg (1886).