Cineradiographic Demonstration of Pharyngeal Area Myotonia in Myotonic Dystrophy Patients

The hereditary syndrome of myotonia and dystrophy of skeletal muscle, autonomic vascular and alimentary disorders, testicular atrophy and frontal baldness in males, and cataracts is well reported (1, 4, 9-12, 16). The myotonic dystrophy syndrome is identified e1ectromyographically by prolonged muscular contraction and a siren-like decrescendo termination. Dysphagia is described frequently in the histories of these patients (9–11, 20, 24, 25). It is recognized as a mechanism of recurrent pneumonia (17, 25) and as a major element in the later stages of the deterioration of persons with this affliction. The cineradiography of pharyngeal dysphagia associated with far-advanced myotonic dystrophy was described in two patients by Silverstein et at. (24) and in one patient by Kramer et al. (14). In each instance the disability was so far-advanced as to be essentially nonspecific in pattern and comparable to that in severe cases of amyotrophic lateral sclerosis (7, 14, 25). In the myotonic dystrophy patients of the manometric studies by Pierce et at. (16) there was extensive involvement with disability in face and limbs as well as symptomatic dysphagia. The abnormalities demonstrated were diminished resting tone of the cricopharyngeal sphincter and diminished pharyngeal and esophageal pressures during swallow. These disabilities were attributed to weakness. The subjects of the manometric studies by Siegel et at. (22) likewise had extensive involvement, with disabilities in the face and neck; 4 of their 12 patients had symptomatic dysphagia. Their manometry from the “upper esophageal sphincter” demonstrated diminished resting pressures and diminished but prolonged pharyngeal and esophageal pressures during swallowing. These abnormalities were attributed to weakness and to myotonia. In cineradiographic studies of the esophagus in 12 myotonic dystrophy patients, Hughes et at. (13) described bolus regurgitation through the pharyngoesophageal segment in 6 of the 12 In the 3 cases observed by cineradiography for this study the bulbar disability is less severe than in those previously reported. The patients distinctively exhibit myotonic distortion of the swallowassociated displacement patterns of the hyoid bone. In swallow and in speech, they also show myotonia in the tensor muscle of the palate. Because of the associated deficiency of constrictor functions, their swallows of liquid barium bolus are moderately impaired, by the criterion of retention in the pharynx. The 3 subjects of this report were selected from the clientele of a continuing study of myotonic dystrophy in the National Institute of Neurological Diseases and Blindness (9). The clinical histories and examination findings were characteristic of this disorder. The motor disorder in face, neck, and limbs was generally mild or moderate in degree. The patients were not concerned about feeding disabilities. A brief description of two is given in the legends of the figures.