Stapedial reflex in myotonic dystrophy type 1 and CTG repeat expansion

The severity of clinical symptoms of myotonic dystrophy type 1 (DM1) has been shown to be closely related to the size of a CTG triplet repeat in the gene encoding myotonin protein kinase. Neuro-otological examinations that include eye movement and stapedial reflex (SR) tests can contribute to the quantitative evaluation of muscular involvement in DM1. We previously found that saccadic eye movement velocity in DM1 patients was significantly lower than that in control subjects and that the saccadic velocity and size of the CTG triplet repeat in DM1 patients had a strong inverse correlation. We now report a case-control study that compared the SR wave form (latency: L, contraction time: C50, and relaxation time: D50) measured by the acoustic impedance method in 13 patients with DM1 and in 14 control subjects matched for age and sex. The correlation between the SR wave form and CTG repeat length in DM1 patients obtained by Southern blot analysis with EcoRI was also examined. We found (1) no significant difference between the pure tone audiometric threshold at 500 Hz in the DM1 patients and that in the control subjects; (2) or between the SR thresholds in the patients and controls (500 Hz stimuli); (3) C50 and D50 in DM1 patients to be significantly prolonged, whereas L was not; (4) C50 and D50 in DM1 patients to be significantly correlated with CTG repeat length, whereas L was not. Measurement of SR by the acoustic impedance method is completely non-invasive, causes no discomfort to the subject, and does not depend on the person's effort or cooperation. Our findings show that SR measurement can be used for a quantitative evaluation of muscle involvement in DM1. We believe that the prolongation of D50 in DM1 is caused by myotonia, which has to be confirmed by further clinical and pathological studies.