Quantification of mobility impairment and self-assessment of stiffness in patients with myotonia congenita by the physiotherapist

Abstract

We investigated test-retest reliability and responsiveness in two functional measuring instruments, Timed Up&Go (TUG) and Timed-Stands Test (TST), and in three self-assessment scales, Visual Analogue Scale (VAS), Borg's Category-Ratio Scale (BorgCR10) and Myotonia Behaviour Scale (MBS) when quantifying myotonic stiffness and mobility impairment. These methods were used in the assessment of treatment efficacy of mexiletine. Six male patients with myotonia congenita followed a standardised protocol with time scoring and rest on two occasions, with and without mexiletine. Time scoring of TUG and TST and self-assessments of stiffness were performed. A 14-day stiffness diary was used at home. Timed Up&Go and TST showed very good test-retest agreement (ICC=0.87-0.95) and significant to change (P=0.005 and 0.001, respectively). All self-assessment scales revealed excellent responsiveness and good test-retest reliability. The measurement instruments possess great capacity to detect functional impairment in the myotonia congenita patient group, and sensibility to identify true changes due to treatment. When considering the results, three instruments are favoured; Timed Up&Go and BorgCR10 for short, and MBS for long-term evaluations.