Abstract
Recent studies on Myotonic dystrophy type 1 (DM1) have shown profound impairments in gait, leading to falls. We analyzed functional ambulation profile (FAP) score that reflects the temporal and spatial gait characteristics and investigated correlations with the lower limb muscle magnetic resonance imaging (MRI) and 6 min walk test (6MWT). Twenty patients with DM1 and 20 controls participated in this study. The 6MWT and gait analysis including FAP scores via GAITRite were performed in all patients and controls. DM1 patients displayed slower gait, shorter stride length, shorter stance length, and lower FAP score. Among lower extremity muscles, the gastrocnemius, soleus and tibialis anterior showed the most severe fat infiltration and these crural muscles significantly correlated with FAP and 6MWT. Among crural muscles, tibialis anterior was the most important muscle affecting gait speed, whereas the gastrocnemius contributed substantially to gait instability. FAP score correlated with the muscle imaging and 6MWT in DM1. Therefore, FAP score maybe used as an non-invasive marker that reflects deterioration of gait and a possible surrogate biomarker in DM1.