Paving the way for a better understanding of the pathophysiology of gait impairment in myotonic dystrophy: A pilot study focusing on muscle networks

Antonino Naro, Simona Portaro, Demetrio Milardi, Luana Billeri, Antonino Leo, David Militi, Placido Bramanti, Rocco Salvatore Calabrò

Research output: Contribution to journalArticlepeer-review


Background: A proper rehabilitation program targeting gait is mandatory to maintain the quality of life of patients with Myotonic dystrophy type 1 (DM1). Assuming that gait and balance impairment simply depend on the degree of muscle weakness is potentially misleading. In fact, the involvement of the Central Nervous System (CNS) in DM1 pathophysiology calls into account the deterioration of muscle coordination in gait impairment. Our study aimed at demonstrating the presence and role of muscle connectivity deterioration in patients with DM1 by a CNS perspective by investigating signal synergies using a time-frequency spectral coherence and multivariate analyses on lower limb muscles while walking upright. Further, we sought at determining whether muscle networks were abnormal secondarily to the muscle impairment or primarily to CNS damage (as DM1 is a multi-system disorder also involving the CNS). In other words, muscle network deterioration may depend on a weakening in signal synergies (that express the neural drive to muscles deduced from surface electromyography data). Methods: Such an innovative approach to estimate muscle networks and signal synergies was carried out in seven patients with DM1 and ten healthy controls (HC). Results: Patients with DM1 showed a commingling of low and high frequencies among muscle at both within- and between-limbs level, a weak direct neural coupling concerning inter-limb coordination, a modest network segregation, high integrative network properties, and an impoverishment in the available signal synergies, as compared to HCs. These network abnormalities were independent from muscle weakness and myotonia. Conclusions: Our results suggest that gait impairment in patients with DM1 depends also on a muscle network deterioration that is secondary to signal synergy deterioration (related to CNS impairment). This suggests that muscle network deterioration may be a primary trait of DM1 rather than a maladaptive mechanism to muscle degeneration. This information may be useful concerning the implementation of proper rehabilitative strategies in patients with DM1. It will be indeed necessary not only addressing muscle weakness but also gait-related muscle connectivity to improve functional ambulation in such patients.

Original languageEnglish
Article number116
JournalJournal of NeuroEngineering and Rehabilitation
Issue number1
Publication statusPublished - Sep 18 2019


  • Gait
  • Multivariate analysis
  • Muscle networks
  • Myotonic dystrophy type 1
  • Signal synergies
  • Time-frequency analysis

ASJC Scopus subject areas

  • Rehabilitation
  • Health Informatics


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