Beyond the muscular involvement in non-dystrophic myotonias. The emerging role of neuromodulation

Simona Portaro, Antonino Naro, Alessia Bramanti, Antonino Leo, Alfredo Manuli, Tina Balletta, Antonia Trinchera, Placido Bramanti, Rocco Salvatore Calabrò

Research output: Contribution to journalArticlepeer-review


BACKGROUND: The central nervous system involvement, in terms of a maladaptive sensory-motor plasticity, is well known in patients with dystrophic myotonias (DMs). To date, there are no data suggesting a central nervous system involvement in non-dystrophic myotonias (NDMs).

OBJECTIVE: To investigate sensory-motor plasticity in patients with Myotonia Congenita (MC) and Paramyotonia Congenita (PMC) with or without mexiletine.

METHODS: Twelve patients with a clinical, genetic, and electromyographic evidence of MC, fifteen with PMC, and 25 healthy controls (HC) were included in the study. TMS on both primary motor cortices (M1) and a rapid paired associative stimulation (rPAS) paradigm were carried out to assess M1 excitability and sensory-motor plasticity.

RESULTS: patients showed a higher cortical excitability and a deterioration of the topographic specificity of rPAS aftereffects, as compared to HCs. There was no correlation among neurophysiological and clinical-demographic characteristics. Noteworthy, the patients who were under mexiletine showed a minor impairment of the topographic specificity of rPAS aftereffects as compared to those who did not take the drug.

CONCLUSION: our findings could suggest the deterioration of cortical sensory-motor plasticity in patients with NDMs as a trait of the disease.

Original languageEnglish
Pages (from-to)459-467
Number of pages9
JournalRestorative Neurology and Neuroscience
Issue number4
Publication statusPublished - 2018


  • Adult
  • Analysis of Variance
  • Anti-Arrhythmia Agents/therapeutic use
  • Electromyography
  • Evoked Potentials, Motor/drug effects
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Mexiletine/therapeutic use
  • Motor Cortex/physiology
  • Myotonia Congenita/drug therapy
  • Myotonic Disorders/physiopathology
  • Neuronal Plasticity/physiology
  • Transcranial Magnetic Stimulation
  • Young Adult


Dive into the research topics of 'Beyond the muscular involvement in non-dystrophic myotonias. The emerging role of neuromodulation'. Together they form a unique fingerprint.

Cite this