Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy

V. Di Lazzaro, A. Oliviero, P. A. Tonali, L. Felicetti, M. B P De Marco, E. Saturno, F. Pilato, M. Pescatori, M. Dileone, P. Pasqualetti, E. Ricci

Research output: Contribution to journalArticlepeer-review


Previous studies found that some patients with severe, early onset facioscapulohumeral muscular dystrophy (FSHD) present epilepsy and mental retardation. This suggests a functional involvement of central nervous system in severe FSHD. It is unknown whether minor functional changes of central nervous system are also present in less severe forms of FSHD. To investigate this, we examined the excitability of neuronal networks of the motor cortex with a range of transcranial magnetic stimulation paradigms in 20 FSHD patients with heterogeneous clinical severity and compared the data with that from 20 age-matched healthy individuals and from 6 age-matched patients with other muscle diseases. There was significantly less intracortical inhibition in FSHD patients (mean responses ± SD reduced to 58.1±43.5% of the test size) than in controls (mean responses ± SD reduced to 29.3±13.5% of the test size; P=0.025) and in patients with other muscle diseases (mean responses ±SD, reduced to 30.6±11.7% of the test size; P=0.046). No significant difference was found between the control group and patients with other muscle diseases (P=0.970).

Original languageEnglish
Pages (from-to)39-45
Number of pages7
JournalNeuromuscular Disorders
Issue number1
Publication statusPublished - Jan 2004


  • Cerebral cortex
  • Facioscapulohumeral muscular dystrophy
  • GABA
  • Intracortical inhibition
  • MEP
  • Transcranial magnetic brain stimulation

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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