Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

Salvatore Rossi, Angela Romano, Anna Modoni, Francesco Perna, Valentina Rizzo, Massimo Santoro, Mauro Monforte, Maurizio Pieroni, Marco Luigetti, Maria Grazia Pomponi, Gabriella Silvestri

Research output: Contribution to journalArticle


Myotonic dystrophy type 2 (DM2) is an autosomal dominant muscular dystrophy caused by the expansion of an intronic tetranucleotide CCTG repeat in CNBP on chromosome 3. As DM1, DM2 is a multisystem disorder affecting, beside the skeletal muscle, various other tissues, including peripheral nerves. Indeed, a subclinical involvement of peripheral nervous system has been described in several cohorts of DM2 patients, whereas DM2 patients manifesting clinical signs and/or symptoms of neuropathy have been only rarely reported. Here, we describe 2 related DM2 patients both of whom displayed an atypical disease onset characterized by dysautonomic symptoms, possibly secondary to peripheral neuropathy.

Original languageEnglish
Pages (from-to)166-170
Number of pages5
JournalEuropean Neurology
Publication statusPublished - Mar 13 2018


  • Dysautonomia
  • Fluorescent in situ hybridization
  • Myotonic dystrophy type 2
  • Nerve biopsy
  • Peripheral neuropathy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Rossi, S., Romano, A., Modoni, A., Perna, F., Rizzo, V., Santoro, M., Monforte, M., Pieroni, M., Luigetti, M., Pomponi, M. G., & Silvestri, G. (2018). Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2. European Neurology, 166-170. https://doi.org/10.1159/000487508