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 journalArticlepeer-review


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
Issue number3-4
Publication statusPublished - 2018


  • Adult
  • Humans
  • Male
  • Middle Aged
  • Myotonic Dystrophy/complications
  • Pedigree
  • Primary Dysautonomias/etiology


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