Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

Eur Neurol. 2018;79(3-4):166-170. doi: 10.1159/000487508. Epub 2018 Mar 13.


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.

Keywords: Dysautonomia; Fluorescent in situ hybridization; Myotonic dystrophy type 2; Nerve biopsy; Peripheral neuropathy.

Publication types

  • Case Reports

MeSH terms

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