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

Abstract

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
Volume79
Issue number3-4
DOIs
Publication statusPublished - 2018

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Primary Dysautonomias
Myotonic Dystrophy
Chromosomes, Human, Pair 3
Muscular Dystrophies
Peripheral Nervous System
Peripheral Nervous System Diseases
Peripheral Nerves
Microsatellite Repeats
Signs and Symptoms
Skeletal Muscle

Keywords

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

Cite this

Rossi, S., Romano, A., Modoni, A., Perna, F., Rizzo, V., Santoro, M., ... Silvestri, G. (2018). Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2. European Neurology, 79(3-4), 166-170. https://doi.org/10.1159/000487508

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2. / Rossi, Salvatore; Romano, Angela; Modoni, Anna; Perna, Francesco; Rizzo, Valentina; Santoro, Massimo; Monforte, Mauro; Pieroni, Maurizio; Luigetti, Marco; Pomponi, Maria Grazia; Silvestri, Gabriella.

In: European Neurology, Vol. 79, No. 3-4, 2018, p. 166-170.

Research output: Contribution to journalArticle

Rossi, S, Romano, A, Modoni, A, Perna, F, Rizzo, V, Santoro, M, Monforte, M, Pieroni, M, Luigetti, M, Pomponi, MG & Silvestri, G 2018, 'Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2', European Neurology, vol. 79, no. 3-4, pp. 166-170. https://doi.org/10.1159/000487508
Rossi S, Romano A, Modoni A, Perna F, Rizzo V, Santoro M et al. Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2. European Neurology. 2018;79(3-4):166-170. https://doi.org/10.1159/000487508
Rossi, Salvatore ; Romano, Angela ; Modoni, Anna ; Perna, Francesco ; Rizzo, Valentina ; Santoro, Massimo ; Monforte, Mauro ; Pieroni, Maurizio ; Luigetti, Marco ; Pomponi, Maria Grazia ; Silvestri, Gabriella. / Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2. In: European Neurology. 2018 ; Vol. 79, No. 3-4. pp. 166-170.
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