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

doi:10.1159/000487508

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

IRCCS Fondazione Policlinico Universitario A. Gemelli

Research output: Contribution to journal › Article

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 language	English
Pages (from-to)	166-170
Number of pages	5
Journal	European Neurology
Volume	79
Issue number	3-4
DOIs	https://doi.org/10.1159/000487508
Publication status	Published - 2018

Keywords

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

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10.1159/000487508

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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, 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 journal › Article

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AU - Santoro, Massimo

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