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

Fondazione Don Carlo Gnocchi Onlus

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
DOIs	https://doi.org/10.1159/000487508
Publication status	Published - Mar 13 2018

Keywords

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

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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.",

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AU - Perna, Francesco

AU - Rizzo, Valentina

AU - Santoro, Massimo

AU - Monforte, Mauro

AU - Pieroni, Maurizio

AU - Luigetti, Marco

AU - Pomponi, Maria Grazia

AU - Silvestri, Gabriella

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