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 | |
| Publication status | Published - Mar 13 2018 |
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Keywords
- Dysautonomia
- Fluorescent in situ hybridization
- Myotonic dystrophy type 2
- Nerve biopsy
- Peripheral neuropathy
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
Cite this
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, 13.03.2018, p. 166-170.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2
AU - Rossi, Salvatore
AU - Romano, Angela
AU - Modoni, Anna
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
PY - 2018/3/13
Y1 - 2018/3/13
N2 - 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.
AB - 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.
KW - Dysautonomia
KW - Fluorescent in situ hybridization
KW - Myotonic dystrophy type 2
KW - Nerve biopsy
KW - Peripheral neuropathy
UR - http://www.scopus.com/inward/record.url?scp=85044029173&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85044029173&partnerID=8YFLogxK
U2 - 10.1159/000487508
DO - 10.1159/000487508
M3 - Article
AN - SCOPUS:85044029173
SP - 166
EP - 170
JO - European Neurology
JF - European Neurology
SN - 0014-3022
ER -