Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach

Research output: Contribution to journalReview article

1 Citation (Scopus)

Abstract

© 2017, Springer-Verlag Berlin Heidelberg. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. Diagnostic delay in DM2 is due not only to the heterogeneous phenotype and the aspecific onset but also to the unfamiliarity with the disorder by most clinicians. Moreover, the DM2 diagnostic odyssey is complicated by the difficulties to develop an accurate, robust, and cost-effective method for a routine molecular assay. The aim of this review is to underline by challenging approach the diagnostic limits and pitfalls that could results in failure to recognize the presence of DM2 disease. Understanding and preventing delays in DM2 diagnosis may facilitate family planning, improve symptom management in the short term, and facilitate more specific treatment in the long term.
Original languageEnglish
Pages (from-to)1705-1714
Number of pages10
JournalJournal of Neurology
Volume264
Issue number8
DOIs
Publication statusPublished - Aug 1 2017

Fingerprint

Myotonic Dystrophy
Myotonia
Muscular Dystrophies
Family Planning Services
Berlin
Muscular Diseases
Phenotype
Costs and Cost Analysis

Keywords

  • Clinical diagnosis
  • Genetic test
  • Muscle biopsy
  • Myotonic dystrophy type 2

Cite this

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach. / Meola, Giovanni; Meola, Giovanni; Biasini, Fiammetta; Valaperta, Rea; Costa, Elena; Cardani, Rosanna.

In: Journal of Neurology, Vol. 264, No. 8, 01.08.2017, p. 1705-1714.

Research output: Contribution to journalReview article

@article{b94fa3c96d4f47208216d370b09b9572,
title = "Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach",
abstract = "{\circledC} 2017, Springer-Verlag Berlin Heidelberg. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. Diagnostic delay in DM2 is due not only to the heterogeneous phenotype and the aspecific onset but also to the unfamiliarity with the disorder by most clinicians. Moreover, the DM2 diagnostic odyssey is complicated by the difficulties to develop an accurate, robust, and cost-effective method for a routine molecular assay. The aim of this review is to underline by challenging approach the diagnostic limits and pitfalls that could results in failure to recognize the presence of DM2 disease. Understanding and preventing delays in DM2 diagnosis may facilitate family planning, improve symptom management in the short term, and facilitate more specific treatment in the long term.",
keywords = "Clinical diagnosis, Genetic test, Muscle biopsy, Myotonic dystrophy type 2",
author = "Giovanni Meola and Giovanni Meola and Fiammetta Biasini and Rea Valaperta and Elena Costa and Rosanna Cardani",
year = "2017",
month = "8",
day = "1",
doi = "10.1007/s00415-017-8504-1",
language = "English",
volume = "264",
pages = "1705--1714",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "Dr. Dietrich Steinkopff Verlag GmbH and Co. KG",
number = "8",

}

TY - JOUR

T1 - Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach

AU - Meola, Giovanni

AU - Meola, Giovanni

AU - Biasini, Fiammetta

AU - Valaperta, Rea

AU - Costa, Elena

AU - Cardani, Rosanna

PY - 2017/8/1

Y1 - 2017/8/1

N2 - © 2017, Springer-Verlag Berlin Heidelberg. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. Diagnostic delay in DM2 is due not only to the heterogeneous phenotype and the aspecific onset but also to the unfamiliarity with the disorder by most clinicians. Moreover, the DM2 diagnostic odyssey is complicated by the difficulties to develop an accurate, robust, and cost-effective method for a routine molecular assay. The aim of this review is to underline by challenging approach the diagnostic limits and pitfalls that could results in failure to recognize the presence of DM2 disease. Understanding and preventing delays in DM2 diagnosis may facilitate family planning, improve symptom management in the short term, and facilitate more specific treatment in the long term.

AB - © 2017, Springer-Verlag Berlin Heidelberg. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. Diagnostic delay in DM2 is due not only to the heterogeneous phenotype and the aspecific onset but also to the unfamiliarity with the disorder by most clinicians. Moreover, the DM2 diagnostic odyssey is complicated by the difficulties to develop an accurate, robust, and cost-effective method for a routine molecular assay. The aim of this review is to underline by challenging approach the diagnostic limits and pitfalls that could results in failure to recognize the presence of DM2 disease. Understanding and preventing delays in DM2 diagnosis may facilitate family planning, improve symptom management in the short term, and facilitate more specific treatment in the long term.

KW - Clinical diagnosis

KW - Genetic test

KW - Muscle biopsy

KW - Myotonic dystrophy type 2

UR - http://www.scopus.com/inward/record.url?scp=85019759153&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85019759153&partnerID=8YFLogxK

U2 - 10.1007/s00415-017-8504-1

DO - 10.1007/s00415-017-8504-1

M3 - Review article

AN - SCOPUS:85019759153

VL - 264

SP - 1705

EP - 1714

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 8

ER -