Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach

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 limi...

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Bibliographic Details
Published in:Journal of neurology 2017-08, Vol.264 (8), p.1705-1714
Main Authors: Meola, Giovanni, Biasini, Fiammetta, Valaperta, Rea, Costa, Elena, Cardani, Rosanna
Format: Article
Language:English
Subjects:
Congenital diseases
Electromyography
Humans
Kinases
Laboratories
Medicine
Medicine & Public Health
Muscular dystrophy
Mutation
Myopathy
Myotonia
Myotonic dystrophy
Myotonic Dystrophy - diagnosis
Myotonic Dystrophy - genetics
Myotonic Dystrophy - pathology
Neurology
Neuroradiology
Neurosciences
Proteins
Review
Symptom management
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Description
Summary: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.
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-017-8504-1