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J Neurol. 2017 Aug;264(8):1705-1714. doi: 10.1007/s00415-017-8504-1. Epub 2017 May 26.

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

Author information

1
Department of Biomedical Sciences for Health, University of Milan, Milan, Italy.
2
Department of Neurology, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
3
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
4
Service of Laboratory Medicine, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
5
Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, Piazza E. Malan, 1, San Donato Milanese, 20097, Milan, Italy. rosanna.cardani@grupposandonato.it.

Abstract

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

PMID:
28550479
DOI:
10.1007/s00415-017-8504-1
[Indexed for MEDLINE]

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