New developments in myotonic dystrophies from a multisystemic perspective

Abstract

Purpose of reviewThe multisystemic involvement of myotonic dystrophies (DMs) intricates disease monitoring, patients’ care and trial design. This update of the multifaceted comorbidities observed in DMs aims to assist neurologists in the complex management of patients and to encourage further studies for still under-investigated aspects of the disease.Recent findingsWe reviewed the most recent studies covering pathogenesis and clinical aspects of extra-muscular involvement in DM1 and DM2. The largest body of evidence regards the cardiac and respiratory features, for which experts’ recommendations have been produced. Gastrointestinal symptoms emerge as one of the most prevalent complaints in DMs. The alteration of insulin signaling pathways, involved in gastrointestinal manifestations, carcinogenesis, muscle function, cognitive and endocrinological aspects, gain further relevance in the light of recent evidence of metformin efficacy in DM1. Still, too few studies are performed on large DM2 cohorts, so that current recommendations mainly rely on data gathered in DM1 that cannot be fully translated to DM2.SummaryExtra-muscular manifestations greatly contribute to the overall disease burden. A multidisciplinary approach is the key for the management of patients. Consensus-based recommendations for DM1 and DM2 allow high standards of care but further evidence are needed to implement these recommendations.

The current clinical perception of myotonic dystrophy type 2

“…It has been previously reported that both DM1 and DM2 patients are at a higher risk of developing different forms of cancer [24]. D’Ambrosio et al .…”

Molekulare Therapien: Gegenwart und Zukunft bei neuromuskulären Erkrankungen

“…Bei den myotonen Dystrophien, den häufigsten autosomal dominant vererbten Muskelerkrankungen im Erwachsenenalter, unterscheidet man zwischen der myotonen Dystrophie Typ 1 (Curschmann-Steinert, DM1) und der proximalen myotonen Myopathie (PROMM, DM2; [ 33 ]). Die DMs zählen zu den sog.…”

“…Bei der DM1 lässt sich von der juvenilen und adulten Form auch eine kongenitale Ausprägung mit pränatalem Symptombeginn bzw. ersten Symptomen im Säuglingsalter abgrenzen (generalisierte Schwäche, insuffiziente Ernährung und Atmung, Hypotonie, kognitive und motorische Entwicklungsverzögerung; [ 33 , 46 ]).…”