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Thesis Mieke Hermans: Myotonic dystrophy type 1
29 July 2013

On 21 June 2013 Mieke Hermans defended her thesis "Getting a grip on myotonic dystrophy type 1". Prof. Dr. Yigal Pinto (Cardiology, Academic Medical Center Amsterdam) is her promotor and Dr. Karin Faber (Neurology, Maastricht University Medical Center) and Dr. Ingemar Merkies (Neurology, Maastricht University Medical Center/Spaarne Hospital Hoofddorp), are her co-promotors.

This thesis describes a series of studies on myotonic dystrophy type 1 (DM1). DM1 is an autosomal dominantly inherited multisystem disorder with a prevalence of 2.1-14.3 per 100 000 worldwide. The diagnosis of DM1 is usually suspected in individuals with characteristic muscle weakness and myotonia and can be con?rmed by detection of a CTG trinucleotide repeat in the 3’ non-coding region of the dystrophia myotonica protein kinase (DMPK) gene. Apart from neuromuscular symptoms, patients have multiple organ manifestations including cardiac involvement

PART I – CARDIAC DISEASE IN DM1

As prognosis of DM1 patients may be directly related to cardiac status, surveillance and timely management of cardiac complications are important. However, despite the high incidence of cardiac abnormalities in DM1, there is no consensus on the management of heart disease and the risk of sudden death may not be fully appreciated. The main objectives of the ?rst part of this thesis were to determine the occurrence and predictors of sudden death, to establish the presence and nature of cardiomyopathy in DM1 and to describe changes in gene expression that may lead to cardiac dysfunction, in order to improve standard follow-up and treatment regimens.

PART II- OUTCOME MEASURES IN DM1 

Over time, DM1 leads to muscle and organ impairments causing progressive disability. Most of the treatment thus far is directed towards symptom management. In addition, advances in understanding of the complex pathogenesis have led to potential molecular therapeutic targets in preclinical studies. Before being able to evaluate therapeutic interventions in clinical trials, consensus is needed on which core set of appropriate outcome measures should be used. In the second part of the thesis, we aimed to show the importance of modern clinimetric methods and construct new outcome measures for future DM1 studies.

The online version of the thesis can be found here: www.myotonedystrofie.org/thesis_hermans.

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