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The UK Myotonic Dystrophy Patient Registry

Lookup NU author(s): Dr Nikoletta Nikolenko, Dr Jose Atalaia, Dr Chiara Marini Bettolo, Professor Volker StraubORCiD, Professor Hanns Lochmuller


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Abstract: Background Myotonic Dystrophy type 1 (DM1) is the most common adult muscular dystrophy affecting an estimated 8,000 people in the UK. It is an autosomal dominant disorder caused by the triplet CTG repeat expansion in the 3’ untranslated region of the DMPK on chromosome 19. DM1 is associated with a progressive multisystemic disease and currently there is no cure or disease modifying treatment for this disease. The average age of death is 53 years from cardiac and respiratory complications that are usually preceded by decades of morbidity and reduced quality of life. The UK Myotonic Dystrophy Registry is a patient initiated online database collecting detailed clinical and genetic information about both DM1 and myotonic dystrophy type 2 (DM2). It is coordinated from the John Walton Muscular Dystrophy Research Centre (Newcastle University) and the data collected includes all items agreed at the 2009 TREAT-NMD and Marigold Foundation ENMC workshop. Results Of the 451 DM1 patients enrolled from May 2009 until March 2016, 386 (85.6%) patients reported a positive family history of the disease. An even distribution is seen between genders (Female: 236, Male: 215) and a broad range of ages is present from 9 to 81 years old (mean 46.56 ± 14.35). 290 (64.3%) patients are ambulatory-unassisted, 146 (32.4%) are ambulatory-assisted and 10 (2.2%) are non-ambulatory. The most common reported symptom in the Registry is fatigue, occurring in 355 (78.7%) patients of which 89 (25.1%) are taking medication to treat this condition. Myotonia occurs in 351 (77.8%) patients and dysphagia in 210 (46.6%) patients. Dysphagia occurs mostly in patients also reporting myotonia and a statistically signifi cant association can be seen between the two with more severe myotonic occurring more often in those with dysphagia (p =<0.0001).92 (20.4%) patients are aware of having of a heart condition of which 30 (32.6%) have a cardiac implant. A non-invasive ventilation is used by 24 (5.3%) patients. 52 (11.5%) patients reported that they underwent cataract surgery in the past. Conclusion The UK Myotonic Dystrophy Patient registry is an example of a novel patient driven registry. Its success can be measured by its continuous growth and utilisation. The registry has successfully assisted the recruitment and planning of a number of commercial and academic studies, including EU funded project OPTIMISTIC and the Newcastle Upon Tyne Hospitals NHS Foundation Trust funded natural history study PhenoDM1. In addition to this purpose the registry also provides interesting and important data characterising the DM1 community in the United Kingdom.

Publication metadata

Author(s): Nikolenko N, Wood L, Turner C, Hilton-Jones D, Atalaia A, Marini-Bettolo C, Maddison P, Philips M, Roberts M, Rogers M, Straub V, Hammans S, Lochmuller H

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: 14th International Congress on Neuromuscular Diseases (ICNMD XIV)

Year of Conference: 2016

Number of Volumes: 3

Pages: S166-S167

Print publication date: 21/06/2016

Acceptance date: 01/04/2016

ISSN: 2214-3599

Publisher: IOS Press


DOI: 10.3233/JAD-169001

Series Title: Journal of Neuromuscular Diseases