Abstract
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the rarity and variability of the disease. The UK Myotonic Dystrophy Patient Registry is a patient self-enrolling online database collecting clinical and genetic information. For this cross-sectional “snapshot” analysis, 556 patients with a confirmed diagnosis of DM1 registered between May 2012 and July 2016 were included. An almost even distribution was seen between genders and a broad range of ages was present from 8 months to 78 years, with the largest proportion between 30 and 59 years. The two most frequent symptoms were fatigue and myotonia, reported by 79 and 78% of patients, respectively. The severity of myotonia correlated with the severity of fatigue as well as mobility impairment, and dysphagia occurred mostly in patients also reporting myotonia. Men reported significantly more frequent severe myotonia, whereas severe fatigue was more frequently reported by women. Cardiac abnormalities were diagnosed in 48% of patients and more than one-third of them needed a cardiac implant. Fifteen percent of patients used a non-invasive ventilation and cataracts were removed in 26% of patients, 65% of which before the age of 50 years. The registry’s primary aim was to facilitate and accelerate clinical research. However, these data also allow us to formulate questions for hypothesis-driven research that may lead to improvements in care and treatment.
Highlights
MethodsIn most populations myotonic dystrophy is the most common muscular dystrophy
A total of 610 patients registered in the UK Myotonic Dystrophy Patient Registry between May 2012 and July 2016
A diverse group of myotonic dystrophy patients have registered, providing a cross-sectional snapshot of the myotonic dystrophy population in the UK and the contribution from healthcare professionals across the country has helped establish a virtual network of medical professionals with an interest in myotonic dystrophy and research into the condition [23]
Summary
In most populations myotonic dystrophy is the most common muscular dystrophy. With an estimated prevalence of 10 per 100,000 people affected in European populations [1, 2], we estimate upwards of 6500 people to be affected in the UK, the majority with myotonic dystrophy type 1 (DM1). DM1 is one of the most variable human diseases with complex, multi-systemic, and progressively worsening symptoms. Pulmonary and cardiac functions are impaired with sudden death from cardiac complications being a significant cause of fatality [3]. Excessive daytime sleepiness and psychiatric symptoms might lead to restricted social participation and quality of life can be seriously impaired [5,6,7]. There is currently no curative treatment for this complex condition
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