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著者: Libby Wood, Isabell Cordts, Antonio Atalaia, Chiara Marini-Bettolo, Paul Maddison, Margaret Phillips, Mark Roberts, Mark Rogers, Simon Hammans, Volker Straub, Richard Petty, Richard Orrell, Darren G Monckton, Nikoletta Nikolenko, Aura Cecilia Jimenez-Moreno, Rachel Thompson, David Hilton-Jones, Chris Turner, Hanns Lochmüller
雑誌名: J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10.
Abstract/Text
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.
PMID 28397002 J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10.
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