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A study of an atypical form of DM1 will improve the diagnosis and management of this rare disease

The Neuromuscular and Neuropediatric Group at the IGTP, led by Gisela Nogales-Gadea have identified a subset of patients with an atypical type of myotonic dystrophy type 1 (MD1), which develops later and with more severe symptoms than usual. This has important implications for diagnosis of these patients, who can be misdiagnosed or not given the correct prognosis. It is also vital for managing the disease correctly in patients and their families. The study has been published in Human Mutation.