Myotonic Dystrophy Type 1 (DM1)
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults and is associated with high morbidity and early mortality.1,2 Symptoms of DM1 are heterogeneous and multi-systemic, affecting skeletal and smooth muscle as well as the eye, heart, endocrine, and central nervous systems.3 Expansions in an unstable CTG repeat region in the DMPK gene lead to a widespread disruption of RNA splicing, known as spliceopathy, which drives the multi-system manifestations of the disease.4Although muscle weakness is often reported as the most prominent and impactful symptom of DM1, many find that CNS-related symptoms are more disabling.5–7
The NeMO model of multidisciplinary management of DM1
NeMO is a network of clinical centers in Italy focused on the diagnosis, treatment, and research of neuromuscular disease. Watch this short case study from Clinical Director of NeMO Milan, Valeria Sansone, to understand how NeMO exemplifies best practice in clinic organization and multidisciplinary team coordination to deliver an integrated model of care that prioritizes the needs of patients and addresses the multisystem impact of DM1.
Missplicing and functional impairment in DM1
This resource provides more information on the disease pathology underlying DM1 on a molecular level.
CNS involvement in DM1
An infographic summary highlighting key domains impacted by CNS involvement in DM1.
CNS manifestations in DM1
Explore this resource to understand how DM1 affects the brain and the impact of CNS-related symptoms on affected individuals. This resource covers the CNS manifestations that present, the role of spliceopathy, and changes within the CNS that contribute to symptoms in individuals living with DM1.
5-times sit-to-stand (5xSTS): A comprehensive, multi-system measure of function in DM1
An infographic highlighting the 5-times sit-to-stand test as a potential comprehensive, multi-system measure of functional improvement in DM1.
1. Liao Q, et al. Neuroepidemiology. 2022;56(3):163–173; 2. Mathieu J, et al. Neurology. 1999;52(8):1658–1662; 3. Ho G, et al. World J Clin Pediatr. 2015;4:66–80; 4. López-Martínez A, et al. Genes (Basel). 2020;11(9):1109; 5. Hagerman KA, et al. Muscle Nerve. 2019;59(4):457–464; 6. Miller JN, et al. Front Neurol. 2021;12:700796; 7. White M. Ther Innov Regul Sci. 2020;54:1010–1017.