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 myotonic dystrophy type 1 (DM1)
This resource provides more information on the disease pathology underlying DM1 on a molecular level.
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.