Dyne Medical Central

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.4 Although 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

Access the resources below to learn more.

DM1 Disease Background

The modules in this collection provide a comprehensive overview of DM1 presentation, diagnosis, and management.

  • DM1 modules summary

    A one-page summary of the DM1 disease background modules.

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  • Module 1: What is DM1?

    An overview of DM1 and the mechanism of spliceopathy.

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  • Module 2: How is DM1 diagnosed?

    Symptoms and diagnostic pathway for DM1.

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  • Module 3: What are the clinical manifestations and impact of DM1?

    Overview of the multi-system impacts and socio-economic burden of DM1.

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  • Module 4: What clinical phenotypes are seen in DM1?

    Key features of congenital, childhood, adult, and late-onset DM1.

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  • Module 5: How is DM1 managed and monitored?

    Pharmacological and nonpharmacological interventions in DM1, monitoring and the role of the multidisciplinary team.

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Interactive digital resources

  • Think you know DM1?

    An interactive digital resource containing key facts about DM1.

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  • What is a spliceopathy?

    An interactive digital resource explaining what a spliceopathy is, and how it leads to the clinical manifestations of DM1.

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  • One Disease, Multiple Symptoms

    An interactive digital resource exploring the organ systems affected by DM1 and the resulting clinical manifestations.

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  • Understanding how DM1 affects the brain

    An interactive digital resource exploring how DM1 impacts the brain.

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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.

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Missplicing and functional impairment in DM1

This resource provides more information on the disease pathology underlying DM1 on a molecular level.

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CNS Involvement In DM1

An infographic summary highlighting key domains impacted by CNS involvement in DM1.

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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.

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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.

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References:

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.