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    Glossary Myotonic Dystrophy Type 1

    genetic disorder causing progressive muscle wasting and weakness

    Myotonic Dystrophy Type 1 (DM1), also known as Steinert disease, is a genetic disorder characterized by progressive muscle wasting and weakness. It is caused by a mutation in the DMPK gene, leading to an abnormal expansion of DNA repeats that disrupts normal cellular function. Symptoms can include muscle stiffness (myotonia), cataracts, heart conduction defects, and endocrine changes, and the severity can vary widely among individuals.

    Research 10 of 81

    1. Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study Journal of The American Academy of Dermatology · 2015 · 23 citations
    2. Skin features in myotonic dystrophy type 1: An observational study Neuromuscular Disorders · 2015 · 8 citations
    3. Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1 Case Reports · 2019 · 3 citations
    4. MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT Chest · 2023
    5. Myotonic dystrophy type 1 2023
    6. Cutaneous Neoplasms in Myotonic Dystrophy Type 1 Dermatology · 2016 · 10 citations
    7. Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis Neuromuscular Disorders · 2016 · 18 citations
    8. SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma Journal of the Endocrine Society · 2020
    9. Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform. Communities in ADDI (University of the Basque Country) · 2024
    10. Cellular Senescence and Aging in Myotonic Dystrophy International Journal of Molecular Sciences · 2022 · 4 citations
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