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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.

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    Research 30 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
    11. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    12. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome Dermatopathology · 2025
    13. Syndromes of Severe Insulin Resistance (SSIRs) 2004
    14. Exploring lncRNA-Mediated Mechanisms in Muscle Regulation and Their Implications for Duchenne Muscular Dystrophy International Journal of Molecular Sciences · 2025
    15. Insulin resistance as risk factor for the development of type 2 diabetes mellitus: a systematic approach Acta Marisiensis · 2021
    16. A Clinical Approach to Severe Insulin Resistance KARGER eBooks · 2007 · 32 citations
    17. Physiology of the Hypothalamic Pituitary Gonadal Axis in the Male Urologic Clinics of North America · 2016 · 70 citations
    18. A failure to relax. PubMed · 2007
    19. Efficacy and safety of glucocorticoids in the treatment of progressive muscular dystrophy in children: a systematic review and meta-analysis Translational pediatrics · 2021 · 1 citations
    20. Beyond the Matrix: A Rare Case of Pilomatrix Carcinoma with Histologic Insights Annals of Pathology and Laboratory Medicine · 2026
    21. Drug Repurposing Patent Applications July–September 2025 Drug repurposing · 2025
    22. The AR/miR-221/IGF-1 pathway mediates the pathogenesis of androgenetic alopecia International Journal of Biological Sciences · 2023 · 2 citations
    23. Dermatological symptoms and sexual abuse: a review and case reports Journal of the European Academy of Dermatology and Venereology · 2000 · 31 citations
    24. Sexual dysfunction, including hypoactive sexual desire disorder: Diagnosis and treatment recommendations Cambridge University Press eBooks · 2015 · 1 citations
    25. Atypical Pediatric Presentation of Pilomatricoma Cureus · 2023 · 3 citations
    26. CAG Repeat Testing of Androgen Receptor Polymorphism: Is This Necessary for the Best Clinical Management of Hypogonadism? The Journal of Sexual Medicine · 2013 · 29 citations
    27. Molecular pathology of skin adnexal tumours Histopathology · 2021 · 16 citations
    28. Male fertility and skin diseases Reviews in Endocrine and Metabolic Disorders · 2016 · 12 citations
    29. Premature Greying of Hair (Premature Canities): A Concern for Parent and Child Journal of Pigmentary Disorders · 2017 · 2 citations
    30. Potassium channel openers: therapeutic potential in cardiology and medicine Expert Opinion on Pharmacotherapy · 2001 · 25 citations