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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 74

    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. Stem cell secretome as a new booster for regenerative medicine Bioscience trends · 2019 · 54 citations
    20. 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
    21. Beyond the Matrix: A Rare Case of Pilomatrix Carcinoma with Histologic Insights Annals of Pathology and Laboratory Medicine · 2026
    22. Drug Repurposing Patent Applications July–September 2025 Drug repurposing · 2025
    23. The AR/miR-221/IGF-1 pathway mediates the pathogenesis of androgenetic alopecia International Journal of Biological Sciences · 2023 · 2 citations
    24. Dermatological symptoms and sexual abuse: a review and case reports Journal of the European Academy of Dermatology and Venereology · 2000 · 31 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. An unusual presentation of pilomatrixoma Journal of the Scientific Society · 2013 · 1 citations
    28. Pilomatrix Carcinoma: Report of Two Cases of the Head and Review of the Literature Current Oncology · 2023 · 12 citations
    29. Ptosis in childhood Medicine · 2018 · 15 citations
    30. Abstracts from the 4th Annual Student Medical Summit BMC Proceedings · 2021 · 1 citations