Search
for

    Did you mean Myotonic Dystrophy Type 1?
    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.

    Sort by

    Research 30 of 75

    1. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    2. 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
    3. Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert Der Hautarzt · 2001 · 18 citations
    4. Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis Neuromuscular Disorders · 2016 · 18 citations
    5. Three cases of androgen‐dependent disease associated with myotonic dystrophy 2003 · 8 citations
    6. Skin features in myotonic dystrophy type 1: An observational study Neuromuscular Disorders · 2015 · 8 citations
    7. Late presentation of myotonic dystrophy Clinical and experimental dermatology · 1998 · 5 citations
    8. Cellular Senescence and Aging in Myotonic Dystrophy International Journal of Molecular Sciences · 2022 · 4 citations
    9. Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1 Case Reports · 2019 · 3 citations
    10. SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma Journal of the Endocrine Society · 2020
    11. MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT Chest · 2023
    12. Myotonic dystrophy type 1 2023
    13. Cutaneous Neoplasms in Myotonic Dystrophy Type 1 Dermatology · 2016 · 10 citations
    14. 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
    15. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome Dermatopathology · 2025
    16. 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
    17. Exploring lncRNA-Mediated Mechanisms in Muscle Regulation and Their Implications for Duchenne Muscular Dystrophy International Journal of Molecular Sciences · 2025
    18. A failure to relax. PubMed · 2007
    19. Atypical Pediatric Presentation of Pilomatricoma Cureus · 2023 · 3 citations
    20. Eyelid Pilomatrixomas: A Case Report and Comprehensive Literature Review Cureus · 2025
    21. Pilomatrixoma of the Forearm in an Elderly Male Cureus · 2024
    22. Physiology of the Hypothalamic Pituitary Gonadal Axis in the Male Urologic Clinics of North America · 2016 · 70 citations
    23. A Clinical Approach to Severe Insulin Resistance KARGER eBooks · 2007 · 32 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. Potassium channel openers: therapeutic potential in cardiology and medicine Expert Opinion on Pharmacotherapy · 2001 · 25 citations
    26. Molecular pathology of skin adnexal tumours Histopathology · 2021 · 16 citations
    27. Proliferating Giant Pilomatrixoma: A Case Report Cureus · 2025
    28. Drug Repurposing Patent Applications July–September 2025 Drug repurposing · 2025
    29. Syndromes of Severe Insulin Resistance (SSIRs) 2004
    30. 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