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GlossaryMyotonic Dystrophy Type 1 (DM1)

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 Hyperandrogenism and Polycystic Ovary Syndrome in Women with Type 1 Diabetes Mellitus

96 citations, February 2007 in “The Journal of Clinical Endocrinology & Metabolism”

Women with type 1 diabetes often have polycystic ovary syndrome and excess male hormones, which are frequently undiagnosed.

research Skin Features in Myotonic Dystrophy Type 1: An Observational Study

8 citations, March 2015 in “Neuromuscular Disorders”

People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.

research Cellular Senescence and Aging in Myotonic Dystrophy

4 citations, February 2022 in “International Journal of Molecular Sciences”

Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.

research Multiple Basal Cell Carcinomas in a Patient with Myotonic Dystrophy Type 1

3 citations, March 2019 in “Case Reports”

A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.

research Multiple Hemangiomas of the Tongue and Oral Cavity in a Myotonic Dystrophy Type 1 Patient: A Case Report

October 2023 in “Chest”

A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.

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