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GlossaryMyotonic 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 Dysplastic Nevi, Cutaneous Melanoma, and Other Skin Neoplasms in Patients with Myotonic Dystrophy Type 1: A Cross-Sectional Study

23 citations, January 2015 in “Journal of The American Academy of Dermatology”

People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.

research Cutaneous Features of Myotonic Dystrophy Types 1 and 2: Implications of Premature Aging and Vitamin D Homeostasis

18 citations, November 2016 in “Neuromuscular Disorders”

Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.

research Three Cases of Androgen-Dependent Disease Associated with Myotonic Dystrophy

8 citations, January 2003 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.

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 Late Presentation of Myotonic Dystrophy

5 citations, January 1998 in “Clinical and experimental dermatology”

Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.

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