Search

for
Search:

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.

Related Terms

Learn

0 / 0 results

— no results

Research

5 / 82 results

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 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 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 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 Myotonic Dystrophy Type 1: Enhancing Patient Management Through Genetic and Multisystem Studies

January 2023

There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.

View more "myotonic dystrophy type 1" in research →

Community Join

1 / 1 results

community DHT Isn’t the Only Factor in Hair Loss and That Might Be the Key to a Real Cure

in Research/Science 363 upvotes 1 week ago

Hair loss involves more than just DHT, with genetic factors like TRPS affecting hair follicles. Treatments such as Amplifica's AMP-601 and AMP-303 target stem cells for potential hair growth solutions.