Myotonic Dystrophy

What is myotonic dystrophy (DM)?

Type 1 myotonic dystrophy is often characterized by weakness and wasting (shrinking) of voluntary muscles, particularly in the face, neck, lower arms, and legs. Additionally, muscles between the ribs and the diaphragm, which plays a crucial role in breathing, can also become weakened.

Myotonic dystrophy (DM) is a type of muscular dystrophy that not only affects the muscles but also impacts various other organs throughout the body.

The term “myotonic” comes from “myotonia,” which refers to the inability to relax muscles voluntarily after they contract.

“Muscular dystrophy” describes a group of disorders that cause progressive muscle degeneration, leading to muscle weakness and tissue shrinkage over time.

Myotonic dystrophy is commonly abbreviated as “DM,” derived from its Greek name, dystrophia myotonica. It is also sometimes called Steinert disease, named after the German doctor who first identified the condition in 1909.

Learn more about myotonic dystrophy here.

Myotonic dystrophy is a genetic multisystemic disease characterized by muscle wasting, myotonia, cataracts and heart defects. There are two main types: DM1 caused by CTG repeats on chromosome 19, and DM2 caused by CCTG repeats on chromosome 21. Symptoms range from mild myotonia to severe congenital weakness. Diagnosis involves muscle biopsy, EMG, ECG and MRI. While there is no cure, treatment focuses on symptom relief using medications, physical therapy and surgery.

https://www.slideshare.net/slideshow/myotonic-dystrophy-43875135/43875135

 

About us

Our blog is dedicated to sharing Zayden's and our family's personal experiences living with Myotonic Dystrophy Type 1. We hope to provide valuable insights and resources for individuals and families affected by this condition by sharing our experiences with all the struggles, hardship, and all the triumphs along this bumpy road of trials and errors that will come along . Together, we strive to create a supportive community and advocate for greater awareness and research. We hope to have others join us on our journey while sharing their own journeys.