What’s in a name? Titinopathy vs. Titin Myopathy
What is a Titin Myopathy? Terminology: “Titin Myopathy” versus “Titinopathy” How severe are Titin Myopathies?
2021 Update- The Care of Congenital Myopathy: A Guide for Families
This is a wonderful resource for families to learn more about getting the best care in a wide range of clinical areas. Click HERE for a PDF version of this document. The Care of Congenital Myopathy: A Guide for Families is a comprehensive care guide developed for families and people with congenital myopathy (CM) in response … Read more
COVID-19 Resources
Greetings families affected by titin related muscle and heart disorders. Our world is now facing the global health challenge of the Coronavirus pandemic (COVID-19). Please keep in mind that there are special considerations for people with titin health disorders, including carriers. Please see details below. Video update from Dr. A. Reghan Foley, Neuromuscular and Neurogenetic … Read more
Titin Families and Researchers are Pioneers
New genetic technologies have made recent expanded diagnosis of titin related muscle and heart disorders possible. We are at the tip of the iceburg as far as these discoveries. That makes our families and researchers pioneers in the age of discovery in regards to titinopathies. Please check out this 3 minute video:
Where to get good cardiac care?
Variants in the Titin gene are known to cause some heart problems in some people. If you are wondering where to get a good heart evaluation and treatment here is a great resource available for you. The Children’s Cardiomyopathy Foundation has recognized medical centers with expertise in pediatric cardiomyopathy. A designated CCF-accredited center of care provides … Read more
Respiratory Management
Managing breathing is one of the most important factors to maintain overall health and longevity for people with muscle weakness. Because titinopathies cause such a wide variety of health issues in different people, it is good for most people to get a regular evaluation of respiratory (breathing) health. This is a link to a great … Read more
Vaccinate your family
The year my son got the flu he missed 63 days of school. He was exhausted for months afterwards. It was a very difficult time for our family and not one we’d like to go through again. The flu can make you miss work, school or even be hospitalized. People with muscle disease are at … Read more
About Titin Myopathy (Titinopathy)
What is Titin? Titin is a very large protein. In fact, it is the largest protein known to exist in the human body. The titin protein is located in each of the individual muscle cells within the muscles that move our bodies. In muscle cells, titin is part of the sarcomere, which is responsible for … Read more