Given that titin muscle disorders are rare, many clinicians have not heard of it and may not be aware of best practices to manage the symptoms. There is currently no cure for titin related muscle weakness, so affected individuals aim to manage the symptoms as best as they can to improve longevity and quality of life. There are some treatments available to manage a variety of heart conditions so please consult your cardiac care team for your best options.
To help families learn about and advocate for the best care there are some care guides available. There are several care guides below based on subtype.
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 below 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 to community requests for useful information. This work began as a translation into more easily understood language from the Consensus Statement on Standard of Care for Congenital Myopathies medical document that was published in 2012 by Wang and colleagues in the Journal of Child Neurology. As the guide for families took shape, it was apparent that the guidebook would include much more than basic medical information, since we had terrific input from the very people living with and caring for someone with CM. The family guide became testimony to many of the challenges, joys, concerns, and triumphs that are typical for those living a not-so-typical life. Our sincere appreciation goes out to everyone that contributed to what we hope will be an engaging, informative manual for families and individuals with CM.
You can click here to find the guide in Spanish, Polish and Russian.
Guideline for Limb Girdle Muscular Dystrophy (LGMD) – click here.