About Team Titin
Team Titin, Inc. is a tax-exempt nonprofit dedicated to serving those living with, caring for, or researching titin (TTN) related muscle and heart disorders. Changes in the TTN (titin) gene cause a spectrum of muscle and heart disorders that range from rare to common and can have a negative impact on health and quality of life. Titin-related heart conditions are the most common genetic cause of a heart condition called dilated cardiomyopathy. While estimates vary, as many as 1 of 500 adults may have this condition.
Titin and skeletal muscles:
Additionally, changes in the TTN gene can cause a wide spectrum of rare muscle disorders called “Titinopathy”. These disorders may be also called a “myopathy” or a “dystrophy” including limb-girdle muscular dystrophy (LGMD) and tibial muscular dystrophy. Some forms of titin-related myopathies may include:Centronuclear myopathy, Multi-minicore myopathy, Hereditary Myopathy with Early Respiratory Failure (HMERF), Salih myopathy, Core myopathy with heart disease, Emery-Dreifuss-like muscular dystrophy phenotype without cardiomyopathy and likely more soon to be discovered skeletal muscle conditions.
The age of onset and severity for both heart and skeletal muscle disease is variable. Due to the wide spectrum of presentation and its rarity the true incidence of titin-related skeletal muscle disorders is currently unknown. The rate with which people are diagnosed with these conditions is expected to rise precipitously as research grows, genetic tools improve and policy expands leading to more people diagnosed with a titin-related condition. Even though any single, rare condition like skeletal titinopathy is uncommon, the aggregate of rare diseases in the US constitutes a public health crisis. For each individual with a rare disease like titinopathy has a significant impact on health, emotional wellbeing and ability to work, play and learn. Team Titin plays a crucial role in supporting families with this condition as well as supporting research.