About the Myotubular Trust

What is Myotubular Myopathy?

There are three genetically distinct forms of Myotubular Myopathy.

The commonest is x-linked, affecting only boys, and also the most severe. It usually presents in the newborn period and there is associated breathing and swallowing difficulties in addition to the general muscle weakness. The other forms are either dominant or recessive in inheritance, are usually milder and vary widely.

Our logo represents the muscle cell of someone with Myotubular Myopathy. In normal muscle development the central nucleus will go to the outside edge of the cell and use a protein called "myotubularin" to become strong and healthy. In the baby with Myotubular Myopathy, the "myotubularin" protein is missing which means that the muscles remain in the very weak stage of development. So as well as causing general muscle weakness, many sufferers need mechanical ventilation to stay alive and need to be fed straight into the stomach via a gastrostomy. Many are medically very fragile and need nursing care 24/7 for at least the first few years of life. Put very simply, a cold can kill someone affected by myotubular myopathy, as their cough and swallow function is so weak. Sadly many do not survive their first year of life.*

*source: PubMed 2002 Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy PMID 12467749

Each year, it is estimated that between 1 : 50,000 – 1: 100,000 children are affected by myotubular myopathy

Only 20% of boys born with x-linked myotubular myopathy survive to one year of age

Only 1% will survive beyond the age of 10 years

History of Myotubular Trust

Anne Lennox and Wendy Hughes, two parents of children affected by myotubular myopathy, set up the Myotubular Trust in February 2006. It was very clear that as a rare condition, research into myotubular myopathy could lag substantially behind the scientific developments in other fields of muscle disease, due to lack of dedicated funds, and the difficulty of “competing” with other more common diseases. The Founding Patron is the renowned Professor Victor Dubowitz, Emeritus Professor of Paediatrics at University of London and President of the World Muscle Society. Professor Francesco Muntoni, Professor of Pediatric Neurology and Head of The Dubowitz Neuromuscular Centre at the Institute of Child Health/Great Ormond Street Hospital for Children, is our scientific advisor and Chair of our Scientific Advisory Board, which advises us on our research grants.

We received charitable status in March 2006 and our charitable aims are:

“The relief of disability and the extension of life for those suffering from myotubular myopathy, by promoting the study of, and research into, the treatment and cure of the muscle weakness caused by myotubular myopathy”.

In 2010 the Trust became incorporated as a company limited by guarantee (07260229) registered in England and Wales.