Patient registry, the Myotubular Trust

Myotubular myopathy is a rare muscle disease which affects mainly boys.  It causes profound muscle weakness and just one per cent of children born with the more severe x-linked form will only live to the age of 10.

Because the disease particularly affects the muscles used for swallowing, the boys often have trouble breathing and have to use a ventilator.

The very nature of the condition makes research difficult: it's rarity combined with the short life span of the children who have it.

This is why Jeans for Genes is awarding a grant to the Trust to establish a European patient registry.  Gathering information about children from a wider area means that doctors will have far more information and more opportunity to develop their knowledge.  This in turn will help them to deliver new treatments quickly when they become available.

Joshua with his pet mouse

Joshua's story

"I would love to walk."

Joshua is eight.  He has x-linked myotubular myopathy which affects the muscles that he uses to breathe and swallow. 

The muscles in his legs are too weak to support him and he has to use a powered wheelchair.

He uses a ventilator 24 hours a day and he's fed through a tube in his stomach because his muscles aren't strong enough to swallow.

But Joshua is luckier than many boys with his condition.  it's thought that 8 out of 10 die before their first birthday. 

Joshua loves to do many of the things that boys his age like to do, including dressing up as a wizard for a Hallowe'en party!  Despite his problems, he's a bright and happy boy who's full of life.