Lung (respiratory) care It is not unusual for people with myotubular and centronuclear myopathies to experience breathing problems.  Mostly all children who present with symptoms of severe muscle weakness from birth will require support with their breathing for some...

Scoliosis Care Scoliosis (derived from the Greek word meaning crooked) is a medical condition in which a person’s spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual...

Real Blended Nutrition (or home blended foods) The accepted standard feed for patients is still liquid, nutritionally complete, pre-prepared commercial feed which is sterile, standardised and easy to prepare and administer. However, there is currently increasing...

Liver involvement and management in CNM and MTM Some (but not all) people with MTM and CNM have occasionally experienced abnormal liver function blood test results. Very rarely there are more severe liver related complications. We have provided liver recommendations...

Zak provides us with his experience of managing his home care with an Personal Health Budget (NHS Continuing Healthcare) I have a personal health budget which is a way of self-managing your care under NHS Continuing Healthcare (UK). I have opted for a version where I...

Jeno, an adult living with myotubular myopathy, provides us with his personal account of cholesteatoma surgery, to remove a benign lump in his inner ear. Definition of Cholesteatoma - a growth in the middle ear and/or mastoid process. Presenting symptoms commonly...

Games changing lives Special Effects is a UK charity bringing fun, friendship and inclusion into the lives of people with physical disabilities by helping them to play video games. If you have a physical disability that limits or stops you from playing video games, do...

By Zak Hughes "I was born with a rare muscle condition called x-linked myotubular myopathy, which affects my safe breathing, swallowing function and my ability to move freely. For this reason I have relied substantially on others to meet my care needs - for the first...

Gastrostomy (stomach feeding tube) or 'PEG', by an adult manifesting female carrier of XLMTM I realised there was a problem with my swallow when I started to eat rice, it kept coming back up and made me choke (this is called ‘reflux’). My care team referred me for an...

Signs and symptoms of being a 'manifesting' x-linked myotubular myopathy (XLMTM) female carrier and considerations for family planning...  Since I was a child I’ve been having lots of muscle weakness symptoms but didn’t really think too much about it. In fact both my...

Sharing experiences - perhaps reading material that resonates - can be a powerful support tool for us when we experience something extraordinary. There have been a number of publications over the years, written by parents and individuals within our own patient...

A personal perspective: The decision for a Tracheostomy (trache*)... Today, we can see all the benefits of a trache* - our son Erdi (who has RYR1 centronuclear myopathy) can now concentrate all of his energy on just enjoying life, instead of trying to breathe. But it...

This information is for families with variant(s) in the Titin gene (TTN). Changes in a gene are called mutations or variants. These changes may cause muscle weakness as well as heart problems. You will need to discuss with your medical team to see if and how your...

Free resources for psychological support and where to access urgent help... This factsheet details various types of resources for psychological support including where to access urgent help. It includes information on accessing one to one therapy, where to access...

Elijah's trip of a lifetime... We had an amazing trip to Disneyland Paris with our son Elijah after a friend/work colleague kindly helped to raise funds for some new equipment, and a holiday for our family. I never thought we could ever manage a trip abroad, but we...