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
