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Congenital fiber-type disproportion has also been described in numerous other muscle diseases, including several congenital myopathy subtypes (centronuclear myopathy, myotubular myopathy, and nemaline myopathy), as well as in myotonic dystrophy.
The severe form of myotubular myopathy also affects William's breathing and swallowing, meaning he requires round-the-clock care to survive.
But Liam proved a fighter and now his family are over the moon to have celebrated his 18th birthday yesterday - a milestone they never could have dreamed he would reach when he was diagnosed with myotubular myopathy.
This Gloucestershire couple founded the James Hopkins Trust for special children, when they discovered their son, James, had a rare condition called myotubular myopathy, which resulted in his muscles being so weak that even swallowing and coughing were difficult for him.
Other Myopathies This group of unrelated genetic muscle disorders (such as central core disease, nemaline myopathy, myotubular myopathy and mitochondrial myopathy) may cause diffuse weakness, some skeletal defomities and progressive muscle wasting, among other symptoms.
Retrophin is currently developing treatments for focal segmental glomerulosclerosis, Duchenne Muscular Dystrophy, spinal muscular atrophy, cystic fibrosis and myotubular myopathy.
Liam Barker suffers from myotubular myopathy, a muscle wasting disorder which means he can make only very small movements.
Most children with Myotubular Myopathy do not live to see their second birthday and only one per cent survive beyond the age of 10.