OPMD is caused by a fault in the gene that codes for poly(A) binding protein 2 (PABP2).  This fault is thought to cause clumps of protein to accumulate in the nucleus (a specialised part of the cell where the DNA is stored). Generally, the first symptoms of OPMD are a weakness of the muscles in the eyelids and throat so that keeping the eyes open and swallowing are common problems. The condition is progressive. The facial muscles and limbs can also become affected over time.

OPMD is one of over 60 forms of muscle disease that differ in symptoms and severity. All are the cruel, gradual and cause relentless wasting and weakening of a person’s muscles. Muscle disease can affect babies, children and adults of any race and background. Muscle disease is genetic and often inherited which is what happened in Scott’s case.  However it can also occur out of the blue, even when there is no history within the family. Muscle disease can be obvious from birth or become apparent later in life.

> Read about the charity