Group calls on Govt to approve new treatment for muscular dystrophy
A group representing people who suffer from muscular dystrophy in Ireland, is calling on the Government to approve a new treatment for the condition.
Today is World Duchenne Awareness Day, and Duchenne muscular dystrophy is a serious muscle-wasting condition that primarily affects boys.
Translarna is a new therapy that has received conditional approval from the European Medicines Agency for specific Duchenne patients whose condition is caused by a particular genetic defect in the dystrophin gene.
It is the first treatment to address the underlying genetic cause of Duchenne muscular dystrophy, slowing its progression in patients aged five years and older who are able to walk.
It is available in a number of countries in the European Union but has yet to be offered in Ireland.
Consultant Pediatric Neurologist, Dr Declan O'Rourke, says GPs and public health nurses need to be more aware of the symptoms in young children.
He said: "That they may think about this disease in boys who present with delayed walking and in addition speech delay.
"There is a simple blood test that can be performed to check the muscle enzyme level as a screening tool."
