Nemaline, or rod, myopathies are a group of conditions which fall under the umbrella of congenital myopathies. They are characterised by rod-like structures in the muscle cells, and clinical features such as muscle weakness, breathing problems, and feeding problems. There are six sub-groups which are defined according to age of onset and severity.
Around one in 50,000 individuals are estimated to be affected, and these include both males and females. In the majority of cases (90 percent) the condition becomes apparent at birth or early childhood, although in very rare cases, it does not become apparent until adulthood. There is currently no effective treatment or cure to halt the progression, but management of the condition is very important and includes physiotherapy, and where necessary the use of ventilation and/or a feeding tube.