What Causes Nemaline Myopathy?

This disease is caused by a variety of genetic defects, each one affecting one of the filament proteins required for muscle tone and contraction. It can be inherited in an autosomal recessive or autosomal dominant pattern, meaning it can be produced by defective genes contributed by either one or both parents.

Is there a cure for Nemaline myopathy?

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.

How common is Nemaline myopathy?

Nemaline myopathy is a rare disorder that affects males and females. The incidence is unknown although two studies (one in Finland and one in an American Ashkenazi Jewish population) estimated the incidence to be 1 in 50,000 live births. An incidence of 1/500 has been reported in the Amish community.