Nemaline Myopathy is a neuromuscular disorder that causes weakness and poor tone in the voluntary muscles, particularly those of the upper body, face, throat, and respiratory system.
Affected children usually have delayed motor development and may need orthotics. In severe cases, respiratory problems can lead to death, though people with milder Nemaline Myopathy can lead long, active lives.
Approximately 1 in 120 Ashkenazi Jews is a carrier of Nemaline Myopathy. Screening will detect 95% of carriers in this population.