Use

NEB-related nemaline myopathy typically presents with symptoms such as hypotonia, feeding difficulties, and muscle weakness within the first year of life. It mainly affects the face, neck, arms, and legs. Although muscle weakness can be static or progress slowly, this condition usually does not lead to a decreased lifespan. It is caused by pathogenic variants in the NEB gene, with an exon 55 deletion being a key variant tested, particularly in individuals of Ashkenazi Jewish descent. Carrier screening or diagnostic testing for this condition is significant for identifying risks and potential hereditary passage.