A “nema” of hope in the treatment of late-onset nemaline myopathy

Sporadic, late-onset nemaline myopathy (SLONM) presents with subacute onset of proximal > distal muscle weakness in adults above the age of 40.1,2 It can cause head drop, dysphagia, or respiratory insufficiency, leading to severe disability or death. The diagnosis is confirmed with the muscle biopsy that shows abundance of nemaline (from the Greek word nema = thread) rod bodies representing Z-disc disorganization products which immunoreact with α-actinin and myotilin.1 In contrast to heritable nemaline myopathies, the most common nondystrophic congenital myopathies of childhood caused by mutations in the α-skeletal actin, nebulin, or troponin genes,3 the cause of SLONM is unknown. Because at least 50% of SLONM cases are associated with monoclonal gammopathy,1,2,4 and some of them occur in the early stages of HIV infection during the period of immunocompetence,5 an immune dysregulation has been suspected for at least some of them.1,2,4 A causal relationship, however, between the gammopathy and …