Sporadic late-onset nemaline myopathy

Sporadic late-onset nemaline myopathy
Other namesSLONM

Sporadic late-onset nemaline myopathy, or SLONM, is a very rare disease, one of the nemaline myopathies, causing loss of muscle bulk and weakness in the legs but sparing the cranial nerves, and beginning its clinical course after age 40.[1] It was first identified in 1966 at the Mayo Clinic, by A.G. Engel,[2] and that same year W.K. Engel and J.S. Resnick noted another case that they elaborated in 1975.[3][4] The diagnosis of the disease rests on subacutely evolving weakness after age 40, normal to low CK level, a myopathic EMG with fibrillations, and often a monoclonal gammopathy. The diagnosis is confirmed by visualizing rods in cryosections on light and electron microscopy. The associated monoclonal gammopathy has an unfavorable prognosis.

  1. ^ Chahin N, Selcen D, Engel AG (October 2005). "Sporadic late onset nemaline myopathy". Neurology. 65 (8): 1158–64. doi:10.1212/01.wnl.0000180362.90078.dc. PMID 16148261. S2CID 23334154.
  2. ^ Engel AG (November 1966). "Late-onset rod myopathy (a new syndrome?): light and electron microscopic observations in two cases". Mayo Clinic Proceedings. 41 (11): 713–41. PMID 5957590.
  3. ^ Engel, W.K.; Resnick, J.S. (1966). "Late onset rod myopathy: a newly recognized, acquired, and progressive disease". Neurology. 16 (3): 308–9. doi:10.1212/wnl.16.3.299. S2CID 219213521.
  4. ^ Engel WK, Oberc MA (March 1975). "Abundant nuclear rods in adult-onset rod disease". Journal of Neuropathology and Experimental Neurology. 34 (2): 119–32. doi:10.1097/00005072-197503000-00001. PMID 47386. S2CID 38570228.