HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Figures Only Full Text Full Text (PDF) CME: Take the course for this article: Volume 65, Number 8, October 25, 2005 All Versions of this Article: 01.wnl.0000180362.90078.dcv1 65/8/1158    most recent Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Chahin, N. Articles by Engel, A. G. Search for Related Content PubMed PubMed Citation Articles by Chahin, N. Articles by Engel, A. G. Related Collections Muscle disease

Sporadic late onset nemaline myopathy

From the Department of Neurology and Muscle Research Laboratory, Mayo Clinic, Rochester, MN.

Address correspondence and reprint requests to Dr. Andrew G. Engel, Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905; e-mail: age{at}mayo.edu

Objective: To review the clinicopathologic features and outcome of sporadic late onset nemaline myopathy (SLONM).

Background: Non-HIV–related SLONM is an uncommon disease of undefined etiology.

Methods: This study is based on clinical, EMG, histochemical, immunocytochemical, and electron microscopy evaluation, and long-term follow-up of 14 patients observed at the Mayo Clinic between 1975 and 2003.

Results: The disease presented between 43 and 81 years and evolved subacutely. The weakness was predominantly proximal in 11, equal proximally and distally in 3, and asymmetric in 4; dysphagia was a symptom in 6. The EMG showed myopathic features with fibrillations but the serum CK level at the time of initial examination or reevaluation was normal or below the Mayo Clinic’s range of normal values for sex and age at the time of the assay. Seven patients had an associated monoclonal gammopathy. On light microscopy, the nemaline structures were best identified in 3-µm-thick frozen sections stained trichromatically or immunostained for -actinin or myotilin. Electron microscopy done in 12 cases identified the rods in all and revealed additional structural abnormalities. Seven patients with monoclonal gammopathy were followed for 1 to 5 years; five died of respiratory failure. Five patients without monoclonal gammopathy were followed for 4 to 23 years and none died of the disease. Immunotherapy in eight patients was of uncertain benefit.

Conclusions: 1) Subacutely evolving weakness after age 40, normal to low CK level, myopathic EMG with fibrillations, and often a monoclonal gammopathy are clues for the diagnosis of sporadic late onset nemaline myopathy. 2) The diagnosis is confirmed by visualizing the rods in trichrome or immunostained cryosections. 3) An associated monoclonal gammopathy heralds an unfavorable prognosis.

This article was previously published in electronic format as an Expedited E-Pub on September 7, 2005, at www.neurology.org.

Supported in part by NIH grant NS6277.

Disclosure: The authors report no conflicts of interest.

Received May 20, 2005. Accepted in final form July 7, 2005.

This article has been cited by other articles:

				M. C. Dalakas and S. A. Smith A "nema" of hope in the treatment of late-onset nemaline myopathy Neurology, August 12, 2008; 71(7): 472 - 473. [Full Text] [PDF]

				O. Benveniste, P. Laforet, O. Dubourg, S. Solly, L. Musset, S. Choquet, N. Azar, M. Fardeau, S. Herson, V. Leblond, et al. STEM CELL TRANSPLANTATION IN A PATIENT WITH LATE-ONSET NEMALINE MYOPATHY AND GAMMOPATHY Neurology, August 12, 2008; 71(7): 531 - 532. [Full Text] [PDF]

				N. C. Voermans, M. Minnema, M. Lammens, H. J. Schelhaas, A.v.d. Kooi, H. M. Lokhorst, and B. G. van Engelen SPORADIC LATE-ONSET NEMALINE MYOPATHY EFFECTIVELY TREATED BY MELPHALAN AND STEM CELL TRANSPLANT Neurology, August 12, 2008; 71(7): 532 - 534. [Full Text] [PDF]

				D Hutchinson and K Whyte Neuromuscular disease and respiratory failure Practical Neurology, August 1, 2008; 8(4): 229 - 237. [Abstract] [Full Text] [PDF]

				P. Brancaccio, N. Maffulli, and F. M. Limongelli Creatine kinase monitoring in sport medicine Br. Med. Bull., June 14, 2007; (2007) ldm014v1. [Abstract] [Full Text] [PDF]

				J Pavlu, M P Carey, and J B Winer Hypothyroidism and nemaline myopathy in an adult J. Neurol. Neurosurg. Psychiatry, May 1, 2006; 77(5): 708 - 709. [Full Text] [PDF]

				C. E. Keller, A. P. Hays, L. P. Rowland, B. Moghadaszadeh, A. H. Beggs, and G. Bhagat Adult-Onset Nemaline Myopathy and Monoclonal Gammopathy Arch Neurol, January 1, 2006; 63(1): 132 - 134. [Abstract] [Full Text] [PDF]