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Sporadic late onset nemaline myopathy.
Neurology. 2005 Oct 25; 65(8):1158-64.Neur

Abstract

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-mum-thick frozen sections stained trichromatically or immunostained for alpha-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.

Authors+Show Affiliations

Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

16148261

Citation

Chahin, Nizar, et al. "Sporadic Late Onset Nemaline Myopathy." Neurology, vol. 65, no. 8, 2005, pp. 1158-64.
Chahin N, Selcen D, Engel AG. Sporadic late onset nemaline myopathy. Neurology. 2005;65(8):1158-64.
Chahin, N., Selcen, D., & Engel, A. G. (2005). Sporadic late onset nemaline myopathy. Neurology, 65(8), 1158-64.
Chahin N, Selcen D, Engel AG. Sporadic Late Onset Nemaline Myopathy. Neurology. 2005 Oct 25;65(8):1158-64. PubMed PMID: 16148261.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sporadic late onset nemaline myopathy. AU - Chahin,Nizar, AU - Selcen,Duygu, AU - Engel,Andrew G, Y1 - 2005/09/07/ PY - 2005/9/9/pubmed PY - 2006/4/15/medline PY - 2005/9/9/entrez SP - 1158 EP - 64 JF - Neurology JO - Neurology VL - 65 IS - 8 N2 - 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-mum-thick frozen sections stained trichromatically or immunostained for alpha-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. SN - 1526-632X UR - https://www.unboundmedicine.com/medline/citation/16148261/Sporadic_late_onset_nemaline_myopathy_ L2 - http://www.neurology.org/cgi/pmidlookup?view=long&pmid=16148261 DB - PRIME DP - Unbound Medicine ER -