Document Detail

Sporadic late onset nemaline myopathy.
MedLine Citation:
PMID:  16148261     Owner:  NLM     Status:  MEDLINE    
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.
Nizar Chahin; Duygu Selcen; Andrew G Engel
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.     Date:  2005-09-07
Journal Detail:
Title:  Neurology     Volume:  65     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2005-10-25     Completed Date:  2006-04-14     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1158-64     Citation Subset:  AIM; IM    
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
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MeSH Terms
Aged, 80 and over
Creatine Kinase / blood
Diagnosis, Differential
Disease Progression
Follow-Up Studies
Inclusion Bodies / pathology,  ultrastructure
Microscopy, Electron, Transmission
Middle Aged
Muscle Weakness / etiology,  physiopathology
Muscle, Skeletal / pathology*,  physiopathology*,  ultrastructure
Myopathies, Nemaline / diagnosis*,  physiopathology*
Neurologic Examination
Paraproteinemias / complications,  diagnosis
Grant Support
Reg. No./Substance:
EC Kinase

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