Sporadic late onset nemaline myopathy

摘要: Objective: To review the clinicopathologic features and outcome of sporadic late onset nemaline myopathy (SLONM). Background: Non-HIV–related SLONM is an uncommon disease undefined etiology. Methods: This study based on clinical, EMG, histochemical, immunocytochemical, electron microscopy evaluation, long-term follow-up 14 patients observed at Mayo Clinic between 1975 2003. Results: The presented 43 81 years evolved subacutely. weakness was predominantly proximal in 11, equal proximally distally 3, asymmetric 4; dysphagia a symptom 6. EMG showed myopathic with fibrillations but serum CK level time initial examination or reevaluation normal below Clinic’s range values for sex age assay. Seven had associated monoclonal gammopathy. On light microscopy, structures were best identified 3-μm-thick frozen sections stained trichromatically immunostained α-actinin myotilin. Electron done 12 cases rods all revealed additional structural abnormalities. gammopathy followed 1 to 5 years; five died respiratory failure. Five without 4 23 none disease. Immunotherapy eight uncertain benefit. Conclusions: 1) Subacutely evolving after 40, low level, fibrillations, often are clues diagnosis myopathy. 2) confirmed by visualizing trichrome cryosections. 3) An heralds unfavorable prognosis.