Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody.

Abstract

A 25-year-old man with chronically progressive ptosis and bilateral ophthalmoplegia displayed fatigability and fluctuation of ptosis, an abnormal single-fiber electromyogram, and a markedly elevated acetylcholine receptor antibody level. Yet a muscle biopsy showed clear evidence of a mitochondrial cytopathy, and the clinical features did not improve after treatment with prednisone. This case emphasizes the difficulty in differentiating mitochondrial cytopathy from myasthenia gravis and points out that elevated acetylcholine receptor antibody levels may occur in nonmyasthenic conditions.

• Authors: Raed Behbehani, Khaja Sharfuddin, J T Anim
• Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society (J Neuroophthalmol) Vol. 27 Issue 1 Pg. 41-4 (Mar 2007) ISSN: 1070-8022 [Print] United States
• PMID: 17414872 (Publication Type: Case Reports, Journal Article)

Chemical References

• Antibodies
• Biomarkers
• Receptors, Cholinergic

Topics

• Adult
• Antibodies (blood)
• Biomarkers (blood)
• Biopsy
• Diagnosis, Differential
• Disease Progression
• Electromyography
• Electroretinography
• Eye Movements (physiology)
• Follow-Up Studies
• Humans
• Magnetic Resonance Imaging
• Male
• Microscopy, Electron
• Muscle Fatigue (physiology)
• Oculomotor Muscles (physiopathology, ultrastructure)
• Ophthalmoplegia, Chronic Progressive External (blood, immunology, physiopathology)
• Receptors, Cholinergic (immunology)