Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody.

@article{Behbehani2007MitochondrialOW,
  title={Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody.},
  author={Raed Behbehani and Khaja M. Sharfuddin and J T Anim},
  journal={Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society},
  year={2007},
  volume={27 1},
  pages={
          41-4
        }
}
  • R. Behbehani, K. Sharfuddin, J. T. Anim
  • Published 1 March 2007
  • Medicine, Biology
  • Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
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… 
View on PubMed
content.lib.utah.edu
9 Citations
Highly Influential Citations
1
Background Citations
1

9 Citations

Citation Type

Citation Type

Autosomal Dominant Type of Chronic Progressive External Ophthalmoplegia With Elevated Acetylcholine Receptor Binding Antibody
TLDR
A case of AD-type CPEO with elevated acetylcholine receptor binding antibody is reported and a mutation on the SLC25A4 gene is confirmed by molecular analysis.
Mitochondrial pseudomyasthenia.
TLDR
A man with 25 years of asymmetric ptosis, ophthalmoparesis, and facial weakness that partially responded to steroid therapy is described, illustrating the potential of mitochondrial ophthaloparesis to mimic the features of ocular myasthenia.
Progressive External Ophthalmoplegia
TLDR
An evidence-based review of the presenting neuro-ophthalmic features, differential diagnosis, diagnostic tools, systemic implications, and treatment options for isolated PEO and other PEO-associated mitochondrial syndromes is presented.
Acetylcholine receptor antibodies in patients with genetic myopathies: Clinical and biological significance
Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors
MITOCHONDRIAL DYSFUNCTION PRESENTING AS MYASTHENIC SYNDROME
TLDR
Four cases presenting with myasthenic symptoms but had mitochondrial dysfunction are presented, finding that mitochondria are found in neuromuscular junctions and in skeletal muscle fibers, hence their dysfunction may present with fluctuating muscle strength on exertion.
Neuro Ophthalmology and Oculoplasty
TLDR
This chapter provides an overview of the most common overlapping conditions and attempts to emphasize the most critical clinical and therapeutic considerations.
Прогрессирующая наружная офтальмоплегия
TLDR
This review collected the last data about etiology, spectrum of clinical symptoms, differential diagnosis, diagnostical methods and treatment options for isolated chronic PEO and other PEO-associated mitochondrial syndromes.
Oculoplastic Surgery: A Practical Guide to Common Disorders

References

SHOWING 1-10 OF 12 REFERENCES
External ophthalmoplegia with ragged-red fibres and acetylcholine receptor antibodies.
TLDR
The cases of two elderly women with external ophthalmoplegia, generalized muscle weakness and serum anti-acetylcholine receptor antibodies, and elevated serum lactic acid levels and ragged-red muscle fibres in the muscle biopsy, are presented.
Multiple cranial mononeuropathies with acetylcholine receptor antibody in mitochondrial diabetes.
TLDR
Among the characteristics, bilateral facial palsy and ophthalmoplegia (right eye) were noteworthy because they have not been reported in mitochondrial diabetes associated with other pathogenetic mutations and suggest the heterogeneity of mitochondrial (mt)DNA-related diabetes.
Acetylcholine receptor antibodies in the Lambert‐Eaton myasthenic syndrome
TLDR
It is pointed out that acetylcholine receptor antibodies are not necessarily diagnostic of myasthenia gravis in patients with Lambert-Eaton syndrome, and these antibodies could represent a nonpathogenic epiphenomenon.
Single fiber electromyography in chronic progressive external ophthalmoplegia
TLDR
The frequency with which abnormal jitter is found in CPEO suggests that, in addition to a mild generalized myopathy, a primary defect in neuromuscular transmission may be present.
Acetylcholine Receptor Antibodies in Patients with Graves' Ophthalmopathy
  • D. Jacobson
  • Medicine, Biology
    Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
  • 1995
TLDR
AChR-binding antibody seropositivity occurs in a small proportion of patients with Graves' ophthalmopathy but, by itself, does not necessarily identify an individual with concurrent myasthenia gravis or an individual at risk to develop myast Hennessy gravis.
Characterization of acetylcholine receptor antibodies in a patient with primary biliary cirrhosis
TLDR
Antibodies against the acetylcholine receptor were found in a patient with primary biliary cirrhosis who had no clinical or electrophysiological evidence of disturbed neuromuscular function and showed the same capacity to bind in vivo to mouse muscle receptors as immunoglobulins from patients with myasthenia gravis.
Ocular motility findings in chronic progressive external ophthalmoplegia
TLDR
Almost all patients with chronic progressive external ophthalmoplegia had an exo-deviation and the majority of patients had symmetry of EOM limitation, more common than expected.
Usefulness of Single Fiber EMG for Distinguishing Neuromuscular from Other Causes of Ocular Muscle Weakness
TLDR
It is concluded that single fiber electromyelography is useful in the separation of ocular myasthenia gravis from other causes of oculomotor weakness except mitochondrial myopathy and oculopharyngeal dystrophy.
Ocular myastyenia gravis: The diagnostic yield of repetitive nerve stimulation and stimulated single fiber EMG of orbicularis oculi muscle and infrared reflection oculography
TLDR
It is demonstrated that the orbicularis oculi muscle is a suitable muscle for stimulated SFEMG in patients with ocular MG, and that the results obtained with this technique showed a better relation with the clinical diagnosis than those of the two other techniques.
Acetylcholine Receptor Antibodies in Primary Biliary Cirrhosis: Characterization of Antigen and Idiotypic Specificity
TLDR
A difference in the fine specificity between acetylcholine receptor antibodies in primary biliary cirrhosis and in myasthenia gravis is indicated.
...
1
2
...