Ptosis and Neuromuscular Syndromes

Author(s):  
Shirley H. Wray

emphasizes the clinical importance of a careful patient history detailing the onset of ptosis, its variability, and its progression. A pattern of ocular and generalized muscle weakness is a central diagnostic attribute of impaired nerve conduction due to disease of the neuromuscular junction. Generalized myasthenia gravis, ocular myasthenia gravis, MuSK-myasthenia gravis, and a case of the Lambert-Eaton syndrome illustrate the spectrum of disorders of neuromuscular transmission. The syndrome known as chronic progressive external ophthalmoplegia is by far the most common of the mitochondrial myopathies progressing to the multisystem failure that is characteristic of the Kearns-Sayre syndrome. A case of Kearns-Sayre syndrome followed for 34 years is a unique case study. Two inherited forms of myopathy, oculopharyngeal muscular dystrophy and myotonic dystrophy, are included, together with a patient with the Guillain-Barré syndrome variant, Fisher syndrome. These disorders should always be considered in the differential diagnosis of bilateral progressive ptosis.

2019 ◽  
pp. 127-132
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak

Infranuclear ophthalmoplegia is characterized by global weakness of the extraocular and levator muscles. It has a broad differential diagnosis that varies depending on the tempo of onset. In this chapter, we begin by describing how to differentiate nuclear-infranuclear ophthalmoplegia from supranuclear ophthalmoplegia at the bedside. We next list the common causes of acute onset infranuclear ophthalmoplegia, which include Miller Fisher syndrome, Guillain-Barré syndrome, stroke, and ocular myasthenia. We then list the common causes of chronic progressive infranuclear ophthalmoplegia, which include mitochondrial disorders, oculopharyngeal muscular dystrophy, and myotonic dystrophy. We discuss the clinical features and diagnostic workup of chronic progressive external ophthalmoplegia due to mitochondrial disease. Lastly, we briefly discuss the management of ptosis and diplopia in the setting of chronic progressive external ophthalmoplegia.


Author(s):  
Zakaria Barsoum

AbstractMiller Fisher syndrome (MFS) is a rare immune-mediated neuropathy that often presents with diplopia and bilateral external ophthalmoplegia. Other neurological deficits may occur such as ataxia and areflexia but not in all cases. Although MFS is a clinical diagnosis, serological confirmation is possible by identifying the anti-GQ1b antibody found in the majority of patients. Myasthenia gravis is an autoimmune disorder of the availability of acetylcholine receptors in the neuromuscular junction. Ocular myasthenia gravis is a disease subtype characterized by variable patterns of weakness of extraocular muscles, eyelid elevator, and orbicular muscle in which the initial sign in most adults and children is ptosis. We report a child with MFS who presented with clinical signs suggestive of ocular myasthenia gravis, but in whom the correct diagnosis was made on the basis of serological testing for the anti-GQ1b antibody. We aim to highlight the similarity between the two rare conditions and address the importance of early liaison with neurologists and ophthalmologists in reaching to the proper diagnosis.


2012 ◽  
Vol 2 (2) ◽  
pp. 92-93
Author(s):  
Nazmul Haque ◽  
Rukhsana Parvin ◽  
Naser Ahmed ◽  
AKM Rafique Uddin

Myasthenia gravis is the most frequent autoimmune neuromuscular transmission disorder  with incidence of 2-20 patients per million. Its pathophysiology is autoimmune, with  acetylcholine receptor auto antibodies damaging the post-synaptic fold at the muscle  membrane. The diagnostic confirmation of myasthenia gravis is often challenging. Ice-oneyes  test can be used to diagnose this disease for its simplicity, safety and cost-effectiveness. Here we report a case of myasthenia gravis in Enam Medical College Hospital, Savar, Dhaka where ice-on-eyes test was done with improvement of ptosis of the patient. Aim of this case  report is to make aware our physicians to apply this simple bed side test instead of common  traditional edrophonium (tensilon test) test for confirmation of the diagnosis of ocular myasthenia gravis. DOI: http://dx.doi.org/10.3329/jemc.v2i2.12845 J Enam Med Col 2012; 2(2): 92-93  


2012 ◽  
Vol 89 (12) ◽  
pp. e118-e123 ◽  
Author(s):  
Scott A. Anthony ◽  
Matthew J. Thurtell ◽  
R. John Leigh

2016 ◽  
Vol 22 ◽  
pp. 277-278
Author(s):  
Lima Lawrence ◽  
Aleida Rodriguez ◽  
Tahira Yasmeen ◽  
Erin Drever

Author(s):  
Gordon Plant

Ocular myasthenia is not the most severe form of myasthenia but it might cause certain difficulties to diagnose. In this article, we shall discuss the clinical presentations of ocular myasthenia, its differential diagnostics, examinations and management. Keywords: ocular myasthenia gravis, diagnosis, examination, management.


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