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Neuromuscular Junction Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Diana Mnatsakanova, Qin Li Jiang
Chronic progressive external ophthalmoplegia: Patients generally do not complain of diplopia in the presence of very restricted extraocular movements, which is typically more severe than seen in MG.Retinal degeneration can coexist, and more generalized muscle weakness can occur later in the disease course.
The locomotor system
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
Mitochondrial myopathies have only relatively recently been characterized. Deficiencies in oxidative enzymes are now known to be responsible. Many are due to mutations in mitochondrial rather than genomic DNA and are therefore inherited through the maternal line. Many patients present with chronic progressive external ophthalmoplegia, with paralysis of external ocular muscles and mild limb weakness. Cardiac conduction defects, retinopathy, and seizures may also be present.
Mitochondrial Pathologies and Their Neuromuscular Manifestations
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
Carlos Ortez, Andrés Nascimento
MNGIE is a multisystem mitochondrial disorder, which has an autosomal recessive mode of inheritance. MNGIE is due to mutations in the TYMP gene encoding thymidine phosphorylase, which promotes the phosphorylation of thymidine to thymine and deoxyribose-1-phosphate122. The clinical presentation is dominated by digestive symptoms with severe gastrointestinal dysmotility resulting in progressive cachexia. Clinical manifestations include borboryghms, postprandial emesis, early satiety, dysphagia, gastroesophageal reflux disease, episodic abdominal distensive pain, ascites, diarrhea, and usually begin before the age of 20123. Additional manifestations can include progressive external ophthalmoplegia, pigmentary retinopathy, dysphonia, myopathy and diffuse leukoencephalopathy (present in all patients). PNS involvement in MNGIE is constant but with varying degrees of severity and usually presents as a sensori-motor demyelinating PNP, responsible for distal weakness and atrophy predominantly affecting the lower limbs123. MNGIE is suspected in patients with elevated thymidine and decreased thymidine phosphorylase activity in blood. The diagnosis is confirmed by the identification of mutations in both alleles of the TYMP gene. Navajo Neuro-hepatopathy.
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
OPMD is caused by pathological GCG trinucleotide repeat expansions within the polyadenylate-binding protein nuclear 1 (PABPN) gene.82 Most cases are transmitted in an autosomal dominant pattern, although some occur in a recessive or sporadic fashion.68,83 Oculopharyngeal muscular dystrophy (OPMD) is a progressive disorder with onset in the fifth and sixth decade of life characterized by ptosis, ophthalmoplegia, and/or dysphagia.66 Ptosis is the most common presenting sign of OPMD due to the weakness of the levator palpebrae.84 However, all facial muscles can be affected, including the weakness of the orbicularis oculi, which can induce difficulty closing the eyes. Asymmetrical impairment of extraocular muscles is possible in advanced stages, occasionally with diplopia. Complete external ophthalmoplegia is uncommon.85 Dysphagia usually follows ptosis by several years, but occasionally is the first symptom.66 With time, additional muscles may become involved including those of the upper legs and arms (proximal limb weakness). To confirm the diagnosis genetic testing is available.
Total external ophthalmoplegia and Sjögren’s syndrome
Published in Strabismus, 2020
Dear Editor, we read the publication on “Total external ophthalmoplegia: First clinical manifestation of Sjögren’s syndrome (SS)” with great interest.1 Singh concluded that “total external ophthalmoplegia can be added to the spectrum of central nervous system involvement in SS.1” We would like to share ideas on this report on SS. Indeed, SS is an important disease but it is usually late diagnosed by practitioner.2 In early disease, the patient might have only nonspecific clinical problems such as musculoskeletal pain and fatigue.2 In a previous report, the musculoskeletal pain is detected in up to 40% of the patients.2 Also, the diagnosis of SS is usually based on Classification criteria by the American-European Consensus Group (AECG); therefore, it is not possible to diagnose SS with only on clinical presentation. In addition, SS might be a clinical presentation in the patient. However, it is also possible that total external ophthalmoplegia might be due to other underlying pathologies. Without SS, a patient with diabetes mellitus might develop diabetic ophthalmoplegia and it can also have additional retinopathy.3
Hairpulling causing vision loss: a case report
Published in Orbit, 2019
Sidharth Puri, Sarah Madison Duff, Brett Mueller, Mark Prendes, Jeremy Clark
External examination revealed a diffuse, boggy fluctuant mass extending from the crown of the head with extension to the parietal ridge, temple, and left supraorbital ridge. Neurologic and airway examinations were unremarkable. Ophthalmologic examination demonstrated visual acuity (VA) of 20/20 in the right (OD) eye and 20/40 OS. There was no afferent pupillary defect. There was significant proptosis OS, with tight left upper and lower eyelid edema, and chemosis with trace subconjunctival hemorrhage (Figure 1). Extraocular movements were full OD. Complete external ophthalmoplegia of OS was appreciated. Intraocular pressure was measured to be 22 mm Hg OD and 39 mm Hg OS. Funduscopic exam of the left eye was normal, with a healthy appearing optic nerve. Emergent bedside lateral canthotomy and superior/inferior cantholysis was performed for orbital compartment syndrome of the left eye, with a subsequent check of intraocular pressure measuring 25 mm Hg.