Results 21 to 30 of about 9,186 (248)

Chronic progressive external ophthalmoplegia [PDF]

Journal of the Neurological Sciences, 1979
Chronic progressive external ophthalmoplegia (CPEO) was first described by Albrecht von Graefe in 1868 and it is appropriate that his photograph graces the cover of this new book. Dr von Graefe looks strangely unhappy in the photograph, as if he had anticipated how little important information would be added about this group of diseases in the 111 ...
  +9 more sources

Frontalis Suspension in Muscular Dystrophy: 16-years Follow-up

Plastic and Reconstructive Surgery, Global Open, 2022
Summary. Acquired eyelid ptosis in adults, with complete loss of levator palpebrae superiosis function, can be a challenging problem to diagnose and treat. A 48-year-old woman with chronic bilateral severe blepharoptosis of 10 years duration is presented,
Badr M. I. Abdulrauf, MD, FRCSC
doaj   +1 more source

Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

Case Reports in Genetics, 2022
A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns–Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions ...
Shir Wey Gloria Pang, Hencher Han Chih Lee, Carol Ng Wing kei, Eric Kin Cheong Yau, Joannie Hui   +4 more
doaj   +1 more source

Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy

BMJ Neurology Open, 2022
Background Mitochondrial disorders are known to cause diverse neurological phenotypes which cause a diagnostic challenge to most neurologists. Pathogenic polymerase gamma (POLG) variants have been described as a cause of chronic progressive external ...
Naomi Warren, Andrew M Schaefer, Robert W Taylor, Emma L Blakely, Sila Hopton, Menatalla Elwan, Kate Craig, Gavin Falkous   +7 more
doaj   +1 more source

MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)

Journal of Neuromuscular Diseases, 2023
Chronic progressive external ophthalmoplegia (CPEO) is symptom complex with progressive ptosis and restricted ocular motility without diplopia. MYH2 myopathy is rare disorder presenting with CPEO and muscle weakness. We report two Indian patients of MYH2
Dipti Baskar, S. Vengalil, S. Nashi, Mainak Bardhan, Kosha Srivastava, S. B. Sanka, K. Polavarapu, D. Menon, V. Preethish-Kumar, H. Padmanabha, G. Arunachal, A. Nalini   +11 more
semanticscholar   +1 more source

Mitochondrial Neurogastrointestinal Encephalopathy Disease: A Rare Disease Diagnosed in Siblings with Double Vision

Case Reports in Ophthalmology, 2021
Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal recessive condition characterized by gastrointestinal dysmotility, external ophthalmoplegia, leukoencephalopathy, and sensorimotor neuropathy.
Armin Farahvash, Charles D. Kassardjian, Jonathan A. Micieli   +2 more
doaj   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment [PDF]

, 2020
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in TYMP, the gene encoding for the enzyme thymidine phosphorylase.
Bax, BE
core   +1 more source

Successful Endovascular Embolization of Bilateral Spontaneous Carotid Cavernous Fistula for a Patient Presenting With Bilateral Vision Deterioration: A Case Report and Literature Review. [PDF]

Clin Case Rep
Cerebral angiography with External Carotid artery injection in (A, C) and internal carotid artery injection in (B): showing visualization of bilateral cavernous sinus from both external and internal carotid arteries. ABSTRACT Spontaneous bilateral CCF is rare and often misdiagnosed. Clinicians should consider CCF in patients with headache, tinnitus, or
Elmarasi M, Elsayed A, Khan MM, Hussein M, Mohammed K, Ayyad A.   +5 more
europepmc   +2 more sources

Extra-ocular muscle MRI in genetically-defined mitochondrial disease [PDF]

, 2015
Conventional and quantitative MRI was performed in patients with chronic progressive external ophthalmoplegia (CPEO), a common manifestation of mitochondrial disease, to characterise MRI findings in the extra-ocular muscles (EOMs) and investigate whether
Cathy Woodward, Christopher D. J. Sinclair, Fion Bremner, Gordon T. Plant, Indran Davagnanam, Jasper M. Morrow, John S. Thornton, Mary G. Sweeney, Michael G. Hanna, Nadeem Ali, Robert D. S. Pitceathly, Shamima Rahman, Tarek A. Yousry   +12 more
core   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli, Adams, Amyot, Barbeau, Bosch, Bray, Campanella, Cohen, Cox, Coërs, Croft, Direkze, Dutil, Fried, Fuchs, Goto, Graef von, Graf, Hartmann, Hayes, Julien, Kearns, Kiloh, Krause, Lakin, Lees, Lewis, Liversedge, Lundberg, Man, Maningand, Mater, Matsunaga, Murphy, Myrianthopoulos, Nicolaissen, Peterman, Radu, Rebeiz, Roberts, Satoyoshi, Saucier, Schmitt, Schmitt, Schotland, Schwarz, Szobar, Taylor, Victor, Zellweger   +49 more
core   +1 more source