Results 31 to 40 of about 13,407 (248)

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

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

A variable neurodegenerative phenotype with polymerase gamma mutation [PDF]

, 2009
mtDNA replication and repair, causes mitochondrial diseases including autosomal dominant progressive external ophthalmoplegia (PEO),1 childhood hepato-encephalopathy (Alpers– Huttenlocher syndrome), adult-onset spinocerebellar ataxia, and sensory nerve
Baruffini, E., Endres, M., Horvath, Rita, Lodi, T., Meisel, A., Prüss, H., Siebert, E., Stricker, S., Zschenderlein, R.   +8 more
core   +1 more source

Unilateral external ophthalmoplegia in Miller Fisher syndrome: case report

BMC Ophthalmology, 2007
Background A description of the diagnostic features of Miller Fisher syndrome. Case presentation The clinical presentation, investigation, and subsequent progress of our patient with clinical unilateral external ophthalmoplegia.
Severn Philip, Clarke Lucy, Smith Jonathan, Boyce Robert   +3 more
doaj   +1 more source

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

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

Gastrointestinal Beriberi and Wernicke’s Encephalopathy Triggered by One Session of Heavy Drinking

Case Reports in Neurology, 2019
An otherwise healthy 30-year-old male acquired gastrointestinal beriberi and subsequent Wernicke’s encephalopathy after 1 session of heavy drinking. Nausea, vomiting, and anorexia relentlessly progressed.
Elysia Tjong, Yen-Yi Peng
doaj   +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

Clinical and magnetic resonance imaging features of idiopathic oculomotor neuropathy in 14 dogs: Canine Idiopathic Oculomotor Neuropathy [PDF]

, 2017
Ophthalmoplegia/ophthalmoparesis (internal, external, or both) has been reported in dogs secondary to neoplasia affecting the oculomotor nerve and is usually given a poor prognosis.
Beltran, E, Dennis, R, Freeman, C, Hartley, C, Tetas Pont, R   +4 more
core   +2 more sources

Progression of myopathology in Kearns-Sayre syndrome [PDF]

, 1992
We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers.
B. Meurers, CT Moraes, H Reichmann, Heinz Reichmann, I Nonaka, JA Morgan-Hughes, M. Naumann, P. Seibel, R. Gold, T. Klopstock, U. Walter, V Dubowitz   +11 more
core   +1 more source