It is characterized by vertical gaze palsy and ophthalmoplegia. This state of akinetic mutism varies in intensity, but it is ...

Mariak, Zenon; Mariak, Zofia; Lewko, J.; Łebkowski, Wojciech (September 15, 1992). "Internal ophthalmoplegia as a direct ...

"POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness". Neurology. 62 (2): 316-318. doi: ... presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia". ...

Ocular symptoms may include retinal degeneration, ophthalmoplegia, and ptosis. Those with MNGIE are often thin and experience ... It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and POLIP syndrome. The disease ...

Ophthalmoplegia usually occurs either concurrently or within 1 week after the onset of headache, and less commonly up to 2 ... Similar to headache, ophthalmoplegia usually resolve gradually and completely over time, but recovery may be incomplete after ... Therefore, it was postulated that migraine caused ophthalmoplegia in RPON. However, the major argument against a migrainous ... Depending on the severity of symptoms, various treatment options are available to people with persistent ophthalmoplegia. For ...

Involvement of the facial muscles may cause ophthalmoplegia or ptosis. A mutation in the RYR1 gene causing CNM may also cause ...

Occasionally, ptosis, chemosis, motility dysfunction (ophthalmoplegia), and optic neuropathy are seen. In the setting of ...

Hirano M, DiMauro S (December 2001). "ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia". Neurology. 57 ( ... Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ... progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ... "Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA ...

This presents with the classical triad of ataxia, areflexia and ophthalmoplegia. Studies of these antibodies reveal large ... Anti-GQ1b IgG levels were elevated in patients with ophthalmoplegia in Guillain-Barré syndrome Microbial agents include: ...

"A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia". Neuromuscul. Disord. 13 (7-8): 568- ...

Clinical manifestations can include lactic acidosis, cerebral degeneration, ophthalmoplegia, ataxia, spasticity, and dystonia ... "Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations". Pediatric Neurology. 36 (1): 54-7. doi:10.1016/j. ...

The most common finding is oculomotor nerve dysfunction leading to ophthalmoplegia. This is often accompanied by ophthalmic ...

Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions. ... "Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia". American Journal of Human ... "Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia". American Journal of Human ... Mutations in POLG2 have been associated with progressive external ophthalmoplegia with mitochondrial DNA deletions. This ...

Mutations in this gene have been shown to cause progressive external ophthalmoplegia. Increased expression of RRM2B has been ... identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia". Genome ...

He had a right ophthalmoplegia that persisted for approximately 1 week post-envenoming.". According to Rob Bredl, "the Barefoot ... "Neurotoxicity with persistent unilateral ophthalmoplegia from envenoming by a wild inland taipan (Oxyuranus microlepidotus, ...

Ophthalmoplegia, nystagmus, ptosis, myopia, hyperopia, microphthalmia and lacrimal duct stenosis can also occur. Otologic ...

"Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions". Nature Genetics. 28 ...

Neurotoxic symptoms (ptosis, ophthalmoplegia, bulbar paralysis, and peripheral muscular weakness) developed in 85%. ...

Also, he provided early descriptions of optic neuritis (1860), chronic progressive external ophthalmoplegia (1868). and ... 302-309 MR of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia AJNR Am J Neuroradiol 19:95-99, January 1998 ...

The classic triad of symptoms found in Wernicke encephalopathy is: ophthalmoplegia (later expanded to other eye movement ... Classically, Wernicke encephalopathy is characterised by a triad of symptoms: ophthalmoplegia, ataxia, and confusion. Around 10 ... ophthalmoplegia or nystagmus, and unexplained hypotension with hypothermia. The presence of only one sign should be sufficient ...

Optic neuritis Ophthalmoplegia Glaucoma Neil R. Miller, Nancy J. Newman, Valérie Biousse, John B. Kerrison. Walsh & Hoyt's ...

"Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia". ...

... ataxia and ophthalmoplegia must be present. These are also diagnostic features of Miller Fisher syndrome, and so Bickerstaff's ... as well as other conditions associated with anti-ganglioside antibodies such as chronic ophthalmoplegia with anti-GQ1b antibody ...

Deep tendon reflexes are usually decreased or absent, and ophthalmoplegia and bulbar palsy can occur.[citation needed] ...

"Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance ...

Menon GJ, Thaller VT (November 2002). "Therapeutic external ophthalmoplegia with bilateral retrobulbar botulinum toxin- an ...

Functional: Functional hypermetropia results from paralysis of accommodation as seen in internal ophthalmoplegia, CN III palsy ...

... most notably internuclear ophthalmoplegia (INO). The sixth nerve is one of the final common pathways for numerous cortical ...

... ophthalmoplegia (paralysis of the muscles that control the movement of the eye), and psychiatric changes". Others describe ... toxic ophthalmoplegia, epidemic stupor, epidemic lethargic encephalitis, acute polioencephalitis, Heine-Medin disease, bulbar ...

Machado-Joseph disease (MJD) is a triplet repeat disease characterized by cerebellar ataxia, pyramidal signs, ophthalmoplegia, ...