نتایج جستجو برای: ophthalmoparesis
تعداد نتایج: 130 فیلتر نتایج به سال:
Mutations in the epsilon-acetylcholine receptor (AChR-epsilon) subunit gene cause congenital myasthenic syndromes (CMS) with postsynaptic neural transmission defects. The authors present 3 male and 2 female patients from three unrelated Croatian, Hungarian, and Russian families with autosomal recessive CMS. All patients manifested with variable degrees of ophthalmoparesis and generalized, fatig...
Polymerase gamma is a mitochondrial DNA polymerase, that responsible for the replication of (mtDNA). It encoded by POLG gene, on chromosome 15q25. Various mutations in this gene have been described, with varied phenotypic manifestations. The triad sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) has reported only small group patients mutations. We report case male, who presen...
Guillain Barre Syndrome (GBS) is an acute inflammatory polyneuropathy, often characterized by symmetrical weakness and areflexia. It considered to be autoimmune disease triggered previous bacterial or viral infections. Miller Fisher’s syndrome one of the most common variants GBS, it trauma with areflexia, ataxia, ophthalmoparesis. Mortality 1-2% in childhood GBS generally develops due respirato...
BACKGROUND Anti-GQ1b antibody has been found in Miller Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) with ophthalmoplegia, Bickerstaff brainstem encephalitis (BBE), and acute ophthalmoplegia without ataxia (AO). The aim of this study was to determine the clinical features of AO associated with anti-GQ1b antibody. METHODS We retrospectively collected 34 patients with anti-GQ1b antibody ...
We describe a patient who had four relapses of Miller Fisher syndrome over a period of 20 years. The classical triad - ophthalmoparesis, ataxia and areflexia - was present during the first two attacks; ataxia was not observed during the third episode. The final recurrence was characterized by signs suggestive of a central involvement of the oculomotor pathways, subclinical slowing of the visual...
Miller Fisher syndrome (MFS) is a triad of total external ophthalmoplegia, ataxia, and areflexia, while botulism has the usual clinical presentation of involvement of cranial muscles and palsies with blurred vision, diplopia, ptosis, dilated pupils, and facial paralysis, caused by a bacterial neurotoxin which attacks proteins involved in presynaptic vesicle release. In this report, we needed to...
BACKGROUND Behr's syndrome is a classical phenotypic description of childhood-onset optic atrophy combined with various neurological symptoms, including ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties. OBJECTIVE Here we describe 4 patients with the classical Behr's syndrome phenotype from 3 unrelated families who carry homozygous nonse...
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