نتایج جستجو برای: ophthalmoparesis
تعداد نتایج: 130 فیلتر نتایج به سال:
BACKGROUND There is a poor correlation between multiple sclerosis disease activity, as measured by magnetic resonance imaging, and clinical disability. OBJECTIVE To establish oculographic criteria for the diagnosis and severity of internuclear ophthalmoparesis (INO), so that future studies can link the severity of ocular dysconjugacy with neuroradiological abnormalities within the dorsomedial...
Miller-Fisher syndrome (MFS) is a rare condition characterized by the classical triad of ophthalmoplegia, ataxia, and areflexia (Fisher, 1956). It is considered a variant of Guillain-Barré syndrome (GBS) with which it may overlap, or it can occur in more limited forms. We report a case of a thirty-five-year-old male who presented with a six-day history of diplopia, following a recent chest infe...
Mutations in plectin, a widely expressed giant cytolinker protein can lead to different diseases mostly with signs of muscular dystrophy (MD) and skin blistering. The only report of plectin-related disease without skin involvement is limb-girdle muscular dystrophy type 2Q (LGMD2Q) phenotype, showing early-onset limb-girdle muscular dystrophy symptoms with progressive manner and no cranial muscl...
THERE have been described about thirty cases of this interesting phenomenon. Axenfeld and Schuirenberg (1901) have their names attached to the condition in the Continental literature; they called it " Cyclic Congenital Oculomotor Disease". Fuchs, however, described a case much earlier (1893). The clinical picture is quite different from recurrent oculomotor palsy. The cause is still a matter of...
Case presentation: Female patient, 1 year and 7 months old, previously healthy, presented cervical adenomegaly, fever, periorbital edema after receiving MMR vaccine. She evolved with a deviation of the labial commissure to right, neck stiffness, bilateral edema. On hospital admission, she normal cranial tomography infectious cerebrospinal fluid negative culture. had generalized onset tonic-clon...
OBJECTIVE Parkinson's disease (PD) is a progressive neurological disorder characterised by a large number of motor and non-motor features that can impact on function to a variable degree. This review describes the clinical characteristics of PD with emphasis on those features that differentiate the disease from other parkinsonian disorders. METHODS A MedLine search was performed to identify s...
Guillain-Barré syndrome (GBS) and its variant, Miller Fisher syndrome (MFS) have several subtypes, together forming a continuous spectrum of discrete and overlapping syndromes. Such is the heterogeneity within this spectrum that many physicians may be surprised to learn that these disorders are related pathophysiologically, and therefore share certain clinical features. These include history of...
BACKGROUND Progressive external ophthalmoplegia (PEO) is an eye movement disorder characterised by paresis of the extra ocular muscles and muscle restricted multiple mitochondrial DNA (mtDNA) deletions. Classification of patients is particularly difficult due to overlapping phenotypes and a poor genotype-phenotype relationship. Despite the identification of several nuclear encoded genes causing...
Purpose: To add to the growing literature regarding possible link between onset of Guillain Barre syndrome (GBS) and Bickerstaff brainstem encephalitis (BBE) coronavirus disease (COVID-19) vaccines. Case reports: The first patient is a 38-year-old man that presented muscle weakness an unsteady gait for duration one week. Initially,...
Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of receptor and non-receptor phosphotyrosine kinases. Recently, a skeletal muscle receptor tyrosine kinase (MuSK)-interacting cytoplasmic protein termed Dok-7 has been identified. Subsequently, we and others identified mutations in DOK7 as a cause of congenital myasthenic syndromes (CMS), providing ...
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