نتایج جستجو برای: ataxia oculomotor apraxia 1 aoa1
تعداد نتایج: 2770963 فیلتر نتایج به سال:
Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five g...
Posterior fossa syndrome, characterized by oromotor or oculomotor apraxia, emotional lability, and mutism, occurs in some children after infratentorial tumor resection, and is thought to involve injury to the dentatothalamocortical tract. Previous cases of posterior fossa syndrome involved pediatric patients with cerebellar and other posterior fossa tumors. To heighten awareness that posterior ...
We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention. The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cranial MRI no diagnosis was reached. The birth of her younger sister four years later with a similar...
Medial medullary infarction is usually manifested as hypoglossal palsy, limb weakness, impairment of proprioception, and oculomotor disturbance. We report a case with the unusual presentation of sensory ataxia. A 71 year-old male presented with ataxia and disequilibrium. Bilateral dysmetria, truncal ataxia, Upbeat nystagmus, and impaired vibration and position sense were the clinical features. ...
We describe two new clinical syndromes, mirror agnosia and mirror ataxia, both characterized by the deficit of reaching for an object through a mirror in association with a lesion of either parietal lobe. Clinical investigation of 13 patients demonstrated that the impairments affected both sides of the body. In mirror agnosia, the patients always reached toward the virtual object in the mirror ...
BACKGROUND Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia Syndrome (CANVAS) is a multi-system ataxia which results in cerebellar ataxia, a bilateral vestibulopathy and a somatosensory deficit. This sensory deficit has recently been shown to be a neuronopathy, with marked dorsal root ganglia neuronal loss. The characteristic oculomotor clinical sign is an abnormal visually ...
background: as both oral and verbal apraxia are related to vocal orofacial musculature, this study aimed at identifying brain regions impaired in cases with oral and verbal apraxia. methods: in this non-experimental study, 46 left brain damaged subjects (17 females) aged 23–84 years, were examined by oral and verbal apraxia tasks. impaired and spared broca’s area, insula, and mi...
The Miller Fisher syndrome a variant of the Guillain-Barre syndrome characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. Patient is presented here was a young female came with ataxia and ophthalmoplegia and unusual features of normal muscle stretch reflexes and had absent sural SNAP (...
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...
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