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The three main signs of hyperekplexia are generalized stiffness, excessive startle response beginning at birth, and nocturnal myoclonus. [5] Affected individuals are fully conscious during episodes of stiffness, which consist of forced closure of the eyes and an extension of the extremities followed by a period of generalised stiffness and uncontrolled falling at times. [6]
All symptoms normally resolve within three weeks, and may only last days. [1] Permanent deficits are seen in a minority of patients, ranging from under 10% to 20% in various studies. [1] Less than 5% of patients experience progressive vasoconstriction, which can lead to stroke, progressive cerebral edema, or even death. [1]
In the majority of cases, if there has not been any acute trauma or severe neurologic symptoms, a small subdural hygroma on the head CT scan will be an incidental finding. If there is an associated localized mass effect that may explain the clinical symptoms, or concern for a potential chronic SDH that could rebleed, then an MRI, with or ...
Posterior circulation infarct (POCI) is a type of cerebral infarction affecting the posterior circulation supplying one side of the brain.. Posterior circulation stroke syndrome (POCS) refers to the symptoms of a patient who clinically appears to have had a posterior circulation infarct, but who has not yet had any diagnostic imaging (e.g. CT Scan) to confirm the diagnosis.
Vertebrobasilar insufficiency (VBI) describes a temporary set of symptoms due to decreased blood flow in the posterior circulation of the brain.The posterior circulation supplies the medulla, pons, midbrain, cerebellum and (in 70-80% of people) supplies the posterior cerebellar artery to the thalamus and occipital cortex. [1]
Hyperviscosity syndrome is a group of symptoms triggered by an increase in the viscosity of the blood.Symptoms of high blood viscosity include spontaneous bleeding from mucous membranes, visual disturbances due to retinopathy, and neurologic symptoms ranging from headache and vertigo to seizures and coma.
Partial anterior circulation infarct (PACI) is a type of cerebral infarction affecting part of the anterior circulation supplying one side of the brain.. Partial anterior circulation stroke syndrome (PACS) refers to the symptoms of a patient who clinically appears to have had a partial anterior circulation infarct, but who has not yet had any diagnostic imaging (e.g. CT Scan) to confirm the ...
Treatment is supportive and focused on improving symptoms: Dystonia is a common debilitating symptom and can be managed with oral medications, and sometimes with deep-brain electrical stimulation, therapy support for walking, eating, and manual tasks is essential. Later, in many of the diseases, slowing and stopping of movement (known as ...