منابع مشابه
Sporadic Hyperekplexia Plus Syndrome
A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz-Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Ma...
متن کاملLate onset hyperekplexia.
We report on the case of an 86-year-old woman who rapidly became unable to stand and walk because of jerky movements, suggesting a clinical diagnosis of myoclonus. It was observed that both unexpected and expected stimuli (audiogenic, tactile, or visual) triggered the myoclonic jerks. Electrophysiological exploration, including a coupled EEG-EMG study, showed the occurrence of a patterned motor...
متن کاملHyperekplexia in neonates.
Hyperekplexia (startle disease) is a rare non-epileptic disorder characterised by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalised muscular rigidity, and nocturnal myoclonus. The genetic basis is a mutation usually of the arginine residue 271 leading to neuronal hyperexcitability by impairing glycinergic inhibition. Hyperekplexia i...
متن کاملStartle responses in hereditary hyperekplexia.
BACKGROUND Patients with hereditary hyperekplexia have excessive startle responses that are accompanied by transient stiffness and also continuous stiffness in infancy. A point of mutation has been identified for the major form of hereditary hyperekplexia in the gene encoding the alpha 1 subunit of the glycine receptor. OBJECTIVE To measure startle reflexes and autonomic responses in the majo...
متن کاملSinus node paucity in hyperekplexia.
We report a newborn with hyperekplexia and uncontrolled tonic spasms which did not respond to intravenous phenobarbitone and phenytoin, and midazolam infusion. Serum biochemistry, electrocardiography, electroencephalography, lumbar puncture and neuroimaging were normal. Continuous cardiac monitoring revealed that tonic spasm episodes were accompanied by sinus node paucity and severe bradycardia...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1992
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-6-10-8