Hyperekplexia: overexcitable and underdiagnosed
نویسندگان
چکیده
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 کاملFamilial hypercholesterolaemia: underdiagnosed and undertreated.
Autosomal dominant familial hypercholesterolaemia (FH) is the most common inherited disorder known to cause premature coronary heart disease in people of European descent. The estimated prevalence of FH is 1 in 500, and heterozygous FH carries a high risk of premature coronary disease if left untreated (.50% risk in men by the age of 50 and .30% in women by 60 years). However, the condition is ...
متن کاملUnderdiagnosed and Potentially Lethal
CHEST I 103 I 6 I JUNE, 1993 1887 Pulmonary actinomycosis usually occurs as a result of the aspiration of oropharyngeal material in the setting of poor dental hygiene or oral trauma. When pathogenic, it is invasive, often mimicking a malignancy in presentation and macroscopic appearance. Endobronchial disease due to this pathogen rarely is reported. Ariel et al recently described five patients ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2014
ISSN: 0012-1622
DOI: 10.1111/dmcn.12638