It is possible that the main title of the report Hyperekplexia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- hereditary hyperekplexia
- startle syndrome
- familial startle disease
Hyperekplexia is a rare hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero). It may also affect children and adults. Individuals with this disorder have an excessive startle reaction (eye blinking or body spasms) to sudden unexpected noise, movement, or touch. Symptoms include extreme muscle tension (stiffness or hypertonia) that prevent voluntary movement and can cause the affected person to fall stiffly, like a log, without loss of consciousness. Exaggeration of reflexes (hyperreflexia), and an unstable way of walking (gait) may also occur. Hyperekplexia is usually inherited as an autosomal dominant trait, but autosomal recessive or rarely, X-linked inheritance, has also been reported.
Hyperekplexia is frequently misdiagnosed as a form of epilepsy so the process of getting an accurate diagnosis may be prolonged Treatment is relatively uncomplicated and involves the use of anti-anxiety and anti-spastic medicines Physical and cognitive therapy are supplemental treatment options.
WE MOVE (Worldwide Education and Awareness for Movement Disorders)
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NIH/National Institute of Neurological Disorders and Stroke
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Genetic and Rare Diseases (GARD) Information Center
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Movement Disorder Society
555 E. Wells Street
Milwaukee, WI 53202-3823