Childhood Diseases

Posted by: Vero | 2010/10/04


Hyperekplexia (Chromosome X)?

Hi - would you please explain what the above condition is (with Chromosome X involved) diagnosed in a 5 year old male as well as the likelihood of this condition happening again in another ''baby boy'' pregnancy i.e. is it hereditary? Thank-you.

Expert's Reply



Hyperekplexia is a Greek word which means 'exagerated surprise' This is a rather rare condition which is inherited.Children with this condition tend to startle easily which is noticed from birth. They also are very sensitive to touch and loud noises and sounds in general.A very significant feature of hypereplexia is stiffness of the body especially the lower part of the body and legs. Treatment is available in the form of a medicine called clonazepam.You should consult a apediatric geneticist for advice about having further children.

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