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What is Hyperekplexia?
Hyperekplexia is an highly rarefied neurologic upset that is inherited and is seen mostly in newborns but child and grownup may also have it . It is characterise by the mortal make excessive startle response or reflex lie of eye blink and body spasms . These reply are note even to slightest of sound , light , or touch . A baby with Hyperekplexia will have significant muscle tension which will prevent any voluntary motion of the body . In children and adults , Hyperekplexia may cause uttermost heftiness stiffness to an extent that the individual may just fall but will not suffer consciousness . Due to overstated inborn reflex , individual with Hyperekplexia will also have an unnatural gait pattern.[1,2,3 ]
Hyperekplexia is normally inherit in an autosomal rife style meaning that only one transcript of the defective cistron from either parent is good enough to cause this condition . However , there have been rare cases of Hyperekplexia being inherited in autosomal recessive fashion meaning that two written matter of the bad gene one from each parent is needed to get the condition.[1,2,3 ]
There is also datum of Hyperekplexia being make in rare cases due to X - link up heritage . Due to the symptoms and muscle stiffness that Hyperekplexia induce , most often it is misdiagnosed as a form of epilepsy and hence the correct diagnosing is often at times check . Treatment for Hyperekplexia is commonly aboveboard and involves use of anxiolytic and antispastic medication . to boot , physical and cognitive therapy is also quite effective in the discussion of Hyperekplexia.[1,2,3 ]
What Causes Hyperekplexia?
As submit , Hyperekplexia is an inherited experimental condition . In most case , it is inherited in an autosomal dominant fashion . This intend that only one copy of the defective gene is good enough to cause it but rarely autosomal recessive and X - join form of inheritance have been discover . The factor responsible for Hyperekplexia are the GLRA1 , SLC6A5 , GLRB , and GPHN genes.[3 ]
In absolute majority of the case it is the mutation of GLRA1 or the SLC6A5 gene that is creditworthy for Hyperekplexia . The cistron that stimulate Hyperekplexia are responsible for make glycine protein . This protein reduce the action of the nerve cells in the brain and spinal corduroy to international stimuli . In cases of Hyperekplexia , the mutation of the cistron interferes with the output of glycine protein . This results in the nerve cells being hyperactive and oppose very well even to the thin of stimulus.[3 ]
What are the Symptoms of Hyperekplexia?
There are fundamentally two variety of Hyperekplexia , namely major and minor . In the major form of this condition , the affected role has abnormally excessive startle response to sudden sound , move , or touch . The patient will have arching of the caput , myoclonic jerking , and in cases of baby and adults falling to the ground with the whole body abnormally stiff without loss of consciousness . All these symptom are watch when the patient role is startled . The frequency and grimness of the symptom incline to become regretful in periods of stress and tiredness . The myoclonic jerks can also be seen when the patient role is trying to return asleep.[3 ]
Hypertonia is something which is quite coarse in newborn with Hyperekplexia at the meter of birthing . baby with Hyperekplexia will not move at all and even if they do it will be a very slow move . Hyperreflexia , intermittent apneic episodes , and unstable gait are some of the other symptoms that tyke and adults with Hyperekplexia show . There have also been some reports of the comportment of inguinal herniation in people with Hyperekplexia.[3 ]
In the minor form of Hyperekplexia , there will be far less symptom realize when equate to the major form of this disease . In newborns , the startle answer may be bestow on by fever and in children and adults stress or anxiety may cause it . The onslaught of symptoms of Hyperekplexia can be detect right from the time of nascency but in some case symptoms may not be plain until the shaver reaches adolescence of adulthood.[3 ]
How is Hyperekplexia Treated?
Clonazepam is one medication that has been found to be highly effective in manage the symptom of Hyperekplexia in everyone with Hyperekplexia . Clonazepam is an anxiolytic and an antispastic drug . Some of the other medications that can be given to treat Hyperekplexia include carbamazepine , phenobarbital , phenytoin , and diazepam.[3 ]
For people who have a sept story of Hyperekplexia or who have a family member with this precondition , it is important to get genetic examination done to check for the prospect of their offspring getting Hyperekplexia.[3 ]
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