Does your newborn or toddler suddenly startle at the slightest sound or touch? Does he or she stiffen up and feel like he or she is being hit by a rock? Does he or she feel a little short of breath? If you have ever noticed something like this, it could be a condition called hyperekplexia. Don't worry, we'll talk about it in detail.
What is this hyperekplexia?
Simply put, Hyperekplexia is a very rare neurological condition. This is when your baby's muscles become excessively stiff (medically called ``Hypertonia''). So, they have a hard time moving their muscles properly.
In addition, these children show an exaggerated startle reaction to sudden, unexpected stimuli (such as a sudden noise, touch, or movement). This startle can cause the body to jerk and the eyes to blink. After this shock, the baby's body becomes rigid for a while, and they are unable to move. The most dangerous thing is that some babies may stop breathing at this time. If this continues, it can be life-threatening. Sometimes this condition may be associated with Sudden Infant Death Syndrome (SIDS).
Doctors usually see this condition in newborns, either before or after birth. However, this condition, called hyperekplexia, can occur in children and adults as well.
There are several other names for this condition:
- Congenital stiff-person syndrome (`(Congenital stiff-person syndrome)`)
- Hereditary hyperekplexia (`(Hereditary hyperekplexia)`)
- Startle disease
- Startle syndrome (`(Startle syndrome)`)
- Stiff-baby syndrome
How common is this condition?
This is actually very rare. Just imagine, even in a country like America, this condition is seen at a rate of about one in 40,000 people. So this is something that is seen very rarely in Sri Lanka too.
What are the symptoms of Hyperekplexia?
There are two main forms of this condition: Major form and Minor form.
Major mode
This is when you suddenly, unexpectedly, startle in an unusual way at a touch, movement, or sound. When you startle, you may feel your head tilt back, your body jerk and make unusual movements, or your body stiffen and fall to the ground like a stone.
When a baby goes to sleep, they may have jerking movements. In addition, hypertonia is common among babies with this condition. They may also move slowly (called hypokinesia) and may have mild intellectual disability .
Other symptoms that may occur in infants, children, and adults with this major condition of hyperekplexia include:
- Hyperreflexia (excessive reflexes)
- Intermittent apnea (breathing pauses)
- Unstable gait (unsteady gait)
- Hip dislocation at birth
- Inguinal hernias.
Minor form
In this mild form, people with hyperekplexia usually only experience an infrequent, excessive startle response. Other symptoms may be minimal or absent. In infants, the twitching may increase when they have a fever . In children and adults, the twitching may increase in intensity due to stress or anxiety .
Symptoms of both types usually begin at birth, but for some people, they begin to appear later in life, either in childhood or adulthood.
Why does this hyperekplexia occur?
The main cause of this is genetic mutations. As far as has been discovered, at least five different genes can cause this hyperekplexia. These genes are:
- `ATAD1`
- `GLRA1`
- `GLRB`
- `GPHN`
- `SLC6A5`
These genes play a very important role in producing certain proteins in our nerve cells (neurons). These proteins control how the nerve cells respond to a molecule in our body called glycine. Glycine is an amino acid, which is a building block of proteins. Glycine is also a neurotransmitter. This is a chemical that sends signals through our nervous system.
Normally, glycine controls the stimulation of muscle fibers. However, if there is a genetic change (mutation) in one of the aforementioned genes, the effect of glycine on the nervous system is reduced. Then, the nerve cells send messages to the brain and muscles without control. This is why the muscles start to overreact, and other symptoms of hyperekplexia appear.
There are two ways you can inherit this condition, Hyperekplexia:
1. In an autosomal dominant manner.
2. In an autosomal recessive manner.
These are a bit more complicated genetic issues, so your doctor can explain this further.
What are the complications of this condition?
We have already mentioned that when newborns have hyperekplexia, their bodies become stiff and unable to move for a while. During this stiffening, some babies may stop breathing. This is a leading cause of sudden infant death syndrome (SIDS). SIDS is the leading cause of unexplained deaths in babies under one year of age.
Very rarely, babies with hyperekplexia may also develop seizures (`(Epilepsy)`), or what we call epileptic seizures.
Symptoms of hyperekplexia usually subside by the age of one year. However, children and adults with this condition may continue to have episodes of shaking easily and stiffness. This can cause them to fall frequently. As they get older, they may become less able to tolerate loud noises and crowded places. People with epilepsy may have seizures throughout their lives.
How do you diagnose this?
When diagnosing the condition Hyperekplexia, doctors focus on three main symptoms:
- The entire body is stiff immediately after birth .
- An exaggerated startle response to an unexpected stimulus.
- After being startled, the whole body becomes stiff for a short time.
The usual tests – blood tests, urine tests, brain scans and EEGs – all show normal results. However, genetic testing can identify the five genetic mutations linked to the condition.
Is there a treatment for Hyperekplexia?
Yes, it can be treated! In both children and adults, the main treatment for hyperekplexia is a drug called `(Clonazepam)`, which reduces anxiety and reduces muscle stiffness. `(Clonazepam)` is a mild sedative that belongs to the `(Benzodiazepine)` class. It helps reduce the symptoms of hyperekplexia, especially muscle stiffness. Doctors usually prescribe 0.01 to 0.1 milligrams per kilogram of body weight per day for children and 0.8 milligrams per day for adults.
Your doctor may prescribe several other medications to treat this condition. For example:
- Carbamazepine (`(Carbamazepine)`)
- Phenobarbitol (`(Phenobarbital)`)
- Phenytoin (`(Phenytoin)`)
- Diazepam (`(Diazepam)`)
- Sodium valproate (`(Sodium valproate)`)
Other treatments may include physical therapy for walking difficulties and cognitive-behavioral therapy (CBT) to reduce anxiety.
What will the future hold in this situation? (Prognosis)
In most cases, the symptoms of hyperekplexia in babies will subside by the time they are about a year old. That is really comforting news. However, in children and adults, the effects of this condition can last a lifetime. However, as mentioned earlier, there are medications that can help control the symptoms.
Can this be prevented?
Hyperekplexia is a genetic condition, so it cannot be prevented. If you are worried or have any doubts about whether your child will inherit this condition, it is a good idea to talk to a genetic counselor. Then you can get a clear understanding about this.
How do I take care of myself? / Take care of my child?
If you or your child has hyperekplexia, it is important to take the medication prescribed by your doctor exactly and on time. Your doctor will recommend the best treatment options for your condition. These medications should help control your symptoms.
When should I see a doctor?
If your newborn baby has hyperekplexia, the doctor will usually notice it at birth. Sometimes it can be detected even before birth. If this happens, your baby's doctor will start treatment right away.
However, if you or your child experience unexplained seizures , it is important to see a doctor immediately, as this condition, called hyperekplexia, can also be a cause of seizures.
What questions should I ask my doctor?
If you or your child has hyperekplexia, it's a good idea to ask your doctor these questions:
- Why did this situation occur? (What is the reason for this?)
- What treatment option do you recommend?
- Is it possible for my future children to develop this hyperekplexia?
Finally, things to remember
It's normal to feel sad and shocked when you find out that your newborn has Hyperekplexia. No one wants to see their child suffer. But if you or your child is suffering from this condition, remember that you are not alone. Your medical team is always there to help you. They will provide you with treatment to help manage the symptoms of this condition.
The most important thing is to remember that if your baby has Hyperekplexia, these symptoms will likely subside by their first birthday. Isn't that a great relief? So, face this situation with courage, following medical advice.
` Hyperekplexia, baby twitching, muscle spasms, neurological diseases, genetic diseases, newborns, SIDS, clonazepam
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