Congenital hyperekplexia occurs in a very small number of people. It is primarily a genetic disease that causes mainly neurological symptoms. The affected patients suffer, for example, from strained muscles.

These tensions occur either in the context of seizures or over a longer period of time. In addition, some people with the disease are also affected by occasional seizures . Children primarily suffer from congenital hyperekplexia.

Rapid diagnosis of the disease is of particular importance so that adequate therapy can be started quickly. In this way, the prognosis of congenital hyperekplexie can be positively influenced. The disease was first described in 1958. The disorder is characterized in particular by the fact that stimuli are answered incorrectly.

These are primarily acoustic or tactile stimuli. Sudden infant death is a feared complication of congenital hyperekplexia . For this reason, rapid diagnosis is extremely important for the life of the affected patient. In this context, it should also be noted that congenital hyperekplexia must be distinguished from epilepsy .

causes

Basically, congenital hyperekplexy is a disease whose cause lies primarily in the genes. In the majority of cases, the disease is inherited in an autosomal dominant way. In addition, she is characterized by a special mutation .

This mutation is on the glycine receptor. The mutation affects both the alpha and beta subunits of the corresponding receptor. In addition, there are other potential possibilities for mutations that result in the development of congenital hyperekplexy.

Congenital hyperekplexia differs from other hereditary diseases in one special feature. In some cases, the disorder is inherited in an autosomal recessive manner. The genetic changes primarily occur on the sequences 5q32-35 and 4q31-3.

Symptoms, Ailments & Signs

Congenital hyperekplexia is characterized by several characteristic complaints and symptoms that are indicative of the disease. The severity and severity of these signs varies from person to person. However, the typical combination of symptoms gives a clear indication of the presence of congenital hyperekplexia.

The disease usually manifests itself first at birth. Immediately after birth, the affected baby’s skeletal muscles become tense. This tension can be seen all over the body and is also known as hypertension . At the same time there is a considerable intensification of the so-called Moro reflex.

Various stimuli, such as acoustic, tactile or mechanical, result in severe cramping. These can lead to life-threatening complications. In particular, the shortness of breath , which in some cases develops as a result of the cramped muscles, poses a high risk to the life of the patient concerned.

Muscle hypertonia can go so far that the entire body freezes. For this reason, the disease was given the nickname stiff baby syndrome. As a rule, the symptoms become weaker as the sick child gets older.

However, it is possible that a typical muscle spasm suddenly occurs even in supposedly healed adults, for example if the affected person is startled. However, patients usually remain conscious.

Diagnosis & disease progression

Various methods of examination exist to diagnose congenital hyperekplexia. The first step is to take a thorough anamnesis. Since the patients are usually very young, the treating physician discusses, among other things, family dispositions with the baby’s parents. The most important indication of the presence of congenital hyperekplexia is usually the typical clinical appearance of the disease. If the characteristic symptoms are present, a suspected diagnosis can easily be made.

The suspicion of congenital hyperekplexy is currently confirmed by a genetic analysis in the laboratory. Following the diagnosis, appropriate therapy is usually started immediately in order to improve the prognosis of the disease.

complications

Typically, this disease presents with a variety of different neurological signs and symptoms. However, the severity and severity of these symptoms can vary in many people. Those affected suffer from severe muscle tension. Various external stimuli can also lead to these tensions.

The patient’s quality of life is significantly reduced by this disease. Furthermore, shortness of breath can also occur, for example, which can be life-threatening for the person concerned, so that treatment is urgently required. In most cases, the symptoms and signs decrease as the child ages.

However, it cannot be ruled out that symptoms that appear suddenly will still occur in adulthood. The treatment of this disease usually takes place with the help of medication. These can limit the symptoms and do not lead to further complications.

However, it cannot be universally predicted whether the course of the disease will be completely positive. The life expectancy of the patient is usually not reduced. Furthermore, it is not uncommon for the child’s parents to also require psychological treatment.

When should you go to the doctor?

Congenital hyperekplexia is usually detected immediately after birth. Whether further medical measures need to be taken depends on the severity of the disease. If the symptoms are severe, such as shortness of breath or muscle cramps, the parents must take the child to a specialist. The doctor will first clarify the symptoms and then initiate treatment. During therapy, the child must be closely monitored, typically in a genetics clinic.

The individual symptoms usually have to be treated over the entire life of the person affected. In later life, the symptoms decrease, but health problems can still arise spontaneously years later. Those affected who suddenly notice unusual symptoms in adulthood should consult a doctor. In addition to the family doctor , an internist or an orthopaedist can be consulted. In the case of severe symptoms, a specialist clinic must always be consulted. The doctor in charge will usually also call in a therapist or refer those affected and their relatives to a self-help group.

Treatment & Therapy

Various approaches are available for the treatment of congenital hyperekplexia. The active ingredient clonazepam is primarily used. On the other hand, conventional antiepileptic drugs usually lead to a worsening of the symptoms. Timely diagnosis of the disease is of central importance in order to start therapy as soon as possible.

Outlook & Forecast

The prognosis of congenital hyperekplexia is unfavorable. The disease is based on a mutation in human genetics. Due to the current legal situation, doctors and medical professionals are not permitted to make changes to the genetic material. For this reason, only symptomatic treatment methods can be used. Accordingly, there is no cure for this disease. The earlier a diagnosis is made, the better the chances of alleviating the existing symptoms. In addition, with a well-established treatment plan, further irregularities can be avoided.

When making a prognosis, the individual severity of the symptoms must be taken into account. Although everyone affected has a genetic defect, the severity and extent of the disorder is different for each patient. Since the quality of life is significantly restricted due to the disease, emotional stress can occur despite intensive efforts. These increase the risk of suffering subsequent disorders and mental illnesses. This circumstance must be taken into account when making the overall prognosis, as it also worsens the general state of health.

Improvements occur when, in addition to seeking medical care, the patient takes self-reliant measures to support their own vitality. Targeted exercises to strengthen the muscles can make a significant contribution to alleviating the symptoms and significantly improve the quality of life.

prevention

Congenital hyperekplexy cannot currently be prevented because it is a genetic disease that is inherited. If newborn babies show typical symptoms of the disease, a diagnosis must be made as quickly as possible. Adequate treatment methods usually improve the chances of survival of the affected patients considerably.

aftercare

Most patients with this disease do not have any special follow-up measures available. However, a doctor should be contacted very early on so that there are no further complications or a further deterioration of the symptoms. Since this is a genetic disease, it cannot be completely cured.

If you wish to have children, however, genetic counseling and testing can be useful to ensure that the disease does not recur in the offspring. The treatment itself is usually carried out with the help of various medications. Here, a correct dosage and regular intake must always be observed, whereby above all the doctor’s instructions must be followed. If anything is unclear or if you have any questions, always consult your doctor first.

In the event of an epileptic seizure, you should immediately go to a hospital or call an ambulance. In the worst case, such an attack can lead to the death of the person concerned. In the foreground is therefore early diagnosis of this disease in order to prevent it. Whether the disease will lead to a reduced life expectancy of those affected cannot be universally predicted.

You can do that yourself

Drug treatment of congenital hyperekplexie can greatly reduce the symptoms. The seizures typical of the disease can still occur and lead to accidents and falls. Therefore, the patient must be under the constant surveillance of a family member, friend or caregiver who can call emergency services and provide first aid in the event of an emergency . Patients should always carry a mobile phone, a medical card and various emergency medication with them.

Measures such as physiotherapy and physiotherapy stabilize the muscles and can thereby reduce the frequency of seizures. By avoiding the triggering mechanical or acoustic stimuli, further cramps can be reliably prevented. Adjustments in the apartment and in everyday life may be necessary for this. Those affected should contact the responsible doctor, who can give tips on any conversion measures and whether the health insurance company will cover the costs.

The psychological problems associated with a serious condition such as congenital hyperekplexy require therapeutic treatment. At the same time, patients can join self-help groups or exchange ideas with other affected people in internet forums. Physical activity and fulfilling hobbies help to improve quality of life and well-being.