Congenital hyperekplexia is a congenital condition that occurs very rarely. The condition is also known as stiff baby syndrome in some cases. In the context of the disease, there is a specific genetic disorder. Congenital hyperekplexia is inherited either in an autosomal dominant manner or in a recessive manner. The disorder is associated with a number of different neurological complaints.
What is connatal hyperekplexia?
Congenital hyperekplexia occurs in a very small number of people. It is primarily a genetic disease that causes mainly neurological symptoms. For example, affected patients suffer from hypertensive muscles. These tensions occur either in the course of attacks or over a longer period of time. In addition, some affected individuals are also affected by occasional seizures. Primarily, children suffer from connatal hyperekplexia. It is of particular importance to diagnose the disease quickly so that adequate therapy can be started quickly. In this way, the prognosis of connatal hyperekplexia can be positively influenced. The disease was first described in 1958. The disorder is characterized in particular by an incorrect response to stimuli. These are mainly stimuli of an acoustic or tactile nature. A feared complication of congenital hyperekplexia is sudden infant death syndrome. For this reason, rapid diagnosis is enormously important for the life of the affected patient. In this context, it should also be noted that connatal hyperekplexia should be distinguished from epilepsy.
Causes
Basically, connatal hyperekplexia is a disorder whose cause lies primarily in the genes. In the majority of cases, the disease is inherited in an autosomal dominant manner. It is also characterized by a specific mutation. This mutation is located on the glycine receptor. The mutation affects both the alpha and beta subunits of the corresponding receptor. In addition, other potential possibilities exist for mutations that result in the development of connatal hyperekplexia. Congenital hyperekplexia differs from other hereditary disorders in one particular way. This is because the disorder is also inherited in an autosomal recessive manner in some cases. The genetic alterations occur primarily on sequences 5q32-35 as well as 4q31-3.
Symptoms, complaints, and signs
Congenital hyperekplexia is characterized by several characteristic complaints and symptoms that are indicative of the disease. The expression and severity of these signs vary from person to person. However, the typical combination of complaints provides a clear indication of the presence of connatal hyperekplexia. The first time the condition usually becomes noticeable is at birth. Immediately after birth, the skeletal muscles of the affected baby become tense. This tension shows up all over the body and is also called hypertonia. 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 spasms. Under certain circumstances, these lead to life-threatening complications. In particular, respiratory distress, which in some cases develops as a result of the cramped muscles, poses a high risk to the life of the affected patient. Under certain circumstances, the hypertonia of the musculature goes so far that the entire body is frozen. For this reason, the condition has been given the nickname stiff baby syndrome. As a rule, the symptoms become weaker the older the affected child gets. However, it is possible that even in supposedly cured adults, a typical cramping of the muscles suddenly occurs, for example, when the affected person is frightened. In this case, however, patients usually remain conscious.
Diagnosis and course of the disease
Various methods of investigation exist for the diagnosis of connatal hyperekplexia. Fundamentally important in the first step is the performance of a thorough history. Since patients are usually very young, the attending physician discusses, among other things, family dispositions with the baby’s parents.The most important clue to the presence of connatal hyperekplexia is usually provided by the typical clinical presentation of the disease. If the characteristic symptoms are present, a tentative diagnosis can easily be made. Suspicion of the presence of connatal hyperekplexia is confirmed in modern times by genetic analysis in the laboratory. Following the diagnosis, appropriate therapy is usually started immediately to improve the prognosis of the disease.
Complications
A number of different neurologic complaints and symptoms usually occur with this disease. However, the severity and expression of these symptoms can vary in many people. Those affected suffer from severe muscle tension. Various stimuli coming from outside can also lead to these tensions. The quality of life of the patient is considerably limited by this disease. Furthermore, it can also lead to shortness of breath, for example, which can be life-threatening for the affected person, so that treatment is urgently required. In most cases, the symptoms and complaints decrease with the age of the child. However, it cannot be ruled out that symptoms may still occur suddenly in adulthood. Treatment of this disease usually takes place with the help of medications. 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. As a rule, the patient’s life expectancy is not reduced. Furthermore, it is not uncommon for the child’s parents to require psychological treatment.
When should you see a doctor?
Congenital hyperekplexia is usually diagnosed immediately after birth. Whether further medical action needs to be taken depends on the severity of the condition. If symptoms are severe, for example, shortness of breath or muscle spasms, parents must present the child to a specialist. The physician will first clarify the signs of the disease and then initiate treatment. During treatment, the child must be closely monitored, typically in a specialist clinic for genetic diseases. The individual symptoms usually have to be treated throughout the life of the affected person. Later in life, the symptoms diminish, but health problems can still reappear spontaneously years later. Affected persons who suddenly notice unusual symptoms in adulthood should consult a physician. In addition to the family doctor, an internist or an orthopedist can be consulted. If the symptoms are severe, a specialist clinic should always be consulted. The doctor in charge will also usually consult a therapist or refer those affected and their relatives to a self-help group.
Treatment and therapy
Various approaches are available as part of the treatment of connatal hyperekplexia. Primarily, the active ingredient clonazepam is used. In contrast, conventional antiepileptic drugs usually lead to an exacerbation of symptoms. Timely diagnosis of the disorder is of central importance in order to start therapy as soon as possible.
Outlook and prognosis
The prognosis of connatal hyperekplexia is unfavorable. The disease is based on a mutation in human genetics. Physicians and medical practitioners are not allowed to make changes in the genetic material due to the current legal situation. For this reason, only symptomatic treatment methods can be applied. Accordingly, there is no cure for this disease. The earlier a diagnosis is made, the better the prospects of alleviating the existing symptoms. In addition, a well-designed treatment plan can prevent further irregularities. When making a prognosis, the individual expression of the symptoms must be taken into account. Although a genetic defect is present in all affected individuals, the severity and extent of the disorder is different in each patient. Since the quality of life is significantly reduced due to the disease, states of emotional distress may occur despite intensive efforts. These increase the risk of suffering secondary disorders and mental illness.This circumstance must be taken into account when making the overall prognosis, as it additionally worsens the general state of health. Improvements occur when the patient, in addition to seeking medical care, will independently take measures to support his or her own vitality. Targeted exercises to strengthen the musculature can contribute significantly to the alleviation of symptoms and improve the quality of life considerably.
Prevention
Congenital hyperekplexia cannot be prevented at this time because it is a genetic condition that is inherited. If newborn babies show typical symptoms of the disease, a diagnosis should be made as soon as possible. This is because adequate treatment methods usually significantly improve the chances of survival for affected patients.
Follow-up
Most patients do not have access to any special measures of aftercare for this disease. However, a physician should be contacted at a very early stage to prevent further complications or further worsening of symptoms. Since this is a genetic disease, it cannot be completely cured. However, if the patient wishes to have children, genetic counseling and testing may be useful to prevent the disease from recurring in the offspring. The treatment itself is usually carried out with the help of various medications. Here, the correct dosage and also the regular intake must always be observed, whereby above all the instructions of the doctor must be followed. In case of ambiguity or questions, the doctor should always be consulted first. In case of an epileptic seizure, a hospital should be visited immediately or an emergency doctor should be called directly. In the worst case, such a seizure can lead to the death of the affected person. Therefore, the main focus in this disease is early diagnosis to prevent this. Whether the disease will result in a reduced life expectancy for the affected person cannot be universally predicted.
Here’s what you can do yourself
Drug treatment of connatal hyperekplexia can greatly reduce symptoms. The seizures typical of the disease can still occur and lead to accidents and falls. Therefore, the patient must be under constant observation by 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 cell phone, medical passport, and various emergency medications. Measures such as physical therapy and physiotherapy stabilize the muscles and can thus reduce the frequency of seizures. Avoiding the triggering mechanical or acoustic stimuli can reliably prevent further convulsions. Adjustments in the home and in daily life may be necessary for this purpose. Those affected should contact their doctor, who will be able to give advice on possible modification measures and whether the costs will be covered by their health insurance. The psychological problems associated with a severe condition such as connatal hyperekplexia require therapeutic treatment. Accompanying this, patients can join self-help groups or exchange information with other sufferers on Internet forums. Sports activities and fulfilling hobbies help to increase quality of life and well-being.
